dihomo-linolenoylcarnitine (c20:3n3 or 6)* to dihomo-linoleoylcarnitine (c20:2)*

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

Metabolite Accession: GCST90200144
Name: dihomo-linoleoylcarnitine (c20:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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):
0.246
Position:
61595564
SE (Ratio):
0.015
Effect Allele:
T
Z-score (Ratio):
15.898
Reference Allele:
C
-log10(P):
-129.375
MAF:
0.179
Beta (Num):
0.237
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.009
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:

Fatty acid metabolism

Denominator Metabolite Explanation:

Fatty acid metabolism

Ratio Explanation:

This ratio reflects the activity of the FADS2 desaturase enzyme which can convert the precursor of dihomo-linoleoylcarnitine (c20:2) to dihomo-linolenoylcarnitine (c20:3).3[1], 4[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Variations in FADS1/FADS2 activity alter the balance of pro- and anti-inflammatory fatty acids.5[1], 6[2] This dysregulation of inflammatory pathways can contribute to inflammatory skin conditions like seborrhoeic dermatitis, a phenotype linked to FADS genetic variants and altered fatty acid levels.1[3], 7[4], 5[5]

Phenotype Driver:

Gene-centric:FADS1/FADS2

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