1-palmitoyl-2-docosahexaenoyl-gpc (16:0/22:6) to dihomo-linolenoylcarnitine (c20:3n3 or 6)*

Numerator Metabolite

Structure of 1-palmitoyl-2-docosahexaenoyl-gpc (16:0/22:6)
Metabolite Accession: GCST90200043
Name: 1-palmitoyl-2-docosahexaenoyl-gpc (16:0/22:6)
Hmdb Id: HMDB0007991
Super Pathway: NA
Sub Pathway: NA
Inchikey: IESVDEZGAHUQJU

Denominator Metabolite

Metabolite Accession: GCST90200139
Name: dihomo-linolenoylcarnitine (c20:3n3 or 6)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs174549

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):
-0.321
Position:
61571382
SE (Ratio):
0.024
Effect Allele:
A
Z-score (Ratio):
-13.655
Reference Allele:
G
-log10(P):
-96.076
MAF:
0.303
Beta (Num):
-0.167
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.154
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Glycerophospholipid metabolism, Phosphatidylcholine biosynthesis3[1], 4[2]

Denominator Metabolite Explanation:

Fatty acid metabolism, Beta-oxidation5[1]

Ratio Explanation:

The ratio of a downstream phospholipid product (PC containing DHA 22:6) to an upstream acylcarnitine precursor (C20:3) reflects FADS1/FADS2 enzyme activity.1[1], 6[2], 7[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

FADS1 gene variants influence the efficiency of PUFA synthesis, altering the balance of pro- and anti-inflammatory lipids.8[1], 9[2] This dysregulation is linked to phenotypes like hypercholesterolemia, cholelithiasis, and asthma, where inflammation and lipid metabolism are key etiological factors.10[3], 11[4], 12[5]

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