sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)* to n-palmitoyl-sphinganine (d18:0/16:0)

Numerator Metabolite

Metabolite Accession: GCST90200033
Name: sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)*
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: rs7160525

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):
0.243
Position:
64232220
SE (Ratio):
0.025
Effect Allele:
A
Z-score (Ratio):
9.844
Reference Allele:
G
-log10(P):
-50.973
MAF:
0.164
Beta (Num):
0.134
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.109
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 metabolism3[1], 4[2]

Denominator Metabolite Explanation:

Sphingolipid de novo synthesis5[1], 6[2]

Ratio Explanation:

The ratio reflects the balance between complex sphingomyelin species and a key ceramide precursor, potentially indicating activity of sphingolipid synthesis and degradation pathways.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Elevated sphingolipids are linked to lipoprotein metabolism disorders and can affect triglyceride and HbA1c levels.7[1], 8[2], 9[3], 10[4] SGPP1's role in sphingolipid metabolism suggests its potential involvement in these phenotype associations, possibly by modulating ceramide and S1P levels which influence metabolic processes.1[5], 11[6], 12[7]

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