3-hydroxybutyroylglycine** to caprylate (8:0)

Numerator Metabolite

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

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: rs4949674

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):
0.281
Position:
76213715
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
12.392
Reference Allele:
C
-log10(P):
-79.536
MAF:
0.308
Beta (Num):
0.156
Novel Locus:
No
SE (Num):
0.015
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 (Acyl Glycine).4[1]

Denominator Metabolite Explanation:

Medium-chain fatty acid beta-oxidation.1[1], 5[2]

Ratio Explanation:

An increased ratio indicates impaired ACADM activity, leading to the buildup of caprylate-derived intermediates that are shunted towards alternative detoxification pathways, forming acylglycines.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced ACADM function due to genetic variants disrupts fatty acid oxidation, reflected by the altered metabolite ratio. This disruption is characteristic of MCAD deficiency.1[1], 3[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