(r)-3-hydroxybutyrylcarnitine to (s)-3-hydroxybutyrylcarnitine

Numerator Metabolite

Structure of (r)-3-hydroxybutyrylcarnitine
Metabolite Accession: GCST90199930
Name: (r)-3-hydroxybutyrylcarnitine
Hmdb Id: HMDB0013127
Super Pathway: NA
Sub Pathway: NA
Inchikey: UEFRDQSMQXDWTO

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: rs2275378

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):
-0.172
Position:
76198436
SE (Ratio):
0.014
Effect Allele:
C
Z-score (Ratio):
-12.538
Reference Allele:
T
-log10(P):
-81.358
MAF:
0.337
Beta (Num):
-0.021
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.151
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:

Fatty acid metabolism, ketogenesis.5[1]

Denominator Metabolite Explanation:

Fatty acid metabolism, ketogenesis.5[1]

Ratio Explanation:

The ratio of (r)-3-hydroxybutyrylcarnitine to (s)-3-hydroxybutyrylcarnitine may reflect alterations in fatty acid oxidation, potentially influenced by ACADM enzymatic activity.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced ACADM function can impair the breakdown of medium-chain fatty acids, leading to an altered ratio of 3-hydroxybutyrylcarnitine isomers and potentially contributing to metabolic disorders.6[1]

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