3-hydroxyhexanoylcarnitine (1) to (s)-3-hydroxybutyrylcarnitine

Numerator Metabolite

Structure of 3-hydroxyhexanoylcarnitine (1)
Metabolite Accession: GCST90200228
Name: 3-hydroxyhexanoylcarnitine (1)
Hmdb Id: HMDB0013131
Super Pathway: NA
Sub Pathway: NA
Inchikey: VYEONLJQPYRKAN

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: rs12208357

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:
6
Beta (Ratio):
-0.146
Position:
160543148
SE (Ratio):
0.015
Effect Allele:
T
Z-score (Ratio):
-9.577
Reference Allele:
C
-log10(P):
-48.351
MAF:
0.070
Beta (Num):
-0.054
Novel Locus:
Yes ✔️
SE (Num):
0.029
Beta (Den):
0.092
SE (Den):
0.028
No CNV overlap
rQTL cluster:
98
Reaction Distance:
NA
Closest Genes:
SLC22A1 IGF2R SLC22A2 MAS1 SLC22A3

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid β-oxidation

Denominator Metabolite Explanation:

Fatty acid β-oxidation, Ketogenesis

Ratio Explanation:

This ratio may reflect the relative activity of different steps in mitochondrial β-oxidation, influenced by SLC22A1-mediated transport of acylcarnitine intermediates.

Ratio Evidence:

2[1], 4[2]metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced function of the SLC22A1 transporter could alter the balance of acylcarnitine species like 3-hydroxyhexanoylcarnitine and (s)-3-hydroxybutyrylcarnitine, which are intermediates in fatty acid oxidation. This disruption in lipid metabolism may contribute to the observed dyslipidemias, including altered triglyceride and cholesterol levels.

Phenotype Driver:

2[1], 5[2], 6[3]Gene-centric:SLC22A1

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