sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)* to sphingomyelin (d18:2/21:0, d16:2/23:0)*

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

Metabolite Accession: GCST90200129
Name: sphingomyelin (d18:2/21:0, d16:2/23:0)*
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

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
11
Beta (Ratio):
0.268
Position:
61557826
SE (Ratio):
0.013
Effect Allele:
C
Z-score (Ratio):
20.191
Reference Allele:
T
-log10(P):
-207.074
MAF:
0.340
Beta (Num):
0.184
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.084
SE (Den):
0.013
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis

Denominator Metabolite Explanation:

Sphingolipid biosynthesis

Ratio Explanation:

The ratio reflects the activity of FADS1 and FADS2, which produce polyunsaturated fatty acids for the numerator, versus the incorporation of saturated fatty acids.3[1], 4[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetically determined FADS1/FADS2 activity alters sphingomyelin composition, influencing lipid metabolism and inflammation, which contributes to phenotypes like type 2 diabetes, cholelithiasis, and hypercholesterolemia.2[1], 5[2], 6[3], 7[4]

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