gamma-glutamylhistidine to isovalerylglycine

Numerator Metabolite

Structure of gamma-glutamylhistidine
Metabolite Accession: GCST90200315
Name: gamma-glutamylhistidine
Hmdb Id: HMDB0029151
Super Pathway: NA
Sub Pathway: NA
Inchikey: PXVCMZCJAUJLJP

Denominator Metabolite

Structure of isovalerylglycine
Metabolite Accession: GCST90199785
Name: isovalerylglycine
Hmdb Id: HMDB00678
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZRQXMKMBBMNNQC

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):
-0.321
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
-14.034
Reference Allele:
C
-log10(P):
-101.356
MAF:
0.310
Beta (Num):
-0.102
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.219
SE (Den):
0.018
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Gamma-glutamyl cycle, glutathione metabolism.5[1]

Denominator Metabolite Explanation:

Leucine catabolism, glycine conjugation.6[1], 7[2], 8[3]

Ratio Explanation:

This ratio may reflect systemic amino acid dysregulation, potentially secondary to urea cycle dysfunction, but lacks a direct biochemical interaction between the metabolites.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered CPS1 function disrupts the urea cycle, directly impacting nitrogen metabolism and kidney function (BUN, creatinine, renal failure) and liver function (cholelithiasis), with the ratio acting as a complex biomarker of this state.1[1], 9[2], 10[3], 11[4], 12[5], 13[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