acetylcarnitine (c2) to stearate (18:0)

Numerator Metabolite

Structure of acetylcarnitine (c2)
Metabolite Accession: GCST90199669
Name: acetylcarnitine (c2)
Hmdb Id: HMDB0000201
Super Pathway: NA
Sub Pathway: NA
Inchikey: RDHQFKQIGNGIED

Denominator Metabolite

Structure of stearate (18:0)
Metabolite Accession: GCST90200390
Name: stearate (18:0)
Hmdb Id: HMDB0000827
Super Pathway: NA
Sub Pathway: NA
Inchikey: QIQXTHQIDYTFRH

Associated Genomic Regions

Region: rs274546

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:
5
Beta (Ratio):
0.138
Position:
131699867
SE (Ratio):
0.015
Effect Allele:
A
Z-score (Ratio):
9.375
Reference Allele:
G
-log10(P):
-46.423
MAF:
0.373
Beta (Num):
0.112
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.026
SE (Den):
0.016
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A5 SLC22A4 C5orf56 P4HA2 PDLIM4

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism, carnitine shuttle

Denominator Metabolite Explanation:

Fatty acid biosynthesis/elongation

Ratio Explanation:

This ratio may reflect cellular carnitine uptake relative to fatty acid availability. SLC22A5 transports carnitine, which is required for fatty acid breakdown.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced SLC22A5 function can decrease acetylcarnitine levels, impairing fatty acid oxidation. This dysfunction may be linked to altered immune cell counts (monocytes, lymphocytes, neutrophils, eosinophils) and other hematological parameters, as carnitine metabolism is crucial for cellular energy and function.

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