sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)* to sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0)*

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 sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0)*
Metabolite Accession: GCST90200134
Name: sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: JONXXLXMISNQNG

Associated Genomic Regions

Region: rs8012828

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):
0.187
Position:
64233980
SE (Ratio):
0.019
Effect Allele:
T
Z-score (Ratio):
9.744
Reference Allele:
C
-log10(P):
-49.990
MAF:
0.165
Beta (Num):
0.131
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.057
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]

Denominator Metabolite Explanation:

Sphingolipid metabolism.4[1]

Ratio Explanation:

The ratio reflects sphingomyelin species composition. SGPP1's role in recycling sphingosine for ceramide synthesis could influence the acyl chain composition of downstream sphingomyelins.2[1], 5[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

The gene SGPP1 regulates the levels of sphingosine-1-phosphate, a key signaling molecule in lipid metabolism.1[1], 2[2] Alterations in SGPP1 function likely impact the overall sphingolipid pool, including various sphingomyelin species, which is reflected in the ratio and associated with disorders of lipoprotein metabolism, triglycerides, and HbA1c levels.6[3], 7[4], 8[5]

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