1-palmitoyl-2-docosahexaenoyl-gpc (16:0/22:6) to 1,2-dilinoleoyl-gpe (18:2/18:2)*

Numerator Metabolite

Structure of 1-palmitoyl-2-docosahexaenoyl-gpc (16:0/22:6)
Metabolite Accession: GCST90200043
Name: 1-palmitoyl-2-docosahexaenoyl-gpc (16:0/22:6)
Hmdb Id: HMDB0007991
Super Pathway: NA
Sub Pathway: NA
Inchikey: IESVDEZGAHUQJU

Denominator Metabolite

Structure of 1,2-dilinoleoyl-gpe (18:2/18:2)*
Metabolite Accession: GCST90200068
Name: 1,2-dilinoleoyl-gpe (18:2/18:2)*
Hmdb Id: HMDB0009093
Super Pathway: NA
Sub Pathway: NA
Inchikey: SSCDRSKJTAQNNB

Associated Genomic Regions

Region: rs174547

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:
11
Beta (Ratio):
-0.397
Position:
61570783
SE (Ratio):
0.025
Effect Allele:
C
Z-score (Ratio):
-15.955
Reference Allele:
T
-log10(P):
-130.283
MAF:
0.338
Beta (Num):
-0.166
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.231
SE (Den):
0.018
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

PUFA biosynthesis, Glycerophospholipid metabolism.3[1], 4[2]

Denominator Metabolite Explanation:

PUFA biosynthesis, Glycerophospholipid metabolism.5[1], 6[2]

Ratio Explanation:

The ratio reflects FADS1/FADS2 enzymatic efficiency in converting precursor fatty acids (18:2) into long-chain polyunsaturated fatty acids like docosahexaenoic acid (22:6).1[1], 7[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters polyunsaturated fatty acid (PUFA) metabolism, reflected by the ratio. This dysregulation of fatty acid profiles likely impacts lipoprotein metabolism, contributing to the development of pure hypercholesterolemia and related lipid disorders.8[1], 9[2], 10[3], 11[4]

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