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Primary topic: lipid transport pathway

Lipid Transport Pathway: What It Means for Cholesterol and Metabolic Follow-Up

Lipid transport is not just about total cholesterol. It is about how fat and cholesterol are packaged, moved, and monitored across the system.

What this pathway does

This pathway manages how lipids circulate between tissues using lipoproteins and related transport systems. It directly affects particle burden, cholesterol handling, and energy transport.

Why it matters

When APOE and related genes are relevant, generic cholesterol interpretation often becomes too blunt. Better biomarkers help show whether transport pressure is actually present.

What creates pressure on this pathway

  • lipoprotein transport inefficiency
  • excess energy load increasing triglyceride pressure
  • dietary response that does not match generic advice

Validation markers to consider

  • ApoB
  • triglycerides
  • non-HDL cholesterol

Genes and SNPs connected to this pathway

Cholesterol and blood fats are useful in the right amount. Your body uses them to build cells and hormones. But if the wrong types stay high, they can build up in arteries over time.

Study rows support the SNP/gene claim. The pathway connection comes from the curated gene-to-pathway map.

What may run higher

Cholesterol or blood-fat numbers may run high. Blood tests decide whether this is actually happening.

What may work more slowly

Your body may clear fats from the blood less efficiently. Blood tests decide whether this matters.

What to check next

Check ApoB, LDL-C, HDL-C, triglycerides, non-HDL cholesterol, Lp(a), blood pressure, and glucose markers.

28mapped genes
36mapped SNPs
46SNP/gene claims
41report eligible
CETP4 SNPs - 8 claimsShow SNPsOpen gene page
rs18007751 claims - 2 study rows

enzyme activity - A

CETP activity tendency

Moderate

rs1800775 A / CETP -629A is associated with lower CETP promoter activity, CETP mass/activity, and higher HDL-C tendency.

CETP rs1800775 A is staged as a lower CETP activity allele with downstream HDL-remodeling biomarker effects.

Likely effectLower enzyme activity signal
Signal sizeSmall signal
Evidence supportStrong support
Report useIncluded in pathway scoring
Show study evidence
PMID 10669650functional assay - directThe checked promoter-function study reports that the CETP -629A allele is associated with lower CETP mass and higher HDL-C, and that A-containing promoter constructs showed lower luciferase activity in HepG2 cells.PMID 18560005biomarker association - directThe checked CETP genotype meta-analysis includes -629C>A / rs1800775 and reports a pattern similar to TaqIB: alleles associated with lower CETP mass/activity and higher HDL-C, with per-allele coronary-risk estimates kept out of this claim.
rs37642611 claims - 2 study rows

biomarker tendency - CC

CETP-linked HDL cholesterol tendency

Moderate

rs3764261 CC carries two CETP rs3764261 C alleles and is associated with lower HDL cholesterol tendency than A-containing genotypes.

CETP rs3764261 CC is staged as a lower-HDL-C tendency signal at a CETP HDL-remodeling locus.

Likely effectLower biomarker tendency
Signal sizeSmall signal
Evidence supportModerate support
Report useIncluded in pathway scoring
Show study evidence
POUNDS LOST and DIRECT CETP diet-intervention studybiomarker association - directThe checked randomized diet-intervention source describes rs3764261 as an established HDL-C SNP where the A allele raises HDL-C and the HDL-decreasing allele is associated with higher LDL-C and triglycerides. The sample CC genotype has two HDL-decreasing C alleles.PMID 29699816 SNAP rs3764261 HDL-C studybiomarker association - directThe checked PubMed abstract reports that each copy of the HDL-C risk C allele at CETP rs3764261 was associated with lower baseline HDL-C. This directly supports the lower-HDL-C direction for the sample CC genotype.
rs58823 claims - 12 study rows

transport activity - GG

CETP transport activity

Moderate

rs5882 GG is associated with reduced CETP transport activity.

CETP rs5882 G-containing genotypes are scored as a lower CETP transport-activity tendency, with GG scored stronger than AG.

Likely effectLower transport signal
Signal sizeModerate signal
Evidence supportModerate support
Report useIncluded in pathway scoring
Show study evidence
NCBI RefSNP recordidentity only - unknownNCBI RefSNP data identify rs5882 in CETP, the cholesteryl ester transfer protein gene. The common literature coding for this SNP uses A and G genotype letters.PubMed 17568242biomarker association - loose proxyThe Rotterdam Study reported that the CETP I405V polymorphism was associated with increased HDL-C in VV carriers. This supports a lipid-marker tendency for the valine-linked genotype, while not proving a fixed health outcome.PubMed 10619997functional assay - directA study of CETP polymorphisms in men reported lower plasma CETP activity for VV405 compared with II405. This supports scoring the G-linked valine allele as a lower CETP transport-activity tendency.PubMed 17196207other - loose proxyTeran-Garcia et al. studied rs5882, also called I405V, and reported genotype-related differences in HDL-C and HDL subfractions during an overfeeding study. This supports keeping certainty moderate because diet and energy balance can modify the observed lipid pattern.

transport activity - AG

CETP transport activity

Moderate

rs5882 AG is associated with reduced CETP transport activity.

CETP rs5882 G-containing genotypes are scored as a lower CETP transport-activity tendency, with GG scored stronger than AG.

Likely effectLower transport signal
Signal sizeSmall signal
Evidence supportModerate support
Report useIncluded in pathway scoring
Show study evidence
NCBI RefSNP recordidentity only - unknownNCBI RefSNP data identify rs5882 in CETP, the cholesteryl ester transfer protein gene. The common literature coding for this SNP uses A and G genotype letters.PubMed 17568242biomarker association - loose proxyThe Rotterdam Study reported that the CETP I405V polymorphism was associated with increased HDL-C in VV carriers. This supports a lipid-marker tendency for the valine-linked genotype, while not proving a fixed health outcome.PubMed 10619997functional assay - directA study of CETP polymorphisms in men reported lower plasma CETP activity for VV405 compared with II405. This supports scoring the G-linked valine allele as a lower CETP transport-activity tendency.PubMed 17196207other - loose proxyTeran-Garcia et al. studied rs5882, also called I405V, and reported genotype-related differences in HDL-C and HDL subfractions during an overfeeding study. This supports keeping certainty moderate because diet and energy balance can modify the observed lipid pattern.

transport activity - AA

CETP transport activity

Not used for pathway scoring

rs5882 AA has no scored directional claim for CETP transport activity.

CETP rs5882 G-containing genotypes are scored as a lower CETP transport-activity tendency, with GG scored stronger than AG.

Likely effectNo clear transport signal
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only - unknownNCBI RefSNP data identify rs5882 in CETP, the cholesteryl ester transfer protein gene. The common literature coding for this SNP uses A and G genotype letters.PubMed 17568242biomarker association - loose proxyThe Rotterdam Study reported that the CETP I405V polymorphism was associated with increased HDL-C in VV carriers. This supports a lipid-marker tendency for the valine-linked genotype, while not proving a fixed health outcome.PubMed 10619997functional assay - directA study of CETP polymorphisms in men reported lower plasma CETP activity for VV405 compared with II405. This supports scoring the G-linked valine allele as a lower CETP transport-activity tendency.PubMed 17196207other - loose proxyTeran-Garcia et al. studied rs5882, also called I405V, and reported genotype-related differences in HDL-C and HDL subfractions during an overfeeding study. This supports keeping certainty moderate because diet and energy balance can modify the observed lipid pattern.
rs7082723 claims - 9 study rows

transport activity - AA

CETP transport activity

Strong

rs708272 AA is associated with reduced CETP transport activity.

CETP rs708272 A-containing genotypes are scored as a lower CETP transport-activity tendency, with the strongest score for AA and an intermediate score for AG.

Likely effectLower transport signal
Signal sizeSmall signal
Evidence supportStrong support
Report useIncluded in pathway scoring
Show study evidence
NCBI RefSNP recordidentity only - unknownNCBI RefSNP data place rs708272 in CETP, the cholesteryl ester transfer protein gene. The common literature coding for this SNP uses A and G genotype letters.Evidence 2biomarker association - loose proxyRahimi et al. describe CETP TaqIB rs708272 as a G-to-A intron 1 change. In this naming system, the A-linked B2 allele lacks the restriction site and has been associated with higher HDL-C and lower CETP activity and levels.Evidence 3biomarker association - directA Tehran Lipid and Glucose Study subgroup found the highest HDL-C in B2B2 participants and lower HDL-C in B1 carriers. This supports scoring A-containing rs708272 genotypes as a lower CETP transport-activity tendency, not as a disease diagnosis.

transport activity - AG

CETP transport activity

Moderate

rs708272 AG is associated with reduced CETP transport activity.

CETP rs708272 A-containing genotypes are scored as a lower CETP transport-activity tendency, with the strongest score for AA and an intermediate score for AG.

Likely effectLower transport signal
Signal sizeSmall signal
Evidence supportStrong support
Report useIncluded in pathway scoring
Show study evidence
NCBI RefSNP recordidentity only - unknownNCBI RefSNP data place rs708272 in CETP, the cholesteryl ester transfer protein gene. The common literature coding for this SNP uses A and G genotype letters.Evidence 2biomarker association - loose proxyRahimi et al. describe CETP TaqIB rs708272 as a G-to-A intron 1 change. In this naming system, the A-linked B2 allele lacks the restriction site and has been associated with higher HDL-C and lower CETP activity and levels.Evidence 3biomarker association - directA Tehran Lipid and Glucose Study subgroup found the highest HDL-C in B2B2 participants and lower HDL-C in B1 carriers. This supports scoring A-containing rs708272 genotypes as a lower CETP transport-activity tendency, not as a disease diagnosis.

transport activity - GG

CETP transport activity

Not used for pathway scoring

rs708272 GG has no scored directional claim for CETP transport activity.

CETP rs708272 A-containing genotypes are scored as a lower CETP transport-activity tendency, with the strongest score for AA and an intermediate score for AG.

Likely effectNo clear transport signal
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only - unknownNCBI RefSNP data place rs708272 in CETP, the cholesteryl ester transfer protein gene. The common literature coding for this SNP uses A and G genotype letters.Evidence 2biomarker association - loose proxyRahimi et al. describe CETP TaqIB rs708272 as a G-to-A intron 1 change. In this naming system, the A-linked B2 allele lacks the restriction site and has been associated with higher HDL-C and lower CETP activity and levels.Evidence 3biomarker association - directA Tehran Lipid and Glucose Study subgroup found the highest HDL-C in B2B2 participants and lower HDL-C in B1 carriers. This supports scoring A-containing rs708272 genotypes as a lower CETP transport-activity tendency, not as a disease diagnosis.
APOE2 SNPs - 6 claimsShow SNPsOpen gene page
rs4293583 claims - 9 study rows

biomarker tendency - CC

APOE biomarker tendency

Strong

rs429358 CC is associated with increased APOE biomarker tendency.

APOE rs429358 is scored as a cautious APOE biomarker-component tendency for C-containing genotypes, strongest for CC.

Likely effectHigher biomarker tendency
Signal sizeSmall signal
Evidence supportStrong support
Report useIncluded in pathway scoring
Show study evidence
NCBI RefSNP recordidentity only - unknownNCBI RefSNP data place rs429358 in APOE and report T and C alleles for this variant. This supports the CC, CT, and TT genotype letters used in the simplified record.PMC5127235biomarker association - close proxyThe Diabetes Heart Study MIND paper describes APOE haplotype status as determined from rs429358 and rs7412, and identifies rs429358 as a coding variant that helps define the apoE protein isoforms E2, E3, and E4. This supports scoring rs429358 as an APOE biomarker component rather than as a stand-alone diagnosis.PMC4182517biomarker association - close proxyTejedor et al. reported that rs429358 and rs7412 together give rise to common APOE haplotypes and that these APOE polymorphisms are strongly associated with variation in plasma cholesterol and triglycerides. In that cohort, rs429358 alone was not associated with body-mass or waist measures after adjustment, supporting conservative interpretation.

biomarker tendency - CT

APOE biomarker tendency

Moderate

rs429358 CT is associated with increased APOE biomarker tendency.

APOE rs429358 is scored as a cautious APOE biomarker-component tendency for C-containing genotypes, strongest for CC.

Likely effectHigher biomarker tendency
Signal sizeSmall signal
Evidence supportModerate support
Report useIncluded in pathway scoring
Show study evidence
NCBI RefSNP recordidentity only - unknownNCBI RefSNP data place rs429358 in APOE and report T and C alleles for this variant. This supports the CC, CT, and TT genotype letters used in the simplified record.PMC5127235biomarker association - close proxyThe Diabetes Heart Study MIND paper describes APOE haplotype status as determined from rs429358 and rs7412, and identifies rs429358 as a coding variant that helps define the apoE protein isoforms E2, E3, and E4. This supports scoring rs429358 as an APOE biomarker component rather than as a stand-alone diagnosis.PMC4182517biomarker association - close proxyTejedor et al. reported that rs429358 and rs7412 together give rise to common APOE haplotypes and that these APOE polymorphisms are strongly associated with variation in plasma cholesterol and triglycerides. In that cohort, rs429358 alone was not associated with body-mass or waist measures after adjustment, supporting conservative interpretation.

biomarker tendency - TT

APOE biomarker tendency

Not used for pathway scoring

rs429358 TT has no scored directional claim for APOE biomarker tendency.

APOE rs429358 is scored as a cautious APOE biomarker-component tendency for C-containing genotypes, strongest for CC.

Likely effectNo clear biomarker tendency
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only - unknownNCBI RefSNP data place rs429358 in APOE and report T and C alleles for this variant. This supports the CC, CT, and TT genotype letters used in the simplified record.PMC5127235biomarker association - close proxyThe Diabetes Heart Study MIND paper describes APOE haplotype status as determined from rs429358 and rs7412, and identifies rs429358 as a coding variant that helps define the apoE protein isoforms E2, E3, and E4. This supports scoring rs429358 as an APOE biomarker component rather than as a stand-alone diagnosis.PMC4182517biomarker association - close proxyTejedor et al. reported that rs429358 and rs7412 together give rise to common APOE haplotypes and that these APOE polymorphisms are strongly associated with variation in plasma cholesterol and triglycerides. In that cohort, rs429358 alone was not associated with body-mass or waist measures after adjustment, supporting conservative interpretation.
rs74123 claims - 9 study rows

biomarker tendency - TT

APOE biomarker tendency

Moderate

rs7412 TT is associated with reduced APOE biomarker tendency.

APOE rs7412 is scored as a cautious lower-LDL/APOE2-component biomarker tendency for T-containing genotypes, strongest for TT.

Likely effectLower biomarker tendency
Signal sizeSmall signal
Evidence supportModerate support
Report useIncluded in pathway scoring
Show study evidence
NCBI RefSNP recordidentity only - unknownNCBI RefSNP data place rs7412 in APOE and report C and T alleles for this variant. This supports the CC, CT, and TT genotype letters used in the simplified record.PMC5127235biomarker association - loose proxyThe Diabetes Heart Study MIND paper describes APOE haplotype status as determined from rs429358 and rs7412, and identifies rs7412 as a coding variant that helps define the apoE protein isoforms E2, E3, and E4. The same paper reported lower LDL cholesterol in the APOE E2 haplotype group in European Americans with type 2 diabetes, with a similar trend in African Americans.PMC4182517biomarker association - close proxyTejedor et al. reported that rs429358 and rs7412 together give rise to common APOE haplotypes and that these APOE polymorphisms are strongly associated with plasma cholesterol and triglyceride variation. The study also reported rs7412 associations with body-mass and waist measures in middle-aged men, supporting trait-specific caveats rather than a broad health claim.

biomarker tendency - CT

APOE biomarker tendency

Moderate

rs7412 CT is associated with reduced APOE biomarker tendency.

APOE rs7412 is scored as a cautious lower-LDL/APOE2-component biomarker tendency for T-containing genotypes, strongest for TT.

Likely effectLower biomarker tendency
Signal sizeSmall signal
Evidence supportModerate support
Report useIncluded in pathway scoring
Show study evidence
NCBI RefSNP recordidentity only - unknownNCBI RefSNP data place rs7412 in APOE and report C and T alleles for this variant. This supports the CC, CT, and TT genotype letters used in the simplified record.PMC5127235biomarker association - loose proxyThe Diabetes Heart Study MIND paper describes APOE haplotype status as determined from rs429358 and rs7412, and identifies rs7412 as a coding variant that helps define the apoE protein isoforms E2, E3, and E4. The same paper reported lower LDL cholesterol in the APOE E2 haplotype group in European Americans with type 2 diabetes, with a similar trend in African Americans.PMC4182517biomarker association - close proxyTejedor et al. reported that rs429358 and rs7412 together give rise to common APOE haplotypes and that these APOE polymorphisms are strongly associated with plasma cholesterol and triglyceride variation. The study also reported rs7412 associations with body-mass and waist measures in middle-aged men, supporting trait-specific caveats rather than a broad health claim.

biomarker tendency - CC

APOE biomarker tendency

Not used for pathway scoring

rs7412 CC has no scored directional claim for APOE biomarker tendency.

APOE rs7412 is scored as a cautious lower-LDL/APOE2-component biomarker tendency for T-containing genotypes, strongest for TT.

Likely effectNo clear biomarker tendency
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only - unknownNCBI RefSNP data place rs7412 in APOE and report C and T alleles for this variant. This supports the CC, CT, and TT genotype letters used in the simplified record.PMC5127235biomarker association - loose proxyThe Diabetes Heart Study MIND paper describes APOE haplotype status as determined from rs429358 and rs7412, and identifies rs7412 as a coding variant that helps define the apoE protein isoforms E2, E3, and E4. The same paper reported lower LDL cholesterol in the APOE E2 haplotype group in European Americans with type 2 diabetes, with a similar trend in African Americans.PMC4182517biomarker association - close proxyTejedor et al. reported that rs429358 and rs7412 together give rise to common APOE haplotypes and that these APOE polymorphisms are strongly associated with plasma cholesterol and triglyceride variation. The study also reported rs7412 associations with body-mass and waist measures in middle-aged men, supporting trait-specific caveats rather than a broad health claim.
APOA52 SNPs - 2 claimsShow SNPsOpen gene page
rs20752911 claims - 2 study rows

biomarker tendency - T

triglyceride-rich lipoprotein tendency

Strong

rs2075291 T / APOA5 p.Gly185Cys is associated with higher fasting triglyceride and hypertriglyceridemia tendency, especially in Asian-ancestry cohorts.

APOA5 rs2075291 T is staged as a triglyceride-raising APOA5 coding allele.

Likely effectHigher biomarker tendency
Signal sizeSmall signal
Evidence supportStrong support
Report useIncluded in pathway scoring
Show study evidence
PMCID PMC2444008biomarker association - directThe checked Asian-American APOA5 study reports rs2075291 c.553G>T / p.Gly185Cys T allele enrichment in high-triglyceride subjects, higher hypertriglyceridemia odds, doubled triglycerides among heterozygotes in the high-TG group, and severe hypertriglyceridemia in TT homozygotes.PMCID PMC5718602biomarker association - directThe checked Korean cohort reports APOA5 c.553G>T / rs2075291 T allele frequency was higher in hypertriglyceridemic participants than controls and T allele presence was associated with higher hypertriglyceridemia odds after covariate adjustment.
rs9641841 claims - 2 study rows

biomarker tendency - G

triglyceride-rich lipoprotein biomarker tendency

Strong

rs964184 G at the APOA5/A1-C3-A4-A5 region is associated with higher triglyceride-rich lipoprotein biomarker tendency.

rs964184 G is staged as a lipid biomarker allele for higher fasting and related triglyceride-rich lipoprotein measures.

Likely effectHigher biomarker tendency
Signal sizeSmall signal
Evidence supportStrong support
Report useIncluded in pathway scoring
Show study evidence
PMCID PMC4076225biomarker association - directThe checked vascular-disease cohort source reports genotype-graded higher plasma triglycerides for rs964184 G carriers, with CC, CG, and GG mean triglycerides of 1.6, 1.9, and 2.2 mmol/L, respectively, and lower HDL-C in G carriers.PMCID PMC4263376biomarker association - close proxyThe checked metabolomics source reports rs964184 in the ZNF259/APOA5 region associated with higher monoacylglycerol 18:2, supporting the same triglyceride-rich lipid handling direction through a close lipid-metabolite proxy.
APOC32 SNPs - 2 claimsShow SNPsOpen gene page
rs1383264491 claims - 2 study rows

biomarker tendency - A

triglyceride-rich lipoprotein tendency

Strong

rs138326449 A carrier status is associated with lower triglyceride-rich lipoprotein tendency.

APOC3 rs138326449 A is staged as a rare loss-of-function lipid biomarker allele.

Likely effectLower biomarker tendency
Signal sizeModerate signal
Evidence supportStrong support
Report useIncluded in pathway scoring
Show study evidence
PMCID PMC4920206biomarker association - directThe checked metabolomics source identifies APOC3 rs138326449 as a rare splice/loss-of-function variant and reports broad triglyceride, VLDL, HDL, and fatty-acid metabolic associations.PMCID PMC4180269clinical curation - directThe checked sequencing source supports APOC3 loss-of-function variants, including splice alleles, as lowering triglycerides; staged only for lipid biomarker tendency.
rs51281 claims - 2 study rows

biomarker tendency - G carrier

triglyceride-rich lipoprotein tendency

Moderate

rs5128 G / APOC3 SstI carrier status is associated with higher plasma APOC3 and triglyceride-rich lipoprotein tendency.

APOC3 rs5128 G is staged as a common APOC3 lipid-biomarker allele associated with higher APOC3 and triglyceride tendency.

Likely effectHigher biomarker tendency
Signal sizeSmall signal
Evidence supportStrong support
Report useIncluded in pathway scoring
Show study evidence
PMCID PMC4457007biomarker association - directThe checked meta-analysis of 42 studies reports that carriers of the rs5128 G variant allele had higher plasma APOC3, triglycerides, total cholesterol, and LDL-C than non-carriers under the dominant model.PMID 32949947biomarker association - directThe checked common-variant APOC3 study reports that rs5128 is among common APOC3 variants associated with circulating apoC-III, and concludes that modest genetically caused apoC-III elevations associate with triglyceride-rich lipoproteins.
HMGCR2 SNPs - 2 claimsShow SNPsOpen gene page
rs129161 claims - 2 study rows

biomarker tendency - CT

HMGCR-linked LDL cholesterol tendency

Moderate

rs12916 CT carries one HMGCR rs12916 C allele, the non-LDL-lowering allele relative to T, and is associated with higher LDL cholesterol tendency than TT.

HMGCR rs12916 CT is staged as a heterozygous LDL-C tendency signal at the statin-target HMGCR locus.

Likely effectHigher biomarker tendency
Signal sizeSmall signal
Evidence supportStrong support
Report useIncluded in pathway scoring
Show study evidence
PLOS Genetics LDL-C target-variant tablegwas - directThe checked LDL-C target-variant table lists HMGCR rs12916 T as the LDL-C-lowering effect allele with beta -0.06061 mmol/L per T allele. For the exact CT genotype, the C allele is staged as the higher-LDL-C allele relative to the T allele.BMC Medicine genetically mimicked statins PheWASbiomarker association - directThe checked PheWAS source treats rs12916 T as a genetic mimic of HMGCR inhibition, reporting that T downregulates hepatic HMGCR expression and lowers serum LDL-C, total cholesterol, and apolipoprotein B. The sample CT genotype therefore has one non-lowering C allele for this LDL-C tendency claim.
rs38466621 claims - 2 study rows

expression - A

HMGCR full-length activity tendency

Moderate

rs3846662 A is associated with increased HMGCR exon 13 skipping and lower full-length HMGCR activity tendency.

HMGCR rs3846662 A is staged as lower canonical HMGCR activity tendency through exon 13 skipping.

Likely effectLower gene expression signal
Signal sizeSmall signal
Evidence supportStrong support
Report useIncluded in pathway scoring
Show study evidence
PMCID PMC3869353functional assay - directThe checked HMGCR splicing source reports that rs3846662 alters HNRNPA1/SRSF motif context, that the A allele promotes exon 13 skipping, and that increased exon-13-skipped transcript diminishes HMGCR enzyme activity.PMCID PMC2764366biomarker association - directThe prior checked HMGCR source supports rs3846662 as an LDL-C-associated HMGCR splicing variant affecting the balance of exon-13-skipped and full-length transcripts.
LDLR1 SNPs - 3 claimsShow SNPsOpen gene page
rs6883 claims - 9 study rows

transport activity - TT

LDLR transport activity

Moderate

rs688 TT is associated with reduced LDLR transport activity.

LDLR rs688 T-containing genotypes are scored as a tendency toward lower LDL receptor transport activity, strongest for TT.

Likely effectLower transport signal
Signal sizeModerate signal
Evidence supportModerate support
Report useIncluded in pathway scoring
Show study evidence
PMC3596853functional assay - directA functional LDLR study reported that rs688 T was associated with increased exon 12 alternative splicing, less LDLR protein at the cell surface, more LDLR in lysosomes, and reduced LDL uptake in cell experiments.PubMed 20807319biomarker association - close proxyLing et al. described rs688 as an LDLR exon 12 polymorphism associated with LDL cholesterol and LDLR splice isoforms. Their work supports interpreting this variant as a modest LDLR-function marker rather than as a stand-alone disease result.PubMed 29843469biomarker association - loose proxyThe South Indian case-control study links rs688 TT/T with coronary artery disease susceptibility. That disease association is too indirect to score LDLR transport activity direction, so it is kept neutral for this exact claim.

transport activity - CT

LDLR transport activity

Moderate

rs688 CT is associated with reduced LDLR transport activity.

LDLR rs688 T-containing genotypes are scored as a tendency toward lower LDL receptor transport activity, strongest for TT.

Likely effectLower transport signal
Signal sizeSmall signal
Evidence supportModerate support
Report useIncluded in pathway scoring
Show study evidence
PMC3596853functional assay - directA functional LDLR study reported that rs688 T was associated with increased exon 12 alternative splicing, less LDLR protein at the cell surface, more LDLR in lysosomes, and reduced LDL uptake in cell experiments.PubMed 20807319biomarker association - close proxyLing et al. described rs688 as an LDLR exon 12 polymorphism associated with LDL cholesterol and LDLR splice isoforms. Their work supports interpreting this variant as a modest LDLR-function marker rather than as a stand-alone disease result.PubMed 29843469biomarker association - loose proxyThe South Indian case-control study links rs688 TT/T with coronary artery disease susceptibility. That disease association is too indirect to score LDLR transport activity direction, so it is kept neutral for this exact claim.

transport activity - CC

LDLR transport activity

Not used for pathway scoring

rs688 CC has no scored directional claim for LDLR transport activity.

LDLR rs688 T-containing genotypes are scored as a tendency toward lower LDL receptor transport activity, strongest for TT.

Likely effectNo clear transport signal
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
PMC3596853functional assay - loose proxyA functional LDLR study reported that rs688 T was associated with increased exon 12 alternative splicing, less LDLR protein at the cell surface, more LDLR in lysosomes, and reduced LDL uptake in cell experiments.PubMed 20807319biomarker association - loose proxyLing et al. described rs688 as an LDLR exon 12 polymorphism associated with LDL cholesterol and LDLR splice isoforms. Their work supports interpreting this variant as a modest LDLR-function marker rather than as a stand-alone disease result.PubMed 29843469biomarker association - loose proxyThe South Indian case-control study links rs688 TT/T with coronary artery disease susceptibility. That disease association is too indirect to score LDLR transport activity direction, so it is kept neutral for this exact claim.
LPA2 SNPs - 2 claimsShow SNPsOpen gene page
rs104558721 claims - 2 study rows

biomarker tendency - G

lipoprotein(a) concentration tendency

Strong

rs10455872 G at the LPA locus is associated with higher circulating lipoprotein(a) concentration tendency.

LPA rs10455872 G is staged as a higher Lp(a) concentration allele.

Likely effectHigher biomarker tendency
Signal sizeSmall signal
Evidence supportStrong support
Report useIncluded in pathway scoring
Show study evidence
PMCID PMC6905440biomarker association - directThe checked Mexican adult population study reports an independent association between rs10455872-G and Lp(a) at or above 30 mg/dL after adjustment for cardiometabolic covariates.PMCID PMC6202211biomarker association - directThe checked statin-cohort source summarizes prior data in which the minor G allele of rs10455872 was associated with an approximately 25% increase in circulating Lp(a) levels.
rs37982201 claims - 2 study rows

biomarker tendency - C carrier

Lipoprotein(a) biomarker tendency

Strong

rs3798220 C / LPA I4399M carrier status is associated with higher plasma lipoprotein(a) and oxidized phospholipid-bearing Lp(a) tendency.

LPA rs3798220 C is staged as a lipid-pathway marker for higher Lp(a)-related particle burden.

Likely effectHigher biomarker tendency
Signal sizeSmall signal
Evidence supportStrong support
Report useIncluded in pathway scoring
Show study evidence
PMCID PMC2678922biomarker association - directThe Women's Health Study source reports rs3798220 minor-allele carrier status with substantially higher measured Lp(a) concentrations in the checked population sample.PMID 23828779biomarker association - directThe checked LPA oxidized-phospholipid source treats I4399M/rs3798220 as an LPA SNP associated with increased Lp(a) levels and Lp(a)-linked oxidized phospholipid biology.
ABCA11 SNPs - 1 claimsShow SNPsOpen gene page
rs18830251 claims - 3 study rows

biomarker tendency - CC

ABCA1 HDL cholesterol and cholesterol efflux tendency

Moderate

rs1883025 CC carries two ABCA1 rs1883025 C alleles and is associated with higher HDL cholesterol tendency.

ABCA1 rs1883025 CC is staged as an HDL-C-raising tendency signal at a cholesterol-efflux gene.

Likely effectHigher biomarker tendency
Signal sizeSmall signal
Evidence supportStrong support
Report useIncluded in pathway scoring
Show study evidence
PLOS ONE gene-centric lipid meta-analysisgwas - directThe checked gene-centric lipid meta-analysis reports ABCA1 rs1883025 C as an HDL-C-increasing allele in European rows. The sample CC genotype carries two C alleles.PMID 31694877 ABCA1 physical-activity interaction studybiomarker association - directThe checked JLR study reports that each major C allele at ABCA1 rs1883025 increased log-transformed HDL-C in men with medium or high physical activity, with attenuation in inactive men. This supports C as the HDL-C-raising allele while preserving an activity-context caveat.Chinese population lipid replication studybiomarker association - directThe checked Chinese lipid replication study reports rs1883025 C/T with the minor T allele associated with lower HDL-C in combined cohorts. This supports the opposite C allele as the higher-HDL-C allele for the sample CC genotype.
ABCG81 SNPs - 1 claimsShow SNPsOpen gene page
rs42993761 claims - 2 study rows

biomarker tendency - GT

ABCG8 sterol transport and LDL cholesterol tendency

Moderate

rs4299376 GT carries one ABCG8 rs4299376 G allele and is associated with higher LDL cholesterol and cholesterol-absorption tendency.

ABCG8 rs4299376 GT is staged as a heterozygous sterol-transport/LDL-C tendency signal.

Likely effectHigher biomarker tendency
Signal sizeSmall signal
Evidence supportStrong support
Report useIncluded in pathway scoring
Show study evidence
PLOS ONE gene-centric lipid meta-analysisgwas - directThe checked gene-centric lipid meta-analysis reports ABCG8 rs4299376 G as an LDL-C-increasing allele with genome-wide support in European rows and consistent direction across reported populations where estimable. The sample GT genotype carries one G allele.PMID 23707316 ABCG8 cholesterol absorption studybiomarker association - close proxyThe checked PubMed abstract reports that rs4299376 minor alleles in ABCG8 were significantly associated with higher cholesterol absorption ratio in LURIC, supporting the same sterol-transport direction close to the LDL-C claim.
ANGPTL41 SNPs - 1 claimsShow SNPsOpen gene page
rs1168430641 claims - 2 study rows

enzyme activity - A

ANGPTL4 LPL inhibition tendency

Strong

rs116843064 A / K40 carrier status is associated with lower ANGPTL4 inhibitory function and lower triglyceride tendency.

ANGPTL4 rs116843064 A is staged as a reduced ANGPTL4 LPL-inhibition and lower-triglyceride allele.

Likely effectLower enzyme activity signal
Signal sizeSmall signal
Evidence supportStrong support
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PMCID PMC4900689biomarker association - directThe checked ANGPTL4 source reports E40K carriers have lower triglycerides and describes E40K as blocking or reducing ANGPTL4 inhibition of lipoprotein lipase.PMID 18974381functional assay - directThe checked PubMed source supports ANGPTL4 E40K as a functional variant reducing ANGPTL4 inhibition of LPL and lowering triglyceride-related measures.
APOA11 SNPs - 1 claimsShow SNPsOpen gene page
rs1219127161 claims - 2 study rows

biomarker tendency - A allele

apoA-I / HDL formation tendency

Strong

rs121912716 A, corresponding to APOA1 NM_000039.3:c.391A>T / p.Lys131Ter on the transcript, is associated with lower apoA-I / HDL formation tendency.

APOA1 rs121912716 is staged as a rare pathogenic lipid-biomarker allele in the Lipids pathway, with the claim limited to apoA-I and HDL formation/function tendency.

Likely effectLower biomarker tendency
Signal sizeModerate signal
Evidence supportModerate support
Report useIncluded in pathway scoring
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ClinVar Variation 17911clinical curation - directClinVar identifies APOA1 NM_000039.3:c.391A>T / p.Lys131Ter with dbSNP rs121912716, pathogenic classification for apolipoprotein A-I Marburg, and submitter evidence noting heterozygotes with subnormal HDL cholesterol and hypertriglyceridemia.MedlinePlus APOA1review - directMedlinePlus supports APOA1 as the source of apoA-I, an HDL component required for cholesterol/phospholipid efflux and HDL formation, and describes APOA1 mutations as causing familial HDL deficiency with low HDL levels.
APOB1 SNPs - 1 claimsShow SNPsOpen gene page
rs57429041 claims - 3 study rows

biomarker tendency - A

APOB-LDL receptor binding and LDL clearance tendency

Strong

rs5742904 A / APOB R3500Q is associated with lower LDL receptor binding by apoB-containing LDL particles and higher LDL-C tendency.

APOB rs5742904 A is staged as a familial defective apoB allele that reduces LDLR binding/clearance tendency for LDL particles.

Likely effectLower biomarker tendency
Signal sizeModerate signal
Evidence supportStrong support
Report useIncluded in pathway scoring
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PMCID PMC441461functional assay - directThe checked functional paper used LDL-receptor binding assays and reports that LDL from heterozygous APOB Arg3500Gln carriers had substantially lower receptor affinity than control LDL, supporting reduced apoB-LDLR binding for the R3500Q allele.PMCID PMC508660functional assay - directThe checked APOB receptor-binding-site study directly frames familial defective apoB-100 R3500Q as disrupting LDL receptor binding and uses binding experiments to localize the functional receptor-binding defect.ClinVar Variation ID 17890identity only - directClinVar was checked only to confirm rs5742904 maps to APOB c.10580G>A / p.Arg3527Gln with the R3500Q alias.
ELOVL21 SNPs - 1 claimsShow SNPsOpen gene page
rs9534131 claims - 2 study rows

biomarker tendency - A

omega-3 long-chain PUFA response tendency

Moderate

rs953413 A in ELOVL2 is associated with altered EPA/DHA proportions and a stronger EPA or omega-3 index increase after fish-oil supplementation.

ELOVL2 rs953413 A is staged as a fish-oil response and long-chain omega-3 PUFA biomarker allele.

Likely effectHigher biomarker tendency
Signal sizeSmall signal
Evidence supportStrong support
Report useIncluded in pathway scoring
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PMCID PMC3896629biomarker association - directThe checked MARINA fish-oil intervention genotyped ELOVL2 rs953413 and reported genotype-by-treatment interaction for plasma EPA and DHA, with minor-allele carriers showing higher EPA and modestly higher DHA after the highest EPA/DHA dose.PMCID PMC11924656biomarker association - directThe checked 2025 fish-oil supplementation study reports ELOVL2 rs953413 GA+AA minor-allele carriers had a more favorable metabolic response, with increased EPA and dried-blood-spot Omega-3 Index after supplementation.
GBA11 SNPs - 1 claimsShow SNPsOpen gene page
rs4210161 claims - 2 study rows

enzyme activity - GG or compound-heterozygous GBA1 deficiency context

GBA1 glucocerebrosidase activity tendency

Strong

rs421016 G / GBA1 c.1448T>C / p.Leu483Pro, historically L444P, is associated with lower glucocerebrosidase activity tendency and glycosphingolipid biomarker disruption in Gaucher disease contexts.

GBA1 rs421016 G is staged as a pathogenic glucocerebrosidase allele affecting lysosomal glucosylceramide degradation and Gaucher biomarker context.

Likely effectLower enzyme activity signal
Signal sizeModerate signal
Evidence supportStrong support
Report useIncluded in pathway scoring
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ClinVar Variation 4288functional assay - directClinVar maps rs421016 to GBA1 c.1448T>C / p.Leu483Pro and classifies it as pathogenic/risk factor, with multiple Gaucher disease submissions and cited functional studies reporting decreased GBA enzyme activity in transfected cells.MedlinePlus GBA1clinical curation - directMedlinePlus supports GBA1 glucocerebrosidase deficiency as the biochemical basis for Gaucher disease and lysosomal glucosylceramide storage.
HSD17B131 SNPs - 1 claimsShow SNPsOpen gene page
rs726135671 claims - 2 study rows

enzyme activity - TA insertion

HSD17B13 lipid-droplet retinol dehydrogenase activity

Strong

rs72613567 TA insertion in HSD17B13 is associated with lower lipid-droplet retinol dehydrogenase activity.

HSD17B13 rs72613567:TA is staged as a loss-of-function lipid-droplet enzyme allele relevant to hepatic lipid/retinoid handling.

Likely effectLower enzyme activity signal
Signal sizeSmall signal
Evidence supportStrong support
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PMCID PMC6668033functional assay - directThe checked protein-truncating HSD17B13 source reports rs72613567:TA alters splicing, produces a truncated unstable protein, and reduces enzymatic activity.PMCID PMC6438737functional assay - close proxyThe checked HSD17B13 functional source characterizes HSD17B13 as a lipid-droplet retinol dehydrogenase and reports rs72613567 as generating novel splice variants with similar liver histology association patterns.
LCAT1 SNPs - 1 claimsShow SNPsOpen gene page
rs1219080501 claims - 2 study rows

enzyme activity - AA or compound-heterozygous LCAT deficiency context

LCAT HDL cholesterol esterification activity tendency

Strong

rs121908050 A (forward-genomic; LCAT c.440C>T / p.Thr147Ile transcript context) is associated with lower alpha-LCAT HDL cholesterol esterification activity tendency and low HDL cholesterol in fish-eye disease contexts.

LCAT rs121908050 A is staged as the forward-genomic pathogenic fish-eye disease allele affecting HDL cholesterol esterification.

Likely effectLower enzyme activity signal
Signal sizeModerate signal
Evidence supportStrong support
Report useIncluded in pathway scoring
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ClinVar Variation 3660clinical curation - directClinVar maps rs121908050 to LCAT c.440C>T / p.Thr147Ile and supports pathogenic fish-eye disease / LCAT deficiency context for the exact variant.Endotext monogenic disorders altering HDL levelsclinical curation - directEndotext supports LCAT deficiency as a monogenic HDL disorder, with fish-eye disease involving impaired HDL cholesterol esterification and markedly low HDL cholesterol.
LIPC1 SNPs - 1 claimsShow SNPsOpen gene page
rs18005881 claims - 2 study rows

enzyme activity - T

hepatic lipase activity tendency

Moderate

rs1800588 T / LIPC -514T is associated with lower hepatic lipase activity tendency.

LIPC rs1800588 T is staged as a lower hepatic lipase activity allele.

Likely effectLower enzyme activity signal
Signal sizeSmall signal
Evidence supportStrong support
Report useIncluded in pathway scoring
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PMID 15292318biomarker association - directThe checked meta-analysis reports lower hepatic lipase activity for CT and TT genotypes than CC, with a stepwise allele-dosage pattern and higher HDL-C.PMCID PMC2803245functional assay - directThe checked population/promoter source summarizes that the -514T allele has lower transcriptional activity than the C allele and is linked to hepatic lipase and HDL-C measures.
LIPG1 SNPs - 1 claimsShow SNPsOpen gene page
rs779603471 claims - 2 study rows

enzyme activity - G

endothelial lipase activity tendency

Strong

rs77960347 G / LIPG N396S is associated with lower endothelial lipase activity and higher HDL-C tendency.

LIPG rs77960347 G is staged as a reduced-function endothelial lipase allele with HDL-C and triglyceride-rich lipoprotein handling context.

Likely effectLower enzyme activity signal
Signal sizeModerate signal
Evidence supportStrong support
Report useIncluded in pathway scoring
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PMCID PMC2662558functional assay - directThe checked source identifies LIPG Asn396Ser and shows significantly reduced endothelial lipase activity in vitro and reduced in vivo activity against HDL, with higher HDL-C in carriers.PMCID PMC8483387biomarker association - close proxyThe checked source uses LIPG p.Asn396Ser / rs77960347 as a human loss-of-function proxy and links the variant to lipid-metabolism differences, supporting the same reduced-endothelial-lipase direction in a large human genetic context.
LPIN11 SNPs - 1 claimsShow SNPsOpen gene page
rs5336519911 claims - 2 study rows

enzyme activity - GG or compound-heterozygous LPIN1 deficiency context

Lipin-1 phosphatidate phosphatase activity tendency

Strong

rs533651991 G / LPIN1 c.1807-2A>G is associated with lower lipin-1 phosphatidate phosphatase activity and altered phosphatidic-acid, diacylglycerol, triglyceride, and phospholipid handling in recessive or compound-heterozygous LPIN1 deficiency contexts.

LPIN1 rs533651991 G is staged as a splice-disrupting pathogenic LPIN1 deficiency allele affecting lipid synthesis flux.

Likely effectLower enzyme activity signal
Signal sizeModerate signal
Evidence supportStrong support
Report useIncluded in pathway scoring
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ClinVar Variation 1465375clinical curation - directClinVar maps rs533651991 to LPIN1 c.1807-2A>G, a canonical splice-acceptor variant classified pathogenic/likely pathogenic with multiple submitters and no conflicts.PMID 18817903clinical curation - close proxyThe checked LPIN1 source reports that deleterious LPIN1 mutations cause recurrent myoglobinuria and describes LPIN1 as encoding phosphatidic acid phosphatase, a key enzyme in triglyceride and membrane phospholipid biosynthesis.
LPL1 SNPs - 1 claimsShow SNPsOpen gene page
rs137021 claims - 2 study rows

enzyme activity - C

LPL triglyceride clearance tendency

Strong

rs13702 C in the LPL 3-prime UTR is associated with higher LPL activity/expression tendency and lower triglyceride tendency.

LPL rs13702 C is staged as a gain-of-function triglyceride-clearance allele.

Likely effectHigher enzyme activity signal
Signal sizeSmall signal
Evidence supportStrong support
Report useIncluded in pathway scoring
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AJHG rs13702 miR-410 functional studyfunctional assay - directThe checked article identifies rs13702 as a gain-of-function LPL variant that modulates lipid traits through disruption of a miR-410 seed site.PMID 24990426biomarker association - directThe checked PREDIMED report states that rs13702T>C was strongly associated with lower triglycerides in C-allele carriers and that the association was modified by dietary unsaturated fat intervention.
MLXIPL1 SNPs - 1 claimsShow SNPsOpen gene page
rs38123161 claims - 2 study rows

biomarker tendency - G carriers / MLXIPL Gln241His context

ChREBP-linked triglyceride and lipoprotein biomarker tendency

Moderate

rs3812316 G / MLXIPL Gln241His is associated with lower triglyceride-rich lipoprotein and apolipoprotein B biomarker tendency, with liver-enzyme and steatotic-liver-disease context that should be interpreted separately.

MLXIPL rs3812316 G is staged as a common ChREBP-region lipid biomarker allele with lower triglyceride and VLDL tendency.

Likely effectLower biomarker tendency
Signal sizeSmall signal
Evidence supportStrong support
Report useIncluded in pathway scoring
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PMID 38668731biomarker association - directA genome-first MLXIPL study reports Gln241His carriers with significantly lower triglycerides, apolipoprotein B, VLDL-related metabolomic measures, gamma-glutamyl transferase, and alkaline phosphatase, with higher HDL cholesterol and separate steatotic liver disease context.Nutrients rs3812316 triglyceride studybiomarker association - directThe checked nutrition-genetics study reports rs3812316 association with triglyceride levels in Mexican Mestizo women and discusses MLXIPL/ChREBP relevance to triglyceride metabolism.
MTARC11 SNPs - 1 claimsShow SNPsOpen gene page
rs26424381 claims - 2 study rows

biomarker tendency - A

MTARC1 hepatic lipid and liver-enzyme tendency

Strong

rs2642438 A / MTARC1 p.Ala165Thr is associated with lower hepatic lipid and liver-injury biomarker tendency.

MTARC1 rs2642438 A is staged as a hepatic lipid/liver-enzyme protective-tendency allele with reduced-function support.

Likely effectLower biomarker tendency
Signal sizeSmall signal
Evidence supportStrong support
Report useIncluded in pathway scoring
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PLOS Genetics MTARC1 p.A165Tbiomarker association - directThe checked PLOS Genetics source identifies MTARC1 p.A165T/rs2642438 as associated with protection from liver disease and reports liver-relevant biomarker support.PMCID PMC10940201functional assay - close proxyThe checked functional source reports that the fatty-liver protective MTARC1 p.A165T variant reduces MTARC1 protein stability.
PCSK91 SNPs - 1 claimsShow SNPsOpen gene page
rs5625561 claims - 2 study rows

biomarker tendency - AG

PCSK9-linked LDL cholesterol tendency

Moderate

rs562556 AG carries one PCSK9 rs562556 G allele and is associated with lower LDL cholesterol tendency.

PCSK9 rs562556 AG is staged as a heterozygous LDL-C-lowering tendency signal.

Likely effectLower biomarker tendency
Signal sizeSmall signal
Evidence supportStrong support
Report useIncluded in pathway scoring
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PLOS Genetics LDL-C target-variant tablegwas - directThe checked LDL-C target-variant table lists PCSK9 rs562556 G as an LDL-C-lowering allele with genome-wide support. The sample AG genotype carries one G allele.Scientific Reports PCSK9 rs562556 lipid studybiomarker association - directThe checked Scientific Reports source reports lower mean LDL-C in the rs562556 G allele group than the A allele group and lower odds of high LDL-C for G carriers. This supports the same lower-LDL-C direction for the sample AG genotype.
PNPLA31 SNPs - 1 claimsShow SNPsOpen gene page
rs7384091 claims - 2 study rows

enzyme activity - G

hepatic lipid-droplet lipase tendency

Strong

rs738409 G / PNPLA3 148M is associated with lower hepatic lipid-droplet lipase activity tendency.

PNPLA3 rs738409 G is staged as a reduced-function hepatic lipid-droplet lipase allele.

Likely effectLower enzyme activity signal
Signal sizeModerate signal
Evidence supportStrong support
Report useIncluded in pathway scoring
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PMCID PMC4516767functional assay - directThe checked source states that PNPLA3 I148M / rs738409 reduces retinyl-palmitate lipase activity and affects circulating retinol context in NAFLD/obesity cohorts.PMCID PMC9512469functional assay - directThe checked source summarizes PNPLA3 as a triglyceride and retinyl-ester hydrolase and reports that the 148M variant exhibits reduced enzymatic activity.
SLCO1B11 SNPs - 1 claimsShow SNPsOpen gene page
rs41490561 claims - 1 study rows

transport activity - C

OATP1B1 transport activity

Strong

rs4149056 C is associated with decreased SLCO1B1/OATP1B1 transport activity.

SLCO1B1 rs4149056 C is staged as a reduced hepatic uptake transporter allele with pharmacogenomic and endogenous-substrate context.

Likely effectLower transport signal
Signal sizeModerate signal
Evidence supportModerate support
Report useIncluded in pathway scoring
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PMCID PMC3384438clinical curation - directThe checked CPIC guideline identifies rs4149056 as SLCO1B1 c.521T>C / p.V174A and states that the minor C allele has decreased transport function in vitro and decreased clearance for multiple drugs in vivo. This directly supports a reduced OATP1B1 transport-activity claim for the C allele.
SORT11 SNPs - 1 claimsShow SNPsOpen gene page
rs127403741 claims - 2 study rows

expression - T

hepatic SORT1 expression tendency

Strong

rs12740374 T is associated with higher hepatic SORT1 expression tendency through creation of a C/EBP binding site.

SORT1 rs12740374 T is staged as a functional hepatic SORT1 expression allele with downstream LDL/VLDL support.

Likely effectHigher gene expression signal
Signal sizeSmall signal
Evidence supportStrong support
Report useIncluded in pathway scoring
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PMCID PMC3062476functional assay - directThe checked functional source reports that rs12740374 T creates a C/EBP binding site, increases liver SORT1 expression in assays and human liver context, and links this mechanism to LDL/VLDL handling.PMID 20686566functional assay - directThe PubMed record for the checked SORT1 functional study supports the same rs12740374 mechanism connecting noncoding variation to hepatic SORT1 expression and lipid traits.
TM6SF21 SNPs - 1 claimsShow SNPsOpen gene page
rs585429261 claims - 2 study rows

biomarker tendency - T

hepatic VLDL secretion tendency

Strong

rs58542926 T / TM6SF2 E167K is associated with lower hepatic VLDL secretion tendency.

TM6SF2 rs58542926 T is staged as a reduced-function hepatic lipoprotein secretion allele.

Likely effectLower biomarker tendency
Signal sizeModerate signal
Evidence supportStrong support
Report useIncluded in pathway scoring
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PMCID PMC5886214functional assay - directThe checked functional source reports rs58542926 / E167K affects TM6SF2 protein turnover and links TM6SF2 level to VLDL metabolism.PMCID PMC6690969functional assay - directThe checked hepatic spheroid source supports TM6SF2 E167K as reducing apolipoprotein B secretion and altering hepatic lipid metabolism.
TRIB11 SNPs - 1 claimsShow SNPsOpen gene page
rs29540291 claims - 3 study rows

biomarker tendency - AT

TRIB1 triglyceride-rich lipoprotein tendency

Moderate

rs2954029 AT carries one TRIB1 rs2954029 A allele and is associated with higher triglyceride-rich and apoB-containing lipid biomarker tendency.

TRIB1 rs2954029 AT is staged as a heterozygous higher triglyceride/LDL/apoB lipid-biomarker tendency signal.

Likely effectHigher biomarker tendency
Signal sizeSmall signal
Evidence supportStrong support
Report useIncluded in pathway scoring
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PLOS ONE gene-centric lipid meta-analysisgwas - directThe checked gene-centric lipid meta-analysis reports rs2954029 A as a lipid-increasing allele at the TRIB1 locus in European summary rows, including total cholesterol and LDL-C. The sample AT genotype carries one A allele.Chinese population lipid replication studybiomarker association - directThe checked Chinese lipid replication study reports rs2954029 T/A with the minor A allele associated with higher total cholesterol, triglycerides, LDL cholesterol, and total cholesterol to HDL ratio in combined cohorts.PMID 36714195 TRIB1 lipid meta-analysisbiomarker association - directThe checked PubMed abstract for the TRIB1 systematic review and meta-analysis reports that rs2954029 A-allele carriers have higher LDL-C and total cholesterol than noncarriers, consistent with the sample AT claim direction.

Where DNA analysis helps

DNA helps show whether lipid transport should be one of the first systems you validate instead of treating cholesterol discussion as a generic background issue.

Example interpretation

Your lipid-transport pathway may be worth monitoring more carefully because transport genes and metabolic context both point to follow-up.

Suggested validation: ApoB and triglycerides.

What to do next

  • prioritize ApoB over total cholesterol when possible
  • pair lipid markers with triglycerides and weight context
  • use DNA only as prioritization, not as a standalone conclusion

Related pages

APOE

APOE gene metabolism

PPARA

PPARA fat metabolism gene

Slow metabolism

slow metabolism genetics

ApoB

ApoB and lipid risk

Genetic test for weight loss Europe

genetic test for weight loss Europe

Get the full report

Use your DNA file to see which pathways may be worth validating first.