1-palmitoyl-2-linoleoyl-gpc (16:0/18:2) to 1-stearoyl-2-docosahexaenoyl-gpc (18:0/22:6)

Numerator Metabolite

Structure of 1-palmitoyl-2-linoleoyl-gpc (16:0/18:2)
Metabolite Accession: GCST90200330
Name: 1-palmitoyl-2-linoleoyl-gpc (16:0/18:2)
Hmdb Id: HMDB0007973
Super Pathway: NA
Sub Pathway: NA
Inchikey: JLPULHDHAOZNQI

Denominator Metabolite

Structure of 1-stearoyl-2-docosahexaenoyl-gpc (18:0/22:6)
Metabolite Accession: GCST90200046
Name: 1-stearoyl-2-docosahexaenoyl-gpc (18:0/22:6)
Hmdb Id: HMDB0008057
Super Pathway: NA
Sub Pathway: NA
Inchikey: FAUYAENFVCNTAL

Associated Genomic Regions

Region: rs174546

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):
0.524
Position:
61569830
SE (Ratio):
0.023
Effect Allele:
T
Z-score (Ratio):
22.683
Reference Allele:
C
-log10(P):
-260.613
MAF:
0.341
Beta (Num):
0.276
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.247
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Glycerophospholipid metabolism, Linoleic acid metabolism.3[1]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism, Alpha-linolenic acid metabolism.4[1], 5[2]

Ratio Explanation:

This ratio reflects FADS enzyme activity, comparing a phosphatidylcholine with a precursor fatty acid (linoleic acid) to one with a downstream product (docosahexaenoic acid).6[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 is linked to altered blood lipid profiles and an increased risk for pure hypercholesterolemia, a finding supported by Mendelian Randomization analysis.9[1], 10[2], 11[3]

Phenotype Driver:

Gene-centric: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