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

Numerator Metabolite

Structure of palmitoyl dihydrosphingomyelin (d18:0/16:0)*
Metabolite Accession: GCST90200035
Name: palmitoyl dihydrosphingomyelin (d18:0/16:0)*
Hmdb Id: HMDB0010168
Super Pathway: NA
Sub Pathway: NA
Inchikey: QHZIGNLCLJPLCU

Denominator 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

Associated Genomic Regions

Region: rs7157785

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):
-0.520
Position:
64235556
SE (Ratio):
0.021
Effect Allele:
T
Z-score (Ratio):
-24.555
Reference Allele:
G
-log10(P):
-304.903
MAF:
0.166
Beta (Num):
-0.186
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.333
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 biosynthesis4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism7[1], 4[2], 8[3]

Ratio Explanation:

This ratio compares a saturated sphingomyelin precursor to mature sphingomyelins, potentially reflecting desaturase activity in the sphingolipid pathway, converting dihydroceramides to ceramides before sphingomyelin synthesis.9[1], 10[2], 6[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

ESR2 variation likely alters the expression of genes in sphingolipid pathways, modifying this ratio.1[1], 2[2], 3[3] Altered sphingolipid profiles are strongly associated with dyslipidemia, insulin resistance (affecting HbA1c), and triglyceride levels, linking the gene to the observed metabolic phenotypes.11[4], 12[5]

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