acetylcarnitine (c2) to Docosahexaenoate DHA; 22:6n3

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 docosahexaenoate (dha; 22:6n3)
Metabolite Accession: GCST90199651
Name: docosahexaenoate (dha; 22:6n3)
Hmdb Id: HMDB0002183
Super Pathway: NA
Sub Pathway: NA
Inchikey: MBMBGCFOFBJSGT

Associated Genomic Regions

Region: rs272849

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
5
Beta (Ratio):
0.164
Position:
131690241
SE (Ratio):
0.017
Effect Allele:
A
Z-score (Ratio):
9.772
Reference Allele:
G
-log10(P):
-50.264
MAF:
0.373
Beta (Num):
0.112
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.052
SE (Den):
0.015
No CNV overlap
rQTL cluster:
115
Reaction Distance:
13.0
Closest Genes:
SLC22A4 SLC22A5 C5orf56 P4HA2 PDLIM4

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism, carnitine shuttle.6[1], 7[2], 8[3], 9[4]

Denominator Metabolite Explanation:

Fatty acid biosynthesis, omega-3 fatty acid metabolism.10[1], 11[2], 12[3]

Ratio Explanation:

The ratio reflects cellular carnitine uptake by SLC22A5 for fatty acid oxidation relative to the availability of the essential omega-3 fatty acid DHA.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in SLC22A5 can alter carnitine transport, impacting acetylcarnitine levels and fatty acid oxidation. This may influence inflammatory and hematopoietic processes, leading to observed changes in monocyte, platelet, and white blood cell counts, which are phenotypes associated with the gene.13[1], 14[2], 15[3], 16[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