3-hydroxyhexanoylcarnitine (1) to 3-hydroxyoleoylcarnitine

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 3-hydroxyoleoylcarnitine
Metabolite Accession: GCST90200158
Name: 3-hydroxyoleoylcarnitine
Hmdb Id: HMDB0240761
Super Pathway: NA
Sub Pathway: NA
Inchikey: YBCVTTMMURGSEY

Associated Genomic Regions

Region: rs662138

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):
-0.149
Position:
160564476
SE (Ratio):
0.019
Effect Allele:
G
Z-score (Ratio):
-7.934
Reference Allele:
C
-log10(P):
-33.788
MAF:
0.175
Beta (Num):
-0.079
Novel Locus:
Yes ✔️
SE (Num):
0.020
Beta (Den):
0.070
SE (Den):
0.020
No CNV overlap
rQTL cluster:
97
Reaction Distance:
NA
Closest Genes:
SLC22A1 SLC22A2 IGF2R SLC22A3 MAS1

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation

Denominator Metabolite Explanation:

Fatty acid beta-oxidation

Ratio Explanation:

The ratio of medium-chain (C6-OH) to long-chain (C18:1-OH) 3-hydroxyacylcarnitines may reflect altered mitochondrial fatty acid oxidation efficiency, potentially influenced by SOD2-mediated oxidative stress.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants impacting SOD2 protein levels are associated with the acylcarnitine ratio, suggesting altered mitochondrial fatty acid oxidation due to changes in oxidative stress handling.3[1], 4[2], 5[3] This mitochondrial dysfunction is a known mechanism contributing to disorders of lipoprotein metabolism and hypercholesterolemia.6[4], 7[5], 8[6], 9[7]

Phenotype Driver:

Gene-centric:SOD2

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