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Primary topic: LDLR cholesterol clearance gene

LDLR Gene and Metabolism: What It Means for Your Body

LDLR matters when LDL clearance rather than only production seems relevant to the lipid picture.

What is the LDLR gene?

LDLR helps remove LDL particles from circulation. That makes it central to clearance rather than only to total cholesterol labels.

How LDLR affects metabolism

If LDLR-related clearance is less efficient, ApoB and LDL-related markers can become more important to validate directly.

What happens when LDLR is altered

Altered LDLR function does not tell the whole lipid story, but it increases the value of looking at particle burden and clearance context together.

Curated SNP evidence for LDLR

These SNPs come from the approved study-level evidence model. Each claim is scored from curated study rows, then gated before it can influence pathway scoring.

Lipids

Evidence-backed report connection

LDLR currently has 3 curated SNPs, 7 claim-level scores, and 2 claims eligible for pathway scoring.

Open the sample report
rs2228671LDLR synonymous LDL-C allele1 claims · 1 study rows

biomarker tendency · T

LDL cholesterol tendency

Not used for pathway scoring

rs2228671 T is associated with lower LDL cholesterol tendency.

LDLR rs2228671 is staged as a direct LDL-C biomarker tendency, not as a cardiovascular disease-risk estimate.

Likely effectLower biomarker tendency
Signal sizeSmall signal
Evidence supportModerate support
Report useEvidence only, not scored
Show study evidence
PMCID PMC2500189biomarker association · directThe checked cohort paper reports that each copy of the LDLR rs2228671 minor T allele was associated with lower LDL cholesterol, with a quantified per-copy LDL-C decrease and consistent direction across children, men, and women.
rs5925LDLR supporting signal3 claims · 9 study rows

unknown · CC

LDLR unscored target

Not used for pathway scoring

rs5925 CC has no scored directional claim for LDLR unscored target.

LDLR rs5925 is kept unscored as a standalone end-user effect because available evidence is not strong enough for a clear direction without haplotype or population context.

Likely effectNo clear DNA signal
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP data identify rs5925 in LDLR with C and T alleles. The record supports the genotype letters used here, but does not by itself establish a user-facing functional direction.PubMed 25188588other · loose proxyLee et al. reported that rs688 and rs5925 haplotypes can jointly influence LDLR splicing efficiency. Because the evidence is haplotype-based and context dependent, rs5925 is kept neutral as a standalone SNP.PMC6681362other · loose proxyA South Indian coronary artery disease study reported an association for rs5925 in one cohort but stated that validation in larger and different populations is needed. This supports a cautious no-direction score for end-user interpretation.

unknown · CT

LDLR unscored target

Not used for pathway scoring

rs5925 CT has no scored directional claim for LDLR unscored target.

LDLR rs5925 is kept unscored as a standalone end-user effect because available evidence is not strong enough for a clear direction without haplotype or population context.

Likely effectNo clear DNA signal
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP data identify rs5925 in LDLR with C and T alleles. The record supports the genotype letters used here, but does not by itself establish a user-facing functional direction.PubMed 25188588other · loose proxyLee et al. reported that rs688 and rs5925 haplotypes can jointly influence LDLR splicing efficiency. Because the evidence is haplotype-based and context dependent, rs5925 is kept neutral as a standalone SNP.PMC6681362other · loose proxyA South Indian coronary artery disease study reported an association for rs5925 in one cohort but stated that validation in larger and different populations is needed. This supports a cautious no-direction score for end-user interpretation.

unknown · TT

LDLR unscored target

Not used for pathway scoring

rs5925 TT has no scored directional claim for LDLR unscored target.

LDLR rs5925 is kept unscored as a standalone end-user effect because available evidence is not strong enough for a clear direction without haplotype or population context.

Likely effectNo clear DNA signal
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP data identify rs5925 in LDLR with C and T alleles. The record supports the genotype letters used here, but does not by itself establish a user-facing functional direction.PubMed 25188588other · loose proxyLee et al. reported that rs688 and rs5925 haplotypes can jointly influence LDLR splicing efficiency. Because the evidence is haplotype-based and context dependent, rs5925 is kept neutral as a standalone SNP.PMC6681362other · loose proxyA South Indian coronary artery disease study reported an association for rs5925 in one cohort but stated that validation in larger and different populations is needed. This supports a cautious no-direction score for end-user interpretation.
rs688LDLR splicing signal3 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.

Common symptoms people report

  • concern about LDL-related markers
  • family context around cholesterol clearance
  • lipid patterns that do not fit simple diet narratives

Biomarkers to validate

ApoB

Useful particle-based follow-up.

LDL-C and non-HDL context

Adds direct clearance-related context.

Triglycerides

Helpful when the broader lipid pattern overlaps.

Where DNA analysis helps

DNA helps show when clearance deserves more emphasis than generic cholesterol interpretation alone.

Example Insight

Your LDL-clearance pathway may deserve structured follow-up when particle burden looks more informative than total cholesterol.

Suggested validation: ApoB plus LDL-related context.

What to do next

  • Use ApoB before over-reading total cholesterol.
  • Review LDLR with APOE and CETP when transport and clearance overlap.
  • Treat genetics as a prioritization tool, not a standalone answer.

Upload your DNA file and receive a structured metabolic pathway analysis with prioritized insights and suggested validation markers.

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Related pages

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CETP lipid transport gene

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ApoB and lipid risk

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Lipid transport pathway

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Related symptom angle

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