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Primary topic: CHDH choline oxidation gene

CHDH Gene and Metabolism: What It Means for Your Body

CHDH matters when choline handling and betaine support may be part of the same methyl-donor problem.

What is the CHDH gene?

CHDH helps convert choline toward betaine support, linking choline availability to backup remethylation pathways.

How CHDH affects metabolism

If CHDH-related conversion is weaker, reliance on dietary choline and other methyl-donor support can become more important.

What happens when CHDH is altered

Altered CHDH function does not prove deficiency, but it increases the value of checking whether choline support and homocysteine context line up.

Curated SNP evidence for CHDH

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.

Choline support

Evidence-backed report connection

CHDH currently has 2 curated SNPs, 6 claim-level scores, and 2 claims eligible for pathway scoring.

Open the sample report
rs12676G233T3 claims · 6 study rows

enzyme activity · AA

CHDH enzyme activity

Strong

rs12676 AA is associated with reduced CHDH enzyme activity.

CHDH rs12676 is scored as a lower choline dehydrogenase activity tendency for A-containing genotypes, strongest for AA and intermediate for AC.

Likely effectLower enzyme activity signal
Signal sizeModerate signal
Evidence supportModerate support
Report useIncluded in pathway scoring
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP data place rs12676 in CHDH, the choline dehydrogenase gene, and annotate it as a coding missense variant. The common genotype letters represented here are A and C.PubMed 10functional assay · directJohnson and colleagues describe rs12676 as a functional CHDH coding variant. In their study, variant-side genotypes had lower sperm ATP concentrations and lower CHDH protein in sperm and hepatocytes, supporting a cautious lower CHDH activity tendency for A-containing genotypes in this file.

enzyme activity · AC

CHDH enzyme activity

Moderate

rs12676 AC is associated with reduced CHDH enzyme activity.

CHDH rs12676 is scored as a lower choline dehydrogenase activity tendency for A-containing genotypes, strongest for AA and intermediate for AC.

Likely effectLower enzyme activity signal
Signal sizeSmall signal
Evidence supportModerate support
Report useIncluded in pathway scoring
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP data place rs12676 in CHDH, the choline dehydrogenase gene, and annotate it as a coding missense variant. The common genotype letters represented here are A and C.PubMed 10functional assay · directJohnson and colleagues describe rs12676 as a functional CHDH coding variant. In their study, variant-side genotypes had lower sperm ATP concentrations and lower CHDH protein in sperm and hepatocytes, supporting a cautious lower CHDH activity tendency for A-containing genotypes in this file.

enzyme activity · CC

CHDH enzyme activity

Not used for pathway scoring

rs12676 CC has no scored directional claim for CHDH enzyme activity.

CHDH rs12676 is scored as a lower choline dehydrogenase activity tendency for A-containing genotypes, strongest for AA and intermediate for AC.

Likely effectNo clear enzyme signal
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP data place rs12676 in CHDH, the choline dehydrogenase gene, and annotate it as a coding missense variant. The common genotype letters represented here are A and C.PubMed 10functional assay · directJohnson and colleagues describe rs12676 as a functional CHDH coding variant. In their study, variant-side genotypes had lower sperm ATP concentrations and lower CHDH protein in sperm and hepatocytes, supporting a cautious lower CHDH activity tendency for A-containing genotypes in this file.
rs9001CHDH supporting signal3 claims · 9 study rows

unknown · GG

CHDH unscored target

Not used for pathway scoring

rs9001 GG has no scored directional claim for CHDH unscored target.

CHDH rs9001 is not scored here as a standalone choline dehydrogenase activity effect. Human studies suggest context-dependent differences in choline handling, but they do not justify a simple direction for all users.

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 rs9001 as a CHDH coding missense variant and list T and G as the observed genomic letters. CHDH encodes choline dehydrogenase, an enzyme involved in choline oxidation.PMC1574369biomarker association · loose proxyA controlled low-choline feeding study reported that CHDH rs9001 was associated with lower susceptibility to low-choline organ-dysfunction findings. The same article states that the functional effects of these CHDH polymorphisms were not yet established, so this file does not assign a direct enzyme-activity direction.PMC5343788biomarker association · loose proxyA controlled feeding study in women reported that CHDH rs9001 variant carriers differed in choline-related metabolic flux and partitioning, with effects depending on reproductive state and choline intake. This supports end-user caution rather than a single universal genotype direction.

unknown · GT

CHDH unscored target

Not used for pathway scoring

rs9001 GT has no scored directional claim for CHDH unscored target.

CHDH rs9001 is not scored here as a standalone choline dehydrogenase activity effect. Human studies suggest context-dependent differences in choline handling, but they do not justify a simple direction for all users.

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 rs9001 as a CHDH coding missense variant and list T and G as the observed genomic letters. CHDH encodes choline dehydrogenase, an enzyme involved in choline oxidation.PMC1574369biomarker association · loose proxyA controlled low-choline feeding study reported that CHDH rs9001 was associated with lower susceptibility to low-choline organ-dysfunction findings. The same article states that the functional effects of these CHDH polymorphisms were not yet established, so this file does not assign a direct enzyme-activity direction.PMC5343788biomarker association · loose proxyA controlled feeding study in women reported that CHDH rs9001 variant carriers differed in choline-related metabolic flux and partitioning, with effects depending on reproductive state and choline intake. This supports end-user caution rather than a single universal genotype direction.

unknown · TT

CHDH unscored target

Not used for pathway scoring

rs9001 TT has no scored directional claim for CHDH unscored target.

CHDH rs9001 is not scored here as a standalone choline dehydrogenase activity effect. Human studies suggest context-dependent differences in choline handling, but they do not justify a simple direction for all users.

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 rs9001 as a CHDH coding missense variant and list T and G as the observed genomic letters. CHDH encodes choline dehydrogenase, an enzyme involved in choline oxidation.PMC1574369biomarker association · loose proxyA controlled low-choline feeding study reported that CHDH rs9001 was associated with lower susceptibility to low-choline organ-dysfunction findings. The same article states that the functional effects of these CHDH polymorphisms were not yet established, so this file does not assign a direct enzyme-activity direction.PMC5343788biomarker association · loose proxyA controlled feeding study in women reported that CHDH rs9001 variant carriers differed in choline-related metabolic flux and partitioning, with effects depending on reproductive state and choline intake. This supports end-user caution rather than a single universal genotype direction.

Common symptoms people report

  • poor tolerance to low-choline intake
  • unclear response to choline-focused support
  • overlap between nutrient and methylation complaints

Biomarkers to validate

Homocysteine

Useful for methyl-donor context.

Liver enzymes

Adds overlap with hepatic choline handling.

Triglycerides

Helpful when choline and lipid handling overlap.

Where DNA analysis helps

DNA can show when choline-to-betaine conversion deserves more attention in a pathway-based nutrition review.

Example Insight

Your choline-support pathway may depend more heavily on dietary and conversion-side resilience than expected.

Suggested validation: homocysteine plus liver-context markers.

What to do next

  • Review CHDH together with PEMT and BHMT.
  • Use homocysteine and liver-context markers before assuming the pathway is active.
  • Treat the gene as a prioritization hint rather than a protocol.

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

Get My DNA Report

Related pages

PEMT

PEMT gene choline metabolism

BHMT

BHMT gene function

Choline status

choline status and methyl donor support

Liver enzymes

liver enzymes and choline support

Choline and phosphatidylcholine pathway

choline and phosphatidylcholine pathway

B12 transport and recycling pathway

B12 transport and recycling pathway

Can DNA predict metabolism?

can DNA predict metabolism

23andMe vs Metastate metabolism report

23andMe vs Metastate metabolism report

Related symptom angle

Why supplements do not work for me

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