sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0)* to behenoyl dihydrosphingomyelin (d18:0/22:0)*

Numerator Metabolite

Metabolite Accession: GCST90200053
Name: sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of behenoyl dihydrosphingomyelin (d18:0/22:0)*
Metabolite Accession: GCST90200059
Name: behenoyl dihydrosphingomyelin (d18:0/22:0)*
Hmdb Id: HMDB0012091
Super Pathway: NA
Sub Pathway: NA
Inchikey: FONAXCRWZQFJHY

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):
0.405
Position:
64234243
SE (Ratio):
0.023
Effect Allele:
G
Z-score (Ratio):
17.415
Reference Allele:
A
-log10(P):
-154.732
MAF:
0.165
Beta (Num):
0.310
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
-0.096
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/biosynthesis.3[1]

Denominator Metabolite Explanation:

Sphingolipid metabolism/biosynthesis.4[1]

Ratio Explanation:

This ratio reflects the conversion of saturated dihydrosphingomyelin to unsaturated sphingomyelin, a key step in sphingolipid biosynthesis potentially influenced by SGPP1's regulation of substrate pools.5[1], 6[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered SGPP1 function likely modifies sphingolipid pathway fluxes, affecting this ratio. Aberrant sphingolipid metabolism is linked to lipoprotein disorders, altered triglyceride levels, and impaired glucose homeostasis (HbA1c), which are the associated phenotypes.7[1], 8[2], 9[3], 10[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