sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)* to sphingomyelin (d18:1/17:0, d17:1/18:0, d19:1/16:0)

Numerator 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

Denominator Metabolite

Metabolite Accession: GCST90200047
Name: sphingomyelin (d18:1/17:0, d17:1/18:0, d19:1/16:0)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs174566

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):
0.123
Position:
61592362
SE (Ratio):
0.013
Effect Allele:
G
Z-score (Ratio):
9.132
Reference Allele:
A
-log10(P):
-44.146
MAF:
0.345
Beta (Num):
0.079
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
-0.044
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingomyelin biosynthesis4[1], 5[2]

Denominator Metabolite Explanation:

Sphingomyelin biosynthesis4[1], 5[2]

Ratio Explanation:

The ratio reflects the activity of FADS enzymes, with higher values indicating increased desaturation of fatty acid chains incorporated into sphingomyelins.6[1]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS gene variants alter fatty acid desaturation, affecting sphingomyelin composition.6[1] This dyslipidemia is associated with an increased risk of cholelithiasis and other metabolic disorders.7[2], 8[3]

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