sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)* to 1,2-dipalmitoyl-gpc (16:0/16:0)

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 1,2-dipalmitoyl-gpc (16:0/16:0)
Metabolite Accession: GCST90199660
Name: 1,2-dipalmitoyl-gpc (16:0/16:0)
Hmdb Id: HMDB0000564
Super Pathway: NA
Sub Pathway: NA
Inchikey: KILNVBDSWZSGLL

Associated Genomic Regions

Region: rs174547

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):
0.402
Position:
61570783
SE (Ratio):
0.021
Effect Allele:
C
Z-score (Ratio):
18.997
Reference Allele:
T
-log10(P):
-183.623
MAF:
0.339
Beta (Num):
0.186
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.215
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:

Sphingolipid biosynthesis/metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Glycerophospholipid biosynthesis.7[1], 8[2], 9[3]

Ratio Explanation:

The ratio compares sphingomyelins with PUFAs, whose synthesis depends on FADS1/FADS2 activity, to a phosphatidylcholine with saturated fatty acids, reflecting desaturase enzyme efficiency.3[1], 10[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS gene variants alter FADS1/FADS2 desaturase activity, impacting the balance of pro-inflammatory and pro-resolving lipid mediators derived from PUFAs.3[1], 11[2], 12[3] This dysregulation of inflammation and lipid profiles contributes to the diverse associated cardiometabolic and inflammatory phenotypes like T2D, IBD, and hypercholesterolemia.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