sebacate (c10-dc) to (s)-3-hydroxybutyrylcarnitine

Numerator Metabolite

Structure of sebacate (c10-dc)
Metabolite Accession: GCST90199718
Name: sebacate (c10-dc)
Hmdb Id: HMDB0000792
Super Pathway: NA
Sub Pathway: NA
Inchikey: CXMXRPHRNRROMY

Denominator Metabolite

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

Associated Genomic Regions

Region: rs7541058

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):
-0.222
Position:
76199817
SE (Ratio):
0.019
Effect Allele:
T
Z-score (Ratio):
-11.649
Reference Allele:
C
-log10(P):
-70.534
MAF:
0.337
Beta (Num):
-0.070
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.152
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:

Dicarboxylic fatty acid omega-oxidation.4[1]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, Ketone body metabolism.5[1], 6[2]

Ratio Explanation:

A high ratio suggests impaired beta-oxidation due to ACADM dysfunction, leading to the accumulation of sebacate from omega-oxidation and decreased synthesis of (s)-3-hydroxybutyrylcarnitine.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Impaired ACADM function reduces fatty acid beta-oxidation, shunting medium-chain fatty acids toward omega-oxidation, thus increasing sebacate. The decrease in beta-oxidation intermediates leads to lower (s)-3-hydroxybutyrylcarnitine levels. No direct phenotype link is established in the provided data.

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