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Primary topic: ARG1 gene DNA analysis

ARG1 Gene and Metabolism: What It Can Mean in a Pathway Report

ARG1 becomes more useful when nitric oxide / vascular tone looks like a meaningful follow-up area instead of just background context.

What is the ARG1 gene?

ARG1 contributes to arginine availability shaping nitric-oxide support. That makes it more useful as part of a pathway view than as an isolated SNP call.

How ARG1 affects metabolism

If ARG1-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 ARG1 is altered

An altered ARG1 pattern does not diagnose anything on its own, but it does change which follow-up markers deserve attention first.

Curated SNP evidence for ARG1

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

ARG1 currently has 3 curated SNPs, 7 claim-level scores, and 1 claims eligible for pathway scoring.

Open the sample report
rs104893948ARG1 p.Gly235Arg1 claims · 2 study rows

enzyme activity · AA or compound-heterozygous ARG1 deficiency context

ARG1 arginine hydrolysis activity tendency

Strong

rs104893948 A / ARG1 c.703G>A / p.Gly235Arg is associated with lower arginase 1 arginine-hydrolysis activity and altered arginine availability in recessive or compound-heterozygous contexts.

ARG1 rs104893948 A is staged as a recessive arginase-deficiency allele affecting ARG1 activity, plasma arginine, and nitric-oxide substrate context.

Likely effectLower enzyme activity signal
Signal sizeModerate signal
Evidence supportStrong support
Report useIncluded in pathway scoring
Show study evidence
ClinVar RCV000667889clinical curation · directClinVar maps rs104893948 to ARG1 NM_000045.4:c.703G>A / p.Gly235Arg and classifies the variant-condition record for arginase deficiency as pathogenic with multiple submitters and no conflicts.GeneReviews Arginase Deficiencyclinical curation · directGeneReviews supports arginase deficiency diagnosis through elevated plasma arginine, biallelic ARG1 pathogenic variants, and/or very low red blood cell arginase activity, connecting ARG1 loss to arginine-disposal biomarkers.
rs2781666ARG1 supporting signal3 claims · 9 study rows

enzyme activity · TT

ARG1 enzyme activity

Not used for pathway scoring

rs2781666 TT is associated with increased ARG1 enzyme activity.

For rs2781666, T-containing genotypes are scored as a cautious tendency toward higher ARG1 arginase activity, strongest for TT and intermediate for GT.

Likely effectHigher enzyme activity signal
Signal sizeSmall signal
Evidence supportLimited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP places rs2781666 in ARG1. This supports assigning the record to arginase 1.PMC6882636biomarker association · loose proxyIn a case-control study of idiopathic dilated cardiomyopathy, serum arginase activity differed by rs2781666 genotype: TT carriers had the highest reported activity, GT carriers were intermediate, and GG carriers were lowest. This supports a cautious higher-arginase-activity tendency for T-containing genotypes.PMC6206777other · loose proxyThe asthma study reports disease association for rs2781666 G/T genotype and T allele, but it does not measure ARG1 enzyme activity by genotype. It is retained as context and not scored for activity direction.

enzyme activity · GT

ARG1 enzyme activity

Not used for pathway scoring

rs2781666 GT is associated with increased ARG1 enzyme activity.

For rs2781666, T-containing genotypes are scored as a cautious tendency toward higher ARG1 arginase activity, strongest for TT and intermediate for GT.

Likely effectHigher enzyme activity signal
Signal sizeSmall signal
Evidence supportLimited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP places rs2781666 in ARG1. This supports assigning the record to arginase 1.PMC6882636biomarker association · loose proxyIn a case-control study of idiopathic dilated cardiomyopathy, serum arginase activity differed by rs2781666 genotype: TT carriers had the highest reported activity, GT carriers were intermediate, and GG carriers were lowest. This supports a cautious higher-arginase-activity tendency for T-containing genotypes.PMC6206777other · loose proxyThe asthma study reports disease association for rs2781666 G/T genotype and T allele, but it does not measure ARG1 enzyme activity by genotype. It is retained as context and not scored for activity direction.

enzyme activity · GG

ARG1 enzyme activity

Not used for pathway scoring

rs2781666 GG has no scored directional claim for ARG1 enzyme activity.

For rs2781666, T-containing genotypes are scored as a cautious tendency toward higher ARG1 arginase activity, strongest for TT and intermediate for GT.

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 places rs2781666 in ARG1. This supports assigning the record to arginase 1.PMC6882636biomarker association · loose proxyIn a case-control study of idiopathic dilated cardiomyopathy, serum arginase activity differed by rs2781666 genotype: TT carriers had the highest reported activity, GT carriers were intermediate, and GG carriers were lowest. This supports a cautious higher-arginase-activity tendency for T-containing genotypes.PMC6206777other · loose proxyAn asthma study describes rs2781666 as an ARG1 promoter-region SNP and reports that rs2781666 G/T genotype and T allele were associated with asthma susceptibility in that cohort. This is supportive context, but it is disease association evidence rather than a direct activity measurement for all users.
rs2781667ARG1 supporting signal3 claims · 9 study rows

enzyme activity · TT

ARG1 enzyme activity

Not used for pathway scoring

rs2781667 TT is associated with increased ARG1 enzyme activity.

For rs2781667, T-containing genotypes are scored as a cautious tendency toward higher ARG1 arginase activity, strongest for TT and intermediate for CT.

Likely effectHigher enzyme activity signal
Signal sizeSmall signal
Evidence supportLimited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP places rs2781667 in ARG1. This supports assigning the record to arginase 1.PMC6882636biomarker association · loose proxyIn a case-control study of idiopathic dilated cardiomyopathy, serum arginase activity differed by rs2781667 genotype: TT carriers had the highest reported activity, CT carriers were intermediate, and CC carriers were lowest. This supports a cautious higher-arginase-activity tendency for T-containing genotypes.PMC2597928other · loose proxyThe myocardial-infarction and carotid-intima media study includes rs2781667 in ARG1 haplotype analyses but does not measure ARG1 activity by genotype. It is retained as context only.

enzyme activity · CT

ARG1 enzyme activity

Not used for pathway scoring

rs2781667 CT is associated with increased ARG1 enzyme activity.

For rs2781667, T-containing genotypes are scored as a cautious tendency toward higher ARG1 arginase activity, strongest for TT and intermediate for CT.

Likely effectHigher enzyme activity signal
Signal sizeSmall signal
Evidence supportLimited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP places rs2781667 in ARG1. This supports assigning the record to arginase 1.PMC6882636biomarker association · loose proxyIn a case-control study of idiopathic dilated cardiomyopathy, serum arginase activity differed by rs2781667 genotype: TT carriers had the highest reported activity, CT carriers were intermediate, and CC carriers were lowest. This supports a cautious higher-arginase-activity tendency for T-containing genotypes.PMC2597928other · loose proxyThe myocardial-infarction and carotid-intima media study includes rs2781667 in ARG1 haplotype analyses but does not measure ARG1 activity by genotype. It is retained as context only.

enzyme activity · CC

ARG1 enzyme activity

Not used for pathway scoring

rs2781667 CC has no scored directional claim for ARG1 enzyme activity.

For rs2781667, T-containing genotypes are scored as a cautious tendency toward higher ARG1 arginase activity, strongest for TT and intermediate for CT.

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 places rs2781667 in ARG1. This supports assigning the record to arginase 1.PMC6882636biomarker association · loose proxyIn a case-control study of idiopathic dilated cardiomyopathy, serum arginase activity differed by rs2781667 genotype: TT carriers had the highest reported activity, CT carriers were intermediate, and CC carriers were lowest. This supports a cautious higher-arginase-activity tendency for T-containing genotypes.PMC2597928other · loose proxyA myocardial-infarction and carotid intima-media thickness study included rs2781667 among ARG1 variants and treated C as the common allele in haplotype analyses. This supports the ARG1 vascular-research context but does not independently establish a general activity direction.

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

Arginine / citrulline context

Primary follow-up marker for ARG1 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 ARG1 should move nitric oxide / vascular tone higher on the follow-up list before broad interventions are assumed.

Example interpretation

ARG1 can strengthen the case for nitric oxide / vascular tone follow-up when the rest of the pathway points in a similar direction.

Suggested validation: Arginine / citrulline context.

What to do next

  • Use Arginine / citrulline context and pathway context before assuming the gene matters in practice.
  • Read ARG1 alongside the related genes in the same pathway instead of as a standalone result.

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Related pages

NOS3

NOS3 nitric oxide gene

GCH1

GCH1 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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