beta-hydroxyisovalerate to indoleacetoylcarnitine*

Numerator Metabolite

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

Denominator Metabolite

Metabolite Accession: GCST90200203
Name: indoleacetoylcarnitine*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs28415528

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):
-0.263
Position:
151879761
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
-12.114
Reference Allele:
G
-log10(P):
-76.106
MAF:
0.317
Beta (Num):
-0.108
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.155
SE (Den):
0.017
No CNV overlap
rQTL cluster:
155
Reaction Distance:
NA
Closest Genes:
THEM4 THEM5 C2CD4D RORC S100A10

LLM Analysis

Numerator Metabolite Explanation:

Leucine metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Tryptophan metabolism.7[1], 8[2], 9[3], 10[4]

Ratio Explanation:

The ratio may reflect a balance between leucine and tryptophan metabolism, potentially influenced by THEM4's role in lipid metabolism and signaling.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

The genetic association with THEM4, an acyl-CoA thioesterase involved in lipid metabolism and cellular signaling, suggests a potential link to height.1[1], 2[2], 3[3] However, the precise mechanism connecting THEM4, the beta-hydroxyisovalerate to indoleacetoylcarnitine ratio, and height is not established and requires further investigation.

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