arginine to guanidinoacetate

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 guanidinoacetate
Metabolite Accession: GCST90200384
Name: guanidinoacetate
Hmdb Id: HMDB0000128
Super Pathway: NA
Sub Pathway: NA
Inchikey: BPMFZUMJYQTVII

Associated Genomic Regions

Region: rs1047891

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

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SNP Summary

Chr:
2
Beta (Ratio):
-0.169
Position:
211540507
SE (Ratio):
0.018
Effect Allele:
A
Z-score (Ratio):
-9.148
Reference Allele:
C
-log10(P):
-44.290
MAF:
0.309
Beta (Num):
-0.090
Novel Locus:
Yes ✔️
SE (Num):
0.017
Beta (Den):
0.079
SE (Den):
0.016
No CNV overlap
rQTL cluster:
140
Reaction Distance:
1.0
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Urea cycle, creatine biosynthesis.4[1], 5[2]

Denominator Metabolite Explanation:

Creatine biosynthesis.4[1], 6[2], 5[3]

Ratio Explanation:

This ratio reflects the balance between arginine availability, influenced by CPS1-mediated urea cycle activity, and its consumption for guanidinoacetate synthesis.7[1]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired CPS1 function can alter arginine levels, affecting downstream pathways like creatine and nitric oxide synthesis, and is linked to phenotypes like cholelithiasis and renal failure, as indicated by changes in BUN and creatinine.1[1], 8[2], 9[3], 10[4], 11[5], 12[6]

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