sphingomyelin (d18:1/18:1, d18:2/18:0) to 1-linoleoyl-gpc (18:2)

Numerator Metabolite

Structure of sphingomyelin (d18:1/18:1, d18:2/18:0)
Metabolite Accession: GCST90199878
Name: sphingomyelin (d18:1/18:1, d18:2/18:0)
Hmdb Id: HMDB0012101
Super Pathway: NA
Sub Pathway: NA
Inchikey: NBEADXWAAWCCDG

Denominator Metabolite

Structure of 1-linoleoyl-gpc (18:2)
Metabolite Accession: GCST90199742
Name: 1-linoleoyl-gpc (18:2)
Hmdb Id: HMDB0010386
Super Pathway: NA
Sub Pathway: NA
Inchikey: SPJFYYJXNPEZDW

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):
-0.236
Position:
61569830
SE (Ratio):
0.022
Effect Allele:
T
Z-score (Ratio):
-10.520
Reference Allele:
C
-log10(P):
-57.922
MAF:
0.339
Beta (Num):
-0.108
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.129
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 metabolism, ceramide synthesis.4[1], 5[2]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism, Lands cycle.6[1], 7[2]

Ratio Explanation:

This ratio may reflect FADS-mediated desaturation of fatty acids like linoleic acid (18:2) and their subsequent incorporation into either sphingomyelin or lysophosphatidylcholine structures.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters polyunsaturated fatty acid metabolism, reflected by the lipid ratio. This dysregulation of lipid composition and inflammatory precursors contributes to phenotypes like hypercholesterolaemia, cholelithiasis, and inflammatory bowel disease.8[1], 3[2], 9[3]

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