1-linoleoyl-2-linolenoyl-gpc (18:2/18:3)* to stearidonate (18:4n3)

Numerator 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

Denominator Metabolite

Structure of stearidonate (18:4n3)
Metabolite Accession: GCST90199721
Name: stearidonate (18:4n3)
Hmdb Id: HMDB0006547
Super Pathway: NA
Sub Pathway: NA
Inchikey: JIWBIWFOSCKQMA

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):
0.358
Position:
61569830
SE (Ratio):
0.021
Effect Allele:
T
Z-score (Ratio):
16.666
Reference Allele:
C
-log10(P):
-141.921
MAF:
0.340
Beta (Num):
0.237
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.121
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, fatty acid metabolism.3[1], 4[2]

Denominator Metabolite Explanation:

Fatty acid metabolism, omega-3 fatty acid metabolism.5[1], 6[2]

Ratio Explanation:

The ratio likely reflects FADS2 (delta-6 desaturase) activity, where alpha-linolenic acid (a component of the numerator) is converted to stearidonic acid (denominator).7[1], 8[2]

Ratio Evidence:

canonical reaction catalyzed by the enzyme

Gene Ratio Phenotype Relationship:

Genetic variation in the FADS gene cluster alters polyunsaturated fatty acid (PUFA) metabolism, which is reflected in the ratio.1[1] This dysregulation influences inflammatory and metabolic pathways, plausibly contributing to the associated phenotypes like cholelithiasis, type 2 diabetes, and inflammatory bowel disease.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