sphingomyelin (d18:1/18:1, d18:2/18:0) to sphingomyelin (d18:0/20:0, d16:0/22:0)*

Numerator Metabolite

Structure of sphingomyelin (d18:1/18:1, d18:2/18:0)
Metabolite Accession: GCST90199878
Name: sphingomyelin (d18:1/18:1, d18:2/18:0)
Hmdb Id: HMDB0012101
Super Pathway: NA
Sub Pathway: NA
Inchikey: NBEADXWAAWCCDG

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: rs7310409

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):
-0.186
Position:
121424861
SE (Ratio):
0.019
Effect Allele:
A
Z-score (Ratio):
-10.029
Reference Allele:
G
-log10(P):
-52.833
MAF:
0.382
Beta (Num):
-0.088
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.098
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 de novo synthesis and salvage pathways.4[1], 5[2]

Denominator Metabolite Explanation:

Sphingomyelin de novo synthesis and salvage pathways.4[1], 5[2]

Ratio Explanation:

The ratio reflects altered sphingomyelin metabolism, where HNF1A deficiency can disrupt sphingolipid homeostasis, impacting the balance of different sphingomyelin species.6[1], 7[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

HNF1A variants are linked to cholelithiasis and myocardial infarction.8[1], 1[2], 3[3] Altered HNF1A function likely dysregulates sphingolipid metabolism, reflected in the sphingomyelin ratio, contributing to the pathogenesis of these diseases, potentially mediated by changes in LDL cholesterol.1[4], 9[5]

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