sphingomyelin (d18:0/18:0, d19:0/17:0)* to sphingomyelin (d18:2/21:0, d16:2/23:0)*

Numerator Metabolite

Structure of sphingomyelin (d18:0/18:0, d19:0/17:0)*
Metabolite Accession: GCST90200056
Name: sphingomyelin (d18:0/18:0, d19:0/17:0)*
Hmdb Id: HMDB0012087
Super Pathway: NA
Sub Pathway: NA
Inchikey: JCELSEVNSMXGKA

Denominator Metabolite

Metabolite Accession: GCST90200129
Name: sphingomyelin (d18:2/21:0, d16:2/23:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs1169288

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):
0.147
Position:
121416650
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
7.763
Reference Allele:
A
-log10(P):
-32.425
MAF:
0.318
Beta (Num):
0.088
Novel Locus:
Yes ✔️
SE (Num):
0.017
Beta (Den):
-0.059
SE (Den):
0.014
No CNV overlap
rQTL cluster:
49
Reaction Distance:
NA
Closest Genes:
HNF1A AC079602.1 C12orf43 OASL SPPL3

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid synthesis and metabolism.8[1], 9[2], 10[3]

Denominator Metabolite Explanation:

Sphingolipid synthesis and metabolism.8[1], 9[2], 10[3]

Ratio Explanation:

HNF1A deficiency alters sphingolipid metabolism, potentially affecting the balance between different sphingomyelin species which differ in their fatty acid composition.7[1], 11[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

HNF1A variants are associated with increased risk for coronary atherosclerosis.12[1], 13[2] Dysregulation of HNF1A alters the expression of genes involved in sphingolipid metabolism, leading to changes in sphingomyelin profiles which are associated with cardiovascular disease.14[3], 15[4], 16[5], 7[6], 11[7]

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