sphingomyelin (d18:1/17:0, d17:1/18:0, d19:1/16:0) to n-palmitoyl-sphinganine (d18:0/16:0)

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 n-palmitoyl-sphinganine (d18:0/16:0)
Metabolite Accession: GCST90200064
Name: n-palmitoyl-sphinganine (d18:0/16:0)
Hmdb Id: HMDB11760
Super Pathway: NA
Sub Pathway: NA
Inchikey: GCGTXOVNNFGTPQ

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):
0.299
Position:
64232386
SE (Ratio):
0.027
Effect Allele:
A
Z-score (Ratio):
11.179
Reference Allele:
G
-log10(P):
-65.130
MAF:
0.164
Beta (Num):
0.187
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.112
SE (Den):
0.021
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]

Denominator Metabolite Explanation:

Sphingolipid de novo synthesis.6[1], 7[2]

Ratio Explanation:

This ratio may reflect the balance between sphingomyelin synthesis and the availability of its precursor, dihydroceramide, potentially modulated by SGPP1's role in sphingolipid recycling.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Elevated levels of certain sphingomyelins are associated with increased HbA1c and triglycerides.8[1], 9[2] ESR2, also linked to triglyceride levels, and SGPP1, which influences sphingolipid metabolism, may contribute to this association, but a direct causal link between the ratio and phenotypes is not established.10[3], 11[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