beta-hydroxyisovalerate to 4-hydroxyphenylacetylglutamine

Numerator Metabolite

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

Denominator Metabolite

Structure of 4-hydroxyphenylacetylglutamine
Metabolite Accession: GCST90200106
Name: 4-hydroxyphenylacetylglutamine
Hmdb Id: HMDB0006061
Super Pathway: NA
Sub Pathway: NA
Inchikey: CYRKYXZJUIBBJX

Associated Genomic Regions

Region: rs10888445

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:
1
Beta (Ratio):
-0.186
Position:
151841770
SE (Ratio):
0.020
Effect Allele:
A
Z-score (Ratio):
-9.359
Reference Allele:
T
-log10(P):
-46.267
MAF:
0.394
Beta (Num):
-0.111
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.075
SE (Den):
0.016
No CNV overlap
rQTL cluster:
155
Reaction Distance:
NA
Closest Genes:
THEM4 THEM5 C2CD4D RORC LINGO4

LLM Analysis

Numerator Metabolite Explanation:

Leucine catabolism4[1], 5[2]

Denominator Metabolite Explanation:

Tyrosine metabolism6[1]

Ratio Explanation:

The ratio reflects altered metabolism in leucine and tyrosine pathways, potentially influenced by THEM4's role in mitochondrial lipid and energy balance.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered THEM4 function may disrupt mitochondrial energy balance and increase oxidative stress, contributing to the weakening of the colonic wall, a key factor in diverticular disease.7[1], 8[2], 9[3], 10[4]

Phenotype Driver:

Gene-centric:THEM4

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