sphingomyelin (d18:2/24:1, d18:1/24:2)* to sphingomyelin (d18:2/24:2)*

Numerator Metabolite

Metabolite Accession: GCST90200040
Name: sphingomyelin (d18:2/24:1, d18:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of sphingomyelin (d18:2/24:2)*
Metabolite Accession: GCST90200124
Name: sphingomyelin (d18:2/24:2)*
Hmdb Id: HMDB0240644
Super Pathway: NA
Sub Pathway: NA
Inchikey: LAWJSGKLPKMOGG

Associated Genomic Regions

Region: rs174567

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):
-0.081
Position:
61593005
SE (Ratio):
0.009
Effect Allele:
G
Z-score (Ratio):
-8.721
Reference Allele:
A
-log10(P):
-40.432
MAF:
0.346
Beta (Num):
-0.076
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.006
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:

Sphingomyelin biosynthesis3[1], 4[2], 5[3], 6[4]

Denominator Metabolite Explanation:

Sphingomyelin biosynthesis3[1], 4[2], 5[3], 6[4]

Ratio Explanation:

The ratio reflects the activity of FADS enzymes, where a lower ratio suggests decreased desaturation of the 24:1 fatty acid chain to 24:2.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

FADS1/FADS2 gene variants are associated with altered lipid metabolism, influencing the risk for disorders of lipoprotein metabolism and cholelithiasis.7[1], 8[2], 9[3] This is reflected in the sphingomyelin fatty acyl chain composition.

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