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Primary topic: GCH1 gene DNA analysis

GCH1 Gene and Metabolism: What It Can Mean in a Pathway Report

GCH1 becomes more useful when nitric oxide / vascular tone looks like a meaningful follow-up area instead of just background context.

What is the GCH1 gene?

GCH1 contributes to BH4 support behind endothelial nitric-oxide production. That makes it more useful as part of a pathway view than as an isolated SNP call.

How GCH1 affects metabolism

If GCH1-related support is less favorable, the pathway can look more pressured under load and the linked biomarkers become more useful to validate directly.

What happens when GCH1 is altered

An altered GCH1 pattern does not diagnose anything on its own, but it does change which follow-up markers deserve attention first.

Curated SNP evidence for GCH1

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.

Nitric oxide / vascular tone

Evidence-backed report connection

GCH1 currently has 2 curated SNPs, 9 claim-level scores, and 0 claims eligible for pathway scoring.

Open the sample report
rs3783641GCH1 supporting signal6 claims · 12 study rows

unknown · AA

GCH1 unscored target

Not used for pathway scoring

rs3783641 AA has no scored directional claim for GCH1 unscored target.

rs3783641 is not scored here as a standalone GCH1 activity or biomarker marker. The available human evidence is mainly haplotype-based and not strong enough for a simple genotype effect.

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 place rs3783641 in GCH1, the GTP cyclohydrolase 1 gene, and list A, C, and T as observed letters for this marker.Evidence 2other · loose proxyA population study tested a proposed GCH1 pain-related haplotype that includes rs3783641, but did not find a significant association with persistent chronic widespread pain. This supports treating rs3783641 as haplotype context rather than a standalone enzyme-activity result.

unknown · AC

GCH1 unscored target

Not used for pathway scoring

rs3783641 AC has no scored directional claim for GCH1 unscored target.

rs3783641 is not scored here as a standalone GCH1 activity or biomarker marker. The available human evidence is mainly haplotype-based and not strong enough for a simple genotype effect.

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 place rs3783641 in GCH1, the GTP cyclohydrolase 1 gene, and list A, C, and T as observed letters for this marker.Evidence 2other · loose proxyA population study tested a proposed GCH1 pain-related haplotype that includes rs3783641, but did not find a significant association with persistent chronic widespread pain. This supports treating rs3783641 as haplotype context rather than a standalone enzyme-activity result.

unknown · AT

GCH1 unscored target

Not used for pathway scoring

rs3783641 AT has no scored directional claim for GCH1 unscored target.

rs3783641 is not scored here as a standalone GCH1 activity or biomarker marker. The available human evidence is mainly haplotype-based and not strong enough for a simple genotype effect.

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 place rs3783641 in GCH1, the GTP cyclohydrolase 1 gene, and list A, C, and T as observed letters for this marker.Evidence 2other · loose proxyA population study tested a proposed GCH1 pain-related haplotype that includes rs3783641, but did not find a significant association with persistent chronic widespread pain. This supports treating rs3783641 as haplotype context rather than a standalone enzyme-activity result.

unknown · CC

GCH1 unscored target

Not used for pathway scoring

rs3783641 CC has no scored directional claim for GCH1 unscored target.

rs3783641 is not scored here as a standalone GCH1 activity or biomarker marker. The available human evidence is mainly haplotype-based and not strong enough for a simple genotype effect.

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 place rs3783641 in GCH1, the GTP cyclohydrolase 1 gene, and list A, C, and T as observed letters for this marker.Evidence 2other · loose proxyA population study tested a proposed GCH1 pain-related haplotype that includes rs3783641, but did not find a significant association with persistent chronic widespread pain. This supports treating rs3783641 as haplotype context rather than a standalone enzyme-activity result.

unknown · CT

GCH1 unscored target

Not used for pathway scoring

rs3783641 CT has no scored directional claim for GCH1 unscored target.

rs3783641 is not scored here as a standalone GCH1 activity or biomarker marker. The available human evidence is mainly haplotype-based and not strong enough for a simple genotype effect.

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 place rs3783641 in GCH1, the GTP cyclohydrolase 1 gene, and list A, C, and T as observed letters for this marker.Evidence 2other · loose proxyA population study tested a proposed GCH1 pain-related haplotype that includes rs3783641, but did not find a significant association with persistent chronic widespread pain. This supports treating rs3783641 as haplotype context rather than a standalone enzyme-activity result.

unknown · TT

GCH1 unscored target

Not used for pathway scoring

rs3783641 TT has no scored directional claim for GCH1 unscored target.

rs3783641 is not scored here as a standalone GCH1 activity or biomarker marker. The available human evidence is mainly haplotype-based and not strong enough for a simple genotype effect.

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 place rs3783641 in GCH1, the GTP cyclohydrolase 1 gene, and list A, C, and T as observed letters for this marker.Evidence 2other · loose proxyA population study tested a proposed GCH1 pain-related haplotype that includes rs3783641, but did not find a significant association with persistent chronic widespread pain. This supports treating rs3783641 as haplotype context rather than a standalone enzyme-activity result.
rs8007267GCH1 supporting signal3 claims · 6 study rows

unknown · CC

GCH1 unscored target

Not used for pathway scoring

rs8007267 CC has no scored directional claim for GCH1 unscored target.

rs8007267 is treated as GCH1 haplotype context, not as a standalone activity or biomarker score. All genotypes are neutral in this simplified end-user file.

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 list rs8007267 as a C/T single-nucleotide marker on chromosome 14. The public RefSNP record supports the genotype letters used here.PMC3704723expression eqtl · loose proxyA GCH1 haplotype study describes rs8007267 as one of three tag SNPs used to represent a GCH1 haplotype related to GCH1 expression and tetrahydrobiopterin biology. The study evaluates haplotypes, not a standalone rs8007267 genotype effect.

unknown · CT

GCH1 unscored target

Not used for pathway scoring

rs8007267 CT has no scored directional claim for GCH1 unscored target.

rs8007267 is treated as GCH1 haplotype context, not as a standalone activity or biomarker score. All genotypes are neutral in this simplified end-user file.

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 list rs8007267 as a C/T single-nucleotide marker on chromosome 14. The public RefSNP record supports the genotype letters used here.PMC3704723expression eqtl · loose proxyA GCH1 haplotype study describes rs8007267 as one of three tag SNPs used to represent a GCH1 haplotype related to GCH1 expression and tetrahydrobiopterin biology. The study evaluates haplotypes, not a standalone rs8007267 genotype effect.

unknown · TT

GCH1 unscored target

Not used for pathway scoring

rs8007267 TT has no scored directional claim for GCH1 unscored target.

rs8007267 is treated as GCH1 haplotype context, not as a standalone activity or biomarker score. All genotypes are neutral in this simplified end-user file.

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 list rs8007267 as a C/T single-nucleotide marker on chromosome 14. The public RefSNP record supports the genotype letters used here.PMC3704723expression eqtl · loose proxyA GCH1 haplotype study describes rs8007267 as one of three tag SNPs used to represent a GCH1 haplotype related to GCH1 expression and tetrahydrobiopterin biology. The study evaluates haplotypes, not a standalone rs8007267 genotype effect.

Common symptoms people report

  • nitric oxide / vascular tone can overlap with more persistent symptom patterns
  • marker-driven follow-up may matter more than generic advice
  • mixed responses can make the pathway easier to miss without structured review

Biomarkers to validate

Blood pressure context

Primary follow-up marker for GCH1 inside nitric oxide / vascular tone.

Related pathway markers

Useful when the pathway needs to be validated as a system rather than as one variant.

Where DNA analysis helps

DNA helps decide whether GCH1 should move nitric oxide / vascular tone higher on the follow-up list before broad interventions are assumed.

Example interpretation

GCH1 can strengthen the case for nitric oxide / vascular tone follow-up when the rest of the pathway points in a similar direction.

Suggested validation: Blood pressure context.

What to do next

  • Use Blood pressure context and pathway context before assuming the gene matters in practice.
  • Read GCH1 alongside the related genes in the same pathway instead of as a standalone result.

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

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Related pages

NOS3

NOS3 nitric oxide gene

ARG1

ARG1 gene DNA analysis

Arginine, citrulline, and nitric oxide

Arginine, citrulline, and nitric oxide DNA follow-up

Blood pressure and endothelial context

Blood pressure and endothelial context DNA follow-up

Nitric oxide and vascular tone pathway

nitric oxide vascular tone pathway

Glucose regulation pathway

glucose regulation pathway

How accurate are DNA metabolism reports?

how accurate are DNA metabolism reports

23andMe vs Metastate metabolism report

23andMe vs Metastate metabolism report

Related symptom angle

Slow metabolism genetics

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