cis 3,4-methyleneheptanoate to (s)-3-hydroxybutyrylcarnitine

Numerator Metabolite

Metabolite Accession: GCST90200248
Name: cis-3,4-methyleneheptanoate
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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: rs71583465

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:
5
Beta (Ratio):
-0.119
Position:
131594628
SE (Ratio):
0.016
Effect Allele:
G
Z-score (Ratio):
-7.487
Reference Allele:
C
-log10(P):
-30.284
MAF:
0.344
Beta (Num):
-0.050
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
0.069
SE (Den):
0.015
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
PDLIM4 P4HA2 SLC22A4 SLC22A5 C5orf56

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism.6[1]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, Ketone body metabolism.7[1], 8[2]

Ratio Explanation:

The ratio reflects altered carnitine-dependent metabolism. Reduced SLC22A5 function impairs (s)-3-hydroxybutyrylcarnitine formation, while cis-3,4-methyleneheptanoate levels may change due to related fatty acid pathway shifts.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced SLC22A5 transporter function impairs fatty acid oxidation, altering carnitine conjugate levels and leading to dyslipidemia, characterized by changes in cholesterol and triglycerides.3[1], 4[2], 5[3]

Phenotype Driver:

Gene-centric:SLC22A5

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