hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to stearoyl sphingomyelin (d18:1/18:0)

Numerator Metabolite

Metabolite Accession: GCST90200243
Name: hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))**
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of stearoyl sphingomyelin (d18:1/18:0)
Metabolite Accession: GCST90200335
Name: stearoyl sphingomyelin (d18:1/18:0)
Hmdb Id: HMDB0001348
Super Pathway: NA
Sub Pathway: NA
Inchikey: LKQLRGMMMAHREN

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):
0.357
Position:
61593005
SE (Ratio):
0.019
Effect Allele:
G
Z-score (Ratio):
19.030
Reference Allele:
A
-log10(P):
-184.247
MAF:
0.346
Beta (Num):
0.278
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.080
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:

Sphingolipid metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2], 6[3]

Ratio Explanation:

The ratio reflects the balance between two sphingomyelin species, influenced by FADS activity which alters the pool of fatty acid precursors for synthesis.7[1], 8[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

FADS gene variants alter desaturase activity, impacting the fatty acid pool used for sphingomyelin synthesis.7[1], 8[2] This dysregulates lipid metabolism, contributing to phenotypes like cholelithiasis and hypercholesterolemia, which are associated with FADS polymorphisms.9[3], 10[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