1-palmitoyl-2-dihomo-linolenoyl-gpc (16:0/20:3n3 or 6)* to 1-stearoyl-2-arachidonoyl-gpc (18:0/20:4)

Numerator Metabolite

Metabolite Accession: GCST90200051
Name: 1-palmitoyl-2-dihomo-linolenoyl-gpc (16:0/20:3n3 or 6)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-stearoyl-2-arachidonoyl-gpc (18:0/20:4)
Metabolite Accession: GCST90200685
Name: 1-stearoyl-2-arachidonoyl-gpc (18:0/20:4)
Hmdb Id: HMDB0008048
Super Pathway: NA
Sub Pathway: NA
Inchikey: PSVRFUPOQYJOOZ

Associated Genomic Regions

Region: rs174528

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):
0.925
Position:
61543499
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
47.463
Reference Allele:
T
-log10(P):
-1130.469
MAF:
0.371
Beta (Num):
0.305
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.620
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
MYRF TMEM258 FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Phosphatidylcholine Biosynthesis

Denominator Metabolite Explanation:

Phosphatidylcholine Biosynthesis

Ratio Explanation:

The ratio of the numerator (containing 20:3n-6) to the denominator (containing 20:4n-6) reflects the enzymatic activity of FADS1, which converts 20:3n-6 to 20:4n-6.3[1], 4[2], 5[3]

Ratio Evidence:

canonical reaction catalyzed by the enzyme

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1/FADS2 alter polyunsaturated fatty acid metabolism, influencing the balance of pro-inflammatory and anti-inflammatory lipids.6[1], 2[2], 7[3] This dysregulation is linked to changes in lipid profiles and an increased risk for hypercholesterolemia and valvular heart disease.6[4], 8[5], 9[6]

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