sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)* to sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)*

Numerator Metabolite

Metabolite Accession: GCST90200033
Name: sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90200013
Name: sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs174560

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):
-0.156
Position:
61581764
SE (Ratio):
0.013
Effect Allele:
C
Z-score (Ratio):
-12.313
Reference Allele:
T
-log10(P):
-78.546
MAF:
0.308
Beta (Num):
-0.084
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.072
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.3[1], 4[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism.3[1], 4[2]

Ratio Explanation:

This ratio likely reflects FADS desaturase activity, comparing sphingomyelins with less-desaturated fatty acids (numerator) to those with more highly desaturated fatty acids (denominator).4[1], 5[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters fatty acid desaturation, which is reflected in the sphingomyelin ratio.4[1], 5[2] This dysregulates lipid metabolism and inflammatory pathways, plausibly contributing to the observed cardiometabolic (hypercholesterolaemia, cholelithiasis) and inflammatory (asthma, sinusitis) phenotypes.6[3], 7[4], 8[5], 9[6], 10[7]

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