1-palmitoyl-2-dihomo-linolenoyl-gpc (16:0/20:3n3 or 6)* to 1-(1-enyl-palmitoyl)-2-arachidonoyl-gpc (p-16:0/20:4)*

Numerator Metabolite

Metabolite Accession: GCST90200051
Name: 1-palmitoyl-2-dihomo-linolenoyl-gpc (16:0/20:3n3 or 6)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-(1-enyl-palmitoyl)-2-arachidonoyl-gpc (p-16:0/20:4)*
Metabolite Accession: GCST90200052
Name: 1-(1-enyl-palmitoyl)-2-arachidonoyl-gpc (p-16:0/20:4)*
Hmdb Id: HMDB0011220
Super Pathway: NA
Sub Pathway: NA
Inchikey: IOYKZPNDXIIXLN

Associated Genomic Regions

Region: rs102275

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):
0.800
Position:
61557803
SE (Ratio):
0.022
Effect Allele:
C
Z-score (Ratio):
36.029
Reference Allele:
T
-log10(P):
-652.867
MAF:
0.347
Beta (Num):
0.324
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.476
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

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

Ratio Explanation:

The ratio reflects FADS1 (delta-5 desaturase) enzymatic activity; lower FADS1 function results in accumulation of the substrate (dihomo-linolenoyl-GPC) relative to the product (arachidonoyl-GPC).1[1], 2[2]

Ratio Evidence:

canonical reaction catalyzed by the enzyme

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1 alter its desaturase efficiency, which changes the ratio of omega-6 fatty acids like arachidonic acid.1[1], 2[2] This imbalance impacts lipid profiles and inflammatory responses, contributing to phenotypes like pure hypercholesterolemia, cholelithiasis, and inflammatory bowel disease.7[3], 8[4], 9[5]

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