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

Numerator 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

Denominator Metabolite

Metabolite Accession: GCST90200169
Name: sphingomyelin (d17:1/14:0, d16:1/15:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs4902243

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):
-0.232
Position:
64234243
SE (Ratio):
0.015
Effect Allele:
G
Z-score (Ratio):
-15.082
Reference Allele:
A
-log10(P):
-116.672
MAF:
0.166
Beta (Num):
-0.033
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.199
SE (Den):
0.019
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.4[1], 7[2], 5[3]

Ratio Explanation:

An elevated ratio may indicate increased SGPP1 activity, which dephosphorylates S1P to sphingosine, a precursor for ceramide and subsequently myristoyl dihydrosphingomyelin.1[1], 2[2], 4[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

SGPP1's role in regulating sphingolipid metabolism may influence lipoprotein profiles and glucose homeostasis, potentially linking it to disorders of lipoprotein metabolism and altered HbA1c and triglyceride levels.8[1], 9[2], 10[3], 11[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