(s)-3-hydroxybutyrylcarnitine to butyrylcarnitine (c4)

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 butyrylcarnitine (c4)
Metabolite Accession: GCST90200673
Name: butyrylcarnitine (c4)
Hmdb Id: HMDB0002013
Super Pathway: NA
Sub Pathway: NA
Inchikey: QWYFHHGCZUCMBN

Associated Genomic Regions

Region: rs12911035

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
15
Beta (Ratio):
-0.149
Position:
76606591
SE (Ratio):
0.019
Effect Allele:
T
Z-score (Ratio):
-7.901
Reference Allele:
C
-log10(P):
-33.521
MAF:
0.453
Beta (Num):
-0.071
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.078
SE (Den):
0.016
No CNV overlap
rQTL cluster:
37
Reaction Distance:
NA
Closest Genes:
ETFA ISL2 SCAPER C15orf27 NRG4

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid oxidation, Ketone body metabolism5[1], 6[2]

Denominator Metabolite Explanation:

Fatty acid oxidation7[1], 8[2], 6[3]

Ratio Explanation:

The ratio reflects the balance of intermediates in fatty acid beta-oxidation; an elevated ratio may indicate downstream enzymatic inefficiency, potentially involving ETFA.1[1], 5[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced ETFA function can impair fatty acid oxidation, altering lipid balance.9[1], 10[2] This metabolic disruption is reflected by the carnitine ratio and contributes to disorders of lipoprotein metabolism by causing an imbalance in the body's lipid processing and transport.11[3], 12[4], 13[5]

Phenotype Driver:

Gene-centric:ETFA

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