isovalerylglycine to n-acetylthreonine

Numerator Metabolite

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

Denominator Metabolite

Structure of n-acetylthreonine
Metabolite Accession: GCST90199726
Name: n-acetylthreonine
Hmdb Id: HMDB0062557
Super Pathway: NA
Sub Pathway: NA
Inchikey: PEDXUVCGOLSNLQ

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):
0.306
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
13.557
Reference Allele:
C
-log10(P):
-94.737
MAF:
0.314
Beta (Num):
0.219
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.087
SE (Den):
0.016
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Leucine catabolism, fatty acid metabolism.5[1], 6[2]

Denominator Metabolite Explanation:

Threonine metabolism, protein N-terminal acetylation.7[1], 8[2]

Ratio Explanation:

The ratio may indicate altered nitrogen disposal (CPS1) and mitochondrial stress, impacting branched-chain amino acid (isovalerylglycine) and other amino acid (n-acetylthreonine) pathways.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired CPS1 function can cause hyperammonemia and metabolic distress.9[1], 10[2], 11[3] This systemic impact, reflected by the metabolite ratio, likely contributes to hepatic (Cholelithiasis) and renal (Chronic kidney disease) pathologies by disrupting nitrogen homeostasis and organ function.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