sphingomyelin (d18:1/17:0, d17:1/18:0, d19:1/16:0) to myristoyl dihydrosphingomyelin (d18:0/14:0)*

Numerator 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

Denominator Metabolite

Structure of myristoyl dihydrosphingomyelin (d18:0/14:0)*
Metabolite Accession: GCST90200049
Name: myristoyl dihydrosphingomyelin (d18:0/14:0)*
Hmdb Id: HMDB0012085
Super Pathway: NA
Sub Pathway: NA
Inchikey: MJAFYELZQYPMQG

Associated Genomic Regions

Region: rs17101394

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:
14
Beta (Ratio):
0.221
Position:
64232386
SE (Ratio):
0.020
Effect Allele:
A
Z-score (Ratio):
10.943
Reference Allele:
G
-log10(P):
-62.503
MAF:
0.164
Beta (Num):
0.187
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.034
SE (Den):
0.020
No CNV overlap
rQTL cluster:
47
Reaction Distance:
NA
Closest Genes:
SGPP1 SYNE2 WDR89 PPP2R5E ESR2

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

Sphingolipid metabolism.7[1], 8[2], 9[3]

Ratio Explanation:

The ratio of sphingomyelin to its precursor, dihydrosphingomyelin, reflects the rate of ceramide desaturation, a key step in sphingolipid biosynthesis modulated by SGPP1 activity.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered SGPP1 function disrupts sphingolipid homeostasis, which is linked to triglyceride metabolism and insulin resistance. This dysregulation, reflected by the sphingolipid ratio, may contribute to the observed phenotypes of elevated triglycerides and HbA1c, key markers for metabolic syndrome.10[1], 11[2], 12[3], 13[4]

Phenotype Driver:

Gene-centric:SGPP1

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