sphingomyelin (d18:1/20:1, d18:2/20:0)* to sphingomyelin (d18:0/20:0, d16:0/22:0)*

Numerator Metabolite

Metabolite Accession: GCST90199996
Name: sphingomyelin (d18:1/20:1, d18:2/20:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90200123
Name: sphingomyelin (d18:0/20:0, d16:0/22:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs2244608

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:
12
Beta (Ratio):
-0.192
Position:
121416988
SE (Ratio):
0.021
Effect Allele:
G
Z-score (Ratio):
-9.006
Reference Allele:
A
-log10(P):
-42.994
MAF:
0.317
Beta (Num):
-0.077
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.115
SE (Den):
0.016
No CNV overlap
rQTL cluster:
49
Reaction Distance:
NA
Closest Genes:
HNF1A AC079602.1 C12orf43 OASL SPPL3

LLM Analysis

Numerator Metabolite Explanation:

Sphingomyelin synthesis and degradation.

Denominator Metabolite Explanation:

Sphingomyelin synthesis and degradation.

Ratio Explanation:

The ratio reflects altered sphingolipid metabolism, potentially influenced by HNF1A, where different sphingomyelin species may impact membrane function and signaling pathways related to cardiometabolic health.6[1], 10[2], 11[3], 12[4], 13[5], 14[6]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

HNF1A variants alter sphingolipid metabolism, and this dysregulation, particularly in sphingomyelin profiles, is associated with an increased risk of valvular heart disease, myocardial infarction, and cholelithiasis, likely through effects on inflammation, lipid metabolism, and cellular signaling.2[1], 3[2], 11[3], 4[4], 8[5], 9[6]

Phenotype Driver:

Gene-centric:HNF1A

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