1-(1-enyl-stearoyl)-gpe (p-18:0)* to 1-linoleoyl-2-linolenoyl-gpc (18:2/18:3)*

Numerator Metabolite

Metabolite Accession: GCST90199910
Name: 1-(1-enyl-stearoyl)-gpe (p-18:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-linoleoyl-2-linolenoyl-gpc (18:2/18:3)*
Metabolite Accession: GCST90200095
Name: 1-linoleoyl-2-linolenoyl-gpc (18:2/18:3)*
Hmdb Id: HMDB0008141
Super Pathway: NA
Sub Pathway: NA
Inchikey: HZGAVPNEGHQJID

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):
-0.346
Position:
61557803
SE (Ratio):
0.020
Effect Allele:
C
Z-score (Ratio):
-17.055
Reference Allele:
T
-log10(P):
-148.502
MAF:
0.346
Beta (Num):
-0.115
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.232
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Plasmalogen biosynthesis3[1], 4[2]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism, Fatty acid desaturation5[1], 6[2]

Ratio Explanation:

The ratio reflects FADS1/FADS2 enzymatic activity; lower activity results in higher levels of linoleic and linolenic acid-containing phospholipids (denominator) relative to plasmalogens (numerator).

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, influencing the risk for cholelithiasis and hypercholesterolemia.7[1], 8[2], 9[3] This metabolic shift is reflected by the ratio and is associated with inflammatory bowel disease, where TMEM258 also plays a role in controlling ER stress.10[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