hexanoylglutamine to (s)-3-hydroxybutyrylcarnitine

Numerator Metabolite

Structure of hexanoylglutamine
Metabolite Accession: GCST90199833
Name: hexanoylglutamine
Hmdb Id: HMDB0242182
Super Pathway: NA
Sub Pathway: NA
Inchikey: NONGMLDQXRDGIT

Denominator Metabolite

Structure of (s)-3-hydroxybutyrylcarnitine
Metabolite Accession: GCST90200088
Name: (s)-3-hydroxybutyrylcarnitine
Hmdb Id: HMDB0013127
Super Pathway: NA
Sub Pathway: NA
Inchikey: UEFRDQSMQXDWTO

Associated Genomic Regions

Region: rs7541058

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):
-0.424
Position:
76199817
SE (Ratio):
0.016
Effect Allele:
T
Z-score (Ratio):
-25.755
Reference Allele:
C
-log10(P):
-335.126
MAF:
0.336
Beta (Num):
-0.271
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.152
SE (Den):
0.015
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism/oxidation

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, Ketone body metabolism

Ratio Explanation:

An elevated ratio indicates impaired ACADM function, causing upstream accumulation of hexanoyl-CoA (forming hexanoylglutamine) relative to downstream intermediates like (s)-3-hydroxybutyrylcarnitine.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variants in ACADM impair fatty acid oxidation, reflected by the metabolite ratio. This dysregulated energy and lipid metabolism likely contributes to observed variations in hematological indices (Hb, Ht, MCH), body weight, and metabolic markers like LDL-cholesterol and HbA1c.4[1], 5[2]

Phenotype Driver:

Gene-centric:ACADM

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