sphingomyelin (d17:1/16:0, d18:1/15:0, d16:1/17:0)* to myristoyl dihydrosphingomyelin (d18:0/14:0)*

Numerator Metabolite

Structure of sphingomyelin (d17:1/16:0, d18:1/15:0, d16:1/17:0)*
Metabolite Accession: GCST90200017
Name: sphingomyelin (d17:1/16:0, d18:1/15:0, d16:1/17:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: LQINJRUGTUOHGS

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):
0.369
Position:
64232386
SE (Ratio):
0.018
Effect Allele:
A
Z-score (Ratio):
20.510
Reference Allele:
G
-log10(P):
-213.573
MAF:
0.164
Beta (Num):
0.335
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 biosynthesis/metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Sphingolipid de novo biosynthesis.7[1], 8[2], 9[3]

Ratio Explanation:

The ratio reflects the balance between different sphingomyelin species and a dihydrosphingomyelin, indicating potential alterations in ceramide desaturase or sphingomyelin synthase activities.8[1], 9[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

ESR2 may influence sphingolipid metabolism, altering the sphingomyelin to dihydrosphingomyelin ratio. This dysregulation of sphingolipids, which are involved in glucose and lipid homeostasis, could contribute to the observed changes in HbA1c and triglyceride levels.10[1], 11[2], 12[3], 13[4]

Phenotype Driver:

Gene-centric:ESR2

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