acetylcarnitine (c2) to 3-hydroxymyristate

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 3-hydroxymyristate
Metabolite Accession: GCST90199674
Name: 3-hydroxymyristate
Hmdb Id: HMDB0061656,HMDB0010731
Super Pathway: NA
Sub Pathway: NA
Inchikey: ATRNZOYKSNPPBF

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):
0.135
Position:
131690241
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
9.672
Reference Allele:
G
-log10(P):
-49.276
MAF:
0.373
Beta (Num):
0.112
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.022
SE (Den):
0.015
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A4 SLC22A5 C5orf56 P4HA2 PDLIM4

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism, energy production.5[1], 6[2], 7[3], 8[4]

Denominator Metabolite Explanation:

Fatty acid biosynthesis, Lipid A biosynthesis.9[1], 10[2], 11[3]

Ratio Explanation:

An elevated ratio of acetylcarnitine to 3-hydroxymyristate may indicate altered carnitine metabolism and fatty acid oxidation, potentially influenced by SLC22A5 transporter function.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced SLC22A5 function can impair carnitine uptake, affecting fatty acid oxidation and leading to altered levels of related metabolites.12[1] This disruption in energy homeostasis and lipid metabolism may contribute to variations in hematological traits such as neutrophil, platelet, and white blood cell counts.13[2], 14[3], 15[4], 16[5]

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