arginine to glycocholenate sulfate*

Numerator Metabolite

Structure of arginine
Metabolite Accession: GCST90200372
Name: arginine
Hmdb Id: HMDB0000517
Super Pathway: NA
Sub Pathway: NA
Inchikey: ODKSFYDXXFIFQN

Denominator Metabolite

Structure of glycocholenate sulfate*
Metabolite Accession: GCST90199841
Name: glycocholenate sulfate*
Hmdb Id: HMDB0242178
Super Pathway: NA
Sub Pathway: NA
Inchikey: OTUHTIDAACSDJD

Associated Genomic Regions

Region: rs1047891

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Clumped rQTL variant

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SNP Summary

Chr:
2
Beta (Ratio):
-0.182
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
-7.967
Reference Allele:
C
-log10(P):
-34.054
MAF:
0.309
Beta (Num):
-0.090
Novel Locus:
Yes ✔️
SE (Num):
0.017
Beta (Den):
0.092
SE (Den):
0.017
No CNV overlap
rQTL cluster:
Reaction Distance:
NA
Closest Genes:

LLM Analysis

Numerator Metabolite Explanation:

Urea cycle, Arginine and Proline Metabolism.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Secondary bile acid metabolism.8[1], 9[2]

Ratio Explanation:

A higher ratio suggests either increased arginine synthesis/intake or decreased glycocholenate sulfate synthesis/clearance, potentially reflecting altered urea cycle function and bile acid conjugation.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CPS1 variants can impair urea cycle function, affecting arginine levels and nitrogen balance.10[1] This metabolic disruption, potentially reflected in the ratio, is associated with an increased risk for cholelithiasis and chronic kidney disease.10[2], 11[3], 12[4]

Phenotype Driver:

Gene-centric:CPS1

Downloads

Download the full rQTL summary statistics file for this metabolite ratio. Data contains the loci listed here. For each SNP (chromosome, effect_allele, reference_allele, pos_name, position) these columns contain the summary statistics of the ratio (beta, pgain, pval, se, z), the numerator metabolite (beta_1, pval_1, n_iids_1, effect_allele_frequency_1, se_1, z_1) and the denominator metabolite (beta_2, pval_2, n_iids_2, effect_allele_frequency_2, se_2, z_2)

Download rQTL Data