carnitine C18:2 to dihomo-linolenoylcarnitine (c20:3n3 or 6)*

Numerator Metabolite

Structure of linoleoylcarnitine (c18:2)*
Metabolite Accession: GCST90199916
Name: linoleoylcarnitine (c18:2)*
Hmdb Id: HMDB0006469
Super Pathway: NA
Sub Pathway: NA
Inchikey: MJLXQSQYKZWZCB

Denominator Metabolite

Metabolite Accession: GCST90200139
Name: dihomo-linolenoylcarnitine (c20:3n3 or 6)*
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):
-0.295
Position:
61595564
SE (Ratio):
0.016
Effect Allele:
T
Z-score (Ratio):
-18.433
Reference Allele:
C
-log10(P):
-173.037
MAF:
0.179
Beta (Num):
-0.059
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.237
SE (Den):
0.020
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

Region: rs2229738

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):
-0.247
Position:
68562328
SE (Ratio):
0.024
Effect Allele:
T
Z-score (Ratio):
-10.345
Reference Allele:
C
-log10(P):
-56.086
MAF:
0.070
Beta (Num):
-0.030
Novel Locus:
No
SE (Num):
0.029
Beta (Den):
0.217
SE (Den):
0.029
No CNV overlap
rQTL cluster:
57
Reaction Distance:
NA
Closest Genes:
CPT1A MTL5 MRPL21 GAL IGHMBP2

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid transport and beta-oxidation.10[1], 11[2], 12[3], 13[4]

Denominator Metabolite Explanation:

Fatty acid biosynthesis and metabolism.14[1], 15[2], 16[3], 17[4], 18[5], 19[6]

Ratio Explanation:

The ratio of carnitine C18:2 to dihomo-linolenoylcarnitine reflects FADS desaturase activity, where a higher ratio suggests reduced conversion of linoleic acid to downstream fatty acids.20[1], 21[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1/FADS2 alter polyunsaturated fatty acid metabolism, which can influence inflammatory pathways and skin barrier integrity, thus contributing to inflammatory skin conditions like seborrhoeic and infective dermatitis.7[1], 20[2], 22[3], 23[4], 24[5], 25[6], 26[7], 27[8], 28[9], 29[10]

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