2-butenoylglycine to caprylate (8:0)

Numerator Metabolite

Structure of 2-butenoylglycine
Metabolite Accession: GCST90200152
Name: 2-butenoylglycine
Hmdb Id: HMDB0341232
Super Pathway: NA
Sub Pathway: NA
Inchikey: WWJXRJJBIVSSNF

Denominator Metabolite

Structure of caprylate (8:0)
Metabolite Accession: GCST90200445
Name: caprylate (8:0)
Hmdb Id: HMDB0000482
Super Pathway: NA
Sub Pathway: NA
Inchikey: WWZKQHOCKIZLMA

Associated Genomic Regions

Region: rs12127402

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):
0.253
Position:
76205643
SE (Ratio):
0.024
Effect Allele:
A
Z-score (Ratio):
10.396
Reference Allele:
C
-log10(P):
-56.616
MAF:
0.323
Beta (Num):
0.129
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.124
SE (Den):
0.017
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism, Glycine conjugation pathway.5[1], 6[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation.1[1], 3[2], 4[3]

Ratio Explanation:

An increased ratio of 2-butenoylglycine to caprylate suggests impaired fatty acid oxidation due to deficient ACADM activity, affecting the breakdown of medium-chain fats.1[1], 7[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variants in ACADM alter its enzymatic function, which impacts the 2-butenoylglycine to caprylate ratio, reflecting a disruption in fatty acid metabolism. No associated phenotype was provided.1[1], 2[2]

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