1,2-dilinoleoyl-gpc (18:2/18:2) to 1-arachidonoyl-gpe (20:4n6)*

Numerator Metabolite

Structure of 1,2-dilinoleoyl-gpc (18:2/18:2)
Metabolite Accession: GCST90200030
Name: 1,2-dilinoleoyl-gpc (18:2/18:2)
Hmdb Id: HMDB0008138
Super Pathway: NA
Sub Pathway: NA
Inchikey: FVXDQWZBHIXIEJ

Denominator Metabolite

Structure of 1-arachidonoyl-gpe (20:4n6)*
Metabolite Accession: GCST90199791
Name: 1-arachidonoyl-gpe (20:4n6)*
Hmdb Id: HMDB0011517
Super Pathway: NA
Sub Pathway: NA
Inchikey: ROPRRXYVXLDXQO

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):
0.661
Position:
61557803
SE (Ratio):
0.022
Effect Allele:
C
Z-score (Ratio):
30.640
Reference Allele:
T
-log10(P):
-473.045
MAF:
0.347
Beta (Num):
0.288
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.372
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:

Phosphatidylcholine biosynthesis.4[1]

Denominator Metabolite Explanation:

Phosphatidylethanolamine biosynthesis, Fatty acid biosynthesis.5[1], 6[2]

Ratio Explanation:

The ratio reflects fatty acid desaturase (FADS1/FADS2) activity by comparing a phospholipid with linoleic acid (18:2) to one with arachidonic acid (20:4).7[1], 3[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1 alters its desaturase activity, impacting the balance of polyunsaturated fatty acids reflected in the ratio. This dysregulation of lipid metabolism is linked to variations in blood cholesterol levels and risk for pure hypercholesterolaemia.1[1], 8[2], 9[3]

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