3-hydroxysebacate to (s)-3-hydroxybutyrylcarnitine

Numerator Metabolite

Structure of 3-hydroxysebacate
Metabolite Accession: GCST90199704
Name: 3-hydroxysebacate
Hmdb Id: HMDB0000350
Super Pathway: NA
Sub Pathway: NA
Inchikey: OQYZCCKCJQWHIE

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: rs12132488

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
-0.298
Position:
47389613
SE (Ratio):
0.023
Effect Allele:
T
Z-score (Ratio):
-12.810
Reference Allele:
C
-log10(P):
-84.824
MAF:
0.123
Beta (Num):
-0.246
Novel Locus:
No
SE (Num):
0.024
Beta (Den):
0.051
SE (Den):
0.022
No CNV overlap
rQTL cluster:
163
Reaction Distance:
NA
Closest Genes:
CYP4A11 CYP4X1 CYP4B1 CYP4Z1 EFCAB14

Region: rs56078223

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
-0.169
Position:
151898843
SE (Ratio):
0.017
Effect Allele:
G
Z-score (Ratio):
-10.094
Reference Allele:
T
-log10(P):
-53.488
MAF:
0.291
Beta (Num):
-0.108
Novel Locus:
Yes ✔️
SE (Num):
0.018
Beta (Den):
0.061
SE (Den):
0.016
No CNV overlap
rQTL cluster:
155
Reaction Distance:
NA
Closest Genes:
THEM4 S100A10 THEM5 C2CD4D RORC

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid omega-oxidation4[1]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, ketone body metabolism5[1], 6[2], 7[3], 8[4]

Ratio Explanation:

The ratio may reflect a shift in fatty acid metabolism, where omega-oxidation (producing 3-hydroxysebacate) is altered relative to beta-oxidation and ketogenesis.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Altered THEM4 activity may influence fatty acid metabolism, potentially contributing to metabolic dysregulation observed in diverticular disease, a condition associated with metabolic syndrome.1[1], 2[2], 3[3], 9[4], 10[5]

Phenotype Driver:

Gene-centric:THEM4

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