3-hydroxyhexanoylcarnitine (1) to glutamine conjugate of c6h10o2 (2)*

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

Metabolite Accession: GCST90200173
Name: glutamine conjugate of c6h10o2 (2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs272893

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
0.093
Position:
131663062
SE (Ratio):
0.010
Effect Allele:
T
Z-score (Ratio):
8.987
Reference Allele:
C
-log10(P):
-42.820
MAF:
0.373
Beta (Num):
0.043
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
-0.049
SE (Den):
0.015
No CNV overlap
rQTL cluster:
Reaction Distance:
NA

Region: rs662138

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
-0.119
Position:
160564476
SE (Ratio):
0.013
Effect Allele:
G
Z-score (Ratio):
-9.055
Reference Allele:
C
-log10(P):
-43.434
MAF:
0.175
Beta (Num):
-0.079
Novel Locus:
Yes ✔️
SE (Num):
0.020
Beta (Den):
0.040
SE (Den):
0.020
No CNV overlap
rQTL cluster:
Reaction Distance:
NA
Closest Genes:

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation

Denominator Metabolite Explanation:

Xenobiotic metabolism, Amino acid conjugation.4[1]

Ratio Explanation:

The ratio may reflect a shift in C6 fatty acid metabolism from beta-oxidation to detoxification pathways, influenced by carnitine transport efficiency via SLC22A5.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Variants in SLC22A5 alter carnitine transport, impairing fatty acid oxidation, a key energy source.2[1], 5[2] This metabolic dysregulation, indicated by the acylcarnitine ratio, likely contributes to disorders of lipoprotein metabolism and hypercholesterolemia by affecting cellular lipid handling and energy balance.1[3], 6[4]

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