3-hydroxybutyroylglycine** to 5-dodecenoate (12:1n7)

Numerator Metabolite

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

Denominator Metabolite

Structure of 5-dodecenoate (12:1n7)
Metabolite Accession: GCST90199723
Name: 5-dodecenoate (12:1n7)
Hmdb Id: HMDB0000529
Super Pathway: NA
Sub Pathway: NA
Inchikey: IJBFSOLHRKELLR

Associated Genomic Regions

Region: rs6593514

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):
0.219
Position:
76203891
SE (Ratio):
0.018
Effect Allele:
G
Z-score (Ratio):
12.077
Reference Allele:
A
-log10(P):
-75.653
MAF:
0.337
Beta (Num):
0.155
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.064
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 oxidation, glycine conjugation.4[1], 5[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation.6[1], 7[2]

Ratio Explanation:

This ratio likely reflects ACADM enzyme efficiency; elevated levels may indicate impaired medium-chain fatty acid oxidation, leading to acylglycine conjugate formation.8[1], 9[2], 10[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced ACADM activity, indicated by an increased ratio, impairs fatty acid metabolism, a hallmark of Medium-Chain Acyl-CoA Dehydrogenase Deficiency.8[1], 11[2] No associated phenotype was provided.

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