(s)-3-hydroxybutyrylcarnitine to caprylate (8:0)

Numerator Metabolite

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

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):
0.271
Position:
76213715
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
12.046
Reference Allele:
C
-log10(P):
-75.275
MAF:
0.308
Beta (Num):
0.146
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 beta-oxidation, Ketone body metabolism.6[1], 7[2], 8[3]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, Reverse beta-oxidation.9[1], 10[2], 11[3]

Ratio Explanation:

Elevated (s)-3-hydroxybutyrylcarnitine with decreased caprylate suggests impaired ACADM activity, leading to incomplete fatty acid oxidation and accumulation of upstream metabolites.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

none

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