5-methylthioadenosine (mta) to isovalerylglycine

Numerator Metabolite

Structure of 5-methylthioadenosine (mta)
Metabolite Accession: GCST90200359
Name: 5-methylthioadenosine (mta)
Hmdb Id: HMDB0001173
Super Pathway: NA
Sub Pathway: NA
Inchikey: WUUGFSXJNOTRMR

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):
-0.326
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
-14.220
Reference Allele:
C
-log10(P):
-103.995
MAF:
0.310
Beta (Num):
-0.107
Novel Locus:
No
SE (Num):
0.016
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:

Methionine salvage, polyamine synthesis.3[1], 4[2], 5[3]

Denominator Metabolite Explanation:

Leucine catabolism, fatty acid metabolism.6[1], 7[2], 8[3]

Ratio Explanation:

The ratio reflects altered nitrogen and amino acid metabolism, potentially indicating impaired urea cycle function (CPS1) relative to branched-chain amino acid breakdown (isovalerylglycine).

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CPS1 dysfunction may lead to hyperammonemia and altered nitrogen metabolism, contributing to renal stress.1[1], 9[2], 10[3], 11[4], 12[5] Lower kidney clearance of isovalerylglycine is associated with chronic kidney disease progression.13[6], 14[7], 15[8] This suggests a combined contribution to kidney-related phenotypes.

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