1-palmitoleoyl-2-linolenoyl-gpc (16:1/18:3)* to stearidonate (18:4n3)

Numerator Metabolite

Structure of 1-palmitoleoyl-2-linolenoyl-gpc (16:1/18:3)*
Metabolite Accession: GCST90200102
Name: 1-palmitoleoyl-2-linolenoyl-gpc (16:1/18:3)*
Hmdb Id: HMDB0008008
Super Pathway: NA
Sub Pathway: NA
Inchikey: MMUCLZZSNHBNFL

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):
0.391
Position:
61569830
SE (Ratio):
0.019
Effect Allele:
T
Z-score (Ratio):
20.402
Reference Allele:
C
-log10(P):
-211.369
MAF:
0.346
Beta (Num):
0.270
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.4[1]

Denominator Metabolite Explanation:

Alpha-Linolenic Acid Metabolism.5[1], 6[2]

Ratio Explanation:

The ratio of 1-palmitoleoyl-2-linolenoyl-GPC (containing the FADS2 substrate 18:3) to stearidonate (18:4n3, the product) reflects FADS2 enzyme activity.7[1], 3[2]

Ratio Evidence:

canonical reaction catalyzed by the enzyme

Gene Ratio Phenotype Relationship:

Genetic variants in the FADS gene cluster, particularly FADS2, alter fatty acid desaturation efficiency.8[1], 9[2] This impacts levels of polyunsaturated fatty acids, which influences lipid metabolism and inflammation, contributing to the risk of cholelithiasis (gallstones), dyslipidemia, and type 2 diabetes.10[3], 11[4], 12[5]

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