sphingomyelin (d18:2/14:0, d18:1/14:1)* to sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)*

Numerator Metabolite

Metabolite Accession: GCST90199975
Name: sphingomyelin (d18:2/14:0, d18:1/14:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator 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

Associated Genomic Regions

Region: rs102274

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):
-0.272
Position:
61557826
SE (Ratio):
0.016
Effect Allele:
C
Z-score (Ratio):
-17.021
Reference Allele:
T
-log10(P):
-147.924
MAF:
0.340
Beta (Num):
-0.088
Novel Locus:
No
SE (Num):
0.013
Beta (Den):
0.184
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism5[1]

Denominator Metabolite Explanation:

Sphingolipid metabolism5[1]

Ratio Explanation:

The ratio reflects the relative activity of fatty acid desaturase 1 (FADS1) in sphingomyelin biosynthesis, where higher FADS1 activity favors the numerator.5[1], 6[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered FADS1 activity, reflected in the sphingomyelin ratio, influences fatty acid and cholesterol metabolism, contributing to phenotypes like pure hypercholesterolaemia, type 2 diabetes, and valvular heart disease.7[1], 8[2], 9[3], 10[4], 4[5]

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