3-hydroxybutyroylglycine** to octanoylcarnitine (c8)

Numerator Metabolite

Metabolite Accession: GCST90200174
Name: 3-hydroxybutyroylglycine**
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of octanoylcarnitine (c8)
Metabolite Accession: GCST90199720
Name: octanoylcarnitine (c8)
Hmdb Id: HMDB0000791
Super Pathway: NA
Sub Pathway: NA
Inchikey: CXTATJFJDMJMIY

Associated Genomic Regions

Region: rs2185152

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):
0.545
Position:
76224010
SE (Ratio):
0.020
Effect Allele:
T
Z-score (Ratio):
27.869
Reference Allele:
C
-log10(P):
-391.893
MAF:
0.308
Beta (Num):
0.155
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.391
SE (Den):
0.016
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism (acyl glycine)3[1], 4[2]

Denominator Metabolite Explanation:

Fatty acid metabolism (beta-oxidation)5[1], 6[2], 7[3]

Ratio Explanation:

An elevated ratio of 3-hydroxybutyroylglycine to octanoylcarnitine suggests impaired ACADM activity, leading to the accumulation of upstream octanoylcarnitine and shunting of metabolites into alternative pathways.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced ACADM function leads to the accumulation of octanoylcarnitine, a substrate for the enzyme, and a concurrent increase in 3-hydroxybutyroylglycine. This metabolic disruption reflects inefficient fatty acid oxidation, but no direct phenotype link is provided.

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