1-palmitoyl-2-linoleoyl-gpe (16:0/18:2) to 1-palmitoyl-2-arachidonoyl-gpi (16:0/20:4)*

Numerator Metabolite

Structure of 1-palmitoyl-2-linoleoyl-gpe (16:0/18:2)
Metabolite Accession: GCST90199844
Name: 1-palmitoyl-2-linoleoyl-gpe (16:0/18:2)
Hmdb Id: HMDB0005322
Super Pathway: NA
Sub Pathway: NA
Inchikey: HBZNVZIRJWODIB

Denominator Metabolite

Structure of 1-palmitoyl-2-arachidonoyl-gpi (16:0/20:4)*
Metabolite Accession: GCST90200062
Name: 1-palmitoyl-2-arachidonoyl-gpi (16:0/20:4)*
Hmdb Id: HMDB0009789
Super Pathway: NA
Sub Pathway: NA
Inchikey: KIQYUSYSJTUGFZ

Associated Genomic Regions

Region: rs174564

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):
0.573
Position:
61588305
SE (Ratio):
0.018
Effect Allele:
G
Z-score (Ratio):
31.717
Reference Allele:
A
-log10(P):
-506.662
MAF:
0.344
Beta (Num):
0.424
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.149
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Glycerophospholipid metabolism, Linoleic acid metabolism.4[1]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism, Arachidonic acid metabolism.5[1], 6[2]

Ratio Explanation:

This ratio reflects FADS enzyme activity, comparing a phospholipid containing the precursor fatty acid linoleic acid (18:2) to one with the product arachidonic acid (20:4).1[1], 7[2], 8[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 ratio. This dysregulation of lipid profiles is strongly associated with an increased risk for pure hypercholesterolemia and cholelithiasis, as validated by Mendelian randomization and genome-wide association studies.2[1], 9[2], 10[3], 11[4], 12[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