acetylcarnitine (c2) to margarate (17:0)

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 margarate (17:0)
Metabolite Accession: GCST90200459
Name: margarate (17:0)
Hmdb Id: HMDB0002259
Super Pathway: NA
Sub Pathway: NA
Inchikey: KEMQGTRYUADPNZ

Associated Genomic Regions

Region: rs272849

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):
0.154
Position:
131690241
SE (Ratio):
0.015
Effect Allele:
A
Z-score (Ratio):
10.534
Reference Allele:
G
-log10(P):
-58.067
MAF:
0.373
Beta (Num):
0.112
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.042
SE (Den):
0.016
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A4 SLC22A5 C5orf56 P4HA2 PDLIM4

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid oxidation, carnitine shuttle.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Fatty acid metabolism.7[1], 8[2]

Ratio Explanation:

The ratio reflects SLC22A5 transporter activity; reduced function decreases acetylcarnitine levels, while margarate, an exogenous fatty acid, remains unaffected, thus altering the ratio.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced SLC22A5 function, indicated by a lower ratio, is linked to altered immune cell function and inflammation.9[1], 10[2] The associated phenotypes, including monocyte, lymphocyte, and neutrophil counts, are all measures of immune status, suggesting the gene's role in immunity drives these associations.

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