isovalerylglycine to threonine

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 threonine
Metabolite Accession: GCST90200432
Name: threonine
Hmdb Id: HMDB0000167
Super Pathway: NA
Sub Pathway: NA
Inchikey: AYFVYJQAPQTCCC

Associated Genomic Regions

Region: rs1047891

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Clumped rQTL variant

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SNP Summary

Chr:
2
Beta (Ratio):
0.342
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
15.073
Reference Allele:
C
-log10(P):
-116.536
MAF:
0.314
Beta (Num):
0.219
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.123
SE (Den):
0.017
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Leucine catabolism, glycine conjugation.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Threonine catabolism, Glycine and Serine metabolism.7[1], 8[2], 9[3]

Ratio Explanation:

An elevated ratio of isovalerylglycine to threonine may indicate altered nitrogen metabolism from CPS1 dysfunction, impacting both leucine and threonine breakdown and detoxification pathways.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired CPS1 function can disrupt nitrogen balance, contributing to the accumulation of metabolites like isovalerylglycine and potentially affecting threonine levels, which may associate with renal dysfunction and cholelithiasis through altered amino acid and nitrogen metabolism.10[1], 11[2], 12[3]

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