dihomo-linolenoylcarnitine (c20:3n3 or 6)* to stearoylcarnitine (c18)

Numerator Metabolite

Metabolite Accession: GCST90200139
Name: dihomo-linolenoylcarnitine (c20:3n3 or 6)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of stearoylcarnitine (c18)
Metabolite Accession: GCST90199743
Name: stearoylcarnitine (c18)
Hmdb Id: HMDB0000848
Super Pathway: NA
Sub Pathway: NA
Inchikey: FNPHNLNTJNMAEE

Associated Genomic Regions

Region: rs968567

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:
11
Beta (Ratio):
0.303
Position:
61595564
SE (Ratio):
0.022
Effect Allele:
T
Z-score (Ratio):
14.069
Reference Allele:
C
-log10(P):
-101.850
MAF:
0.179
Beta (Num):
0.237
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.067
SE (Den):
0.020
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Polyunsaturated fatty acid biosynthesis.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation.8[1], 9[2], 10[3]

Ratio Explanation:

The ratio reflects FADS1/FADS2 enzyme efficiency, comparing a downstream polyunsaturated product (C20:3) to a precursor saturated fatty acid (C18).1[1], 11[2], 12[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters polyunsaturated fatty acid metabolism, reflected by the dihomo-linolenoylcarnitine/stearoylcarnitine ratio. This dysregulation of pro- and anti-inflammatory lipid mediators likely contributes to the observed inflammatory and allergic phenotypes, including asthma and dermatitis, and affects circulating lipid and blood cell profiles.1[1], 13[2], 14[3], 15[4]

Phenotype Driver:

Gene-centric:FADS1

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