sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)* to linoleoyl-arachidonoyl-glycerol (18:2/20:4) [1]*

Numerator Metabolite

Metabolite Accession: GCST90199995
Name: sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of linoleoyl-arachidonoyl-glycerol (18:2/20:4) [1]*
Metabolite Accession: GCST90200103
Name: linoleoyl-arachidonoyl-glycerol (18:2/20:4) [1]*
Hmdb Id: HMDB0007257
Super Pathway: NA
Sub Pathway: NA
Inchikey: KRECEGQUDDMNAQ

Associated Genomic Regions

Region: rs174564

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):
0.497
Position:
61588305
SE (Ratio):
0.023
Effect Allele:
G
Z-score (Ratio):
22.094
Reference Allele:
A
-log10(P):
-247.386
MAF:
0.343
Beta (Num):
0.181
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.316
SE (Den):
0.017
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Glycerolipid metabolism, Fatty acid biosynthesis.8[1], 9[2]

Ratio Explanation:

This ratio reflects the activity of FADS enzymes.3[1] Genetic variants altering FADS1/FADS2 function affect the balance of specific fatty acids available for incorporation into complex lipids.2[2], 3[3], 10[4]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS1/FADS2 variants influence circulating lipid levels, including cholesterol and triglycerides, by altering polyunsaturated fatty acid metabolism.11[1], 12[2], 4[3] This dysregulation of lipid metabolism is a primary mechanism linking these genetic factors to phenotypes like pure hypercholesterolaemia and other lipoprotein metabolism disorders.13[4], 14[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