beta-hydroxyisovalerate to gamma-glutamylisoleucine*

Numerator Metabolite

Metabolite Accession: GCST90200322
Name: beta-hydroxyisovalerate
Hmdb Id: HMDB0000754
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of gamma-glutamylisoleucine*
Metabolite Accession: GCST90199775
Name: gamma-glutamylisoleucine*
Hmdb Id: HMDB0011170
Super Pathway: NA
Sub Pathway: NA
Inchikey: SNCKGJWJABDZHI

Associated Genomic Regions

Region: rs9940632

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:
16
Beta (Ratio):
0.495
Position:
20563253
SE (Ratio):
0.051
Effect Allele:
G
Z-score (Ratio):
9.608
Reference Allele:
A
-log10(P):
-48.655
MAF:
0.024
Beta (Num):
0.358
Novel Locus:
No
SE (Num):
0.049
Beta (Den):
-0.137
SE (Den):
0.049
No CNV overlap
rQTL cluster:
28
Reaction Distance:
NA
Closest Genes:
ACSM2B ACSM3 AC137056.1 ACSM2A ACSM1

LLM Analysis

Numerator Metabolite Explanation:

Leucine catabolism.4[1]

Denominator Metabolite Explanation:

Gamma-glutamyl cycle, Isoleucine metabolism.5[1], 6[2]

Ratio Explanation:

Altered ACSM2B may disrupt BCAA catabolism, increasing beta-hydroxyisovalerate from leucine, while changes in gamma-glutamylisoleucine suggest broader BCAA dysregulation.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

No phenotype data is provided, so a causal link between the ACSM2B variant, the metabolic ratio, and a clinical outcome cannot be established.

Phenotype Driver:

none

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