sphingomyelin (d18:0/20:0, d16:0/22:0)* to sphingomyelin (d18:2/21:0, d16:2/23:0)*

Numerator 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

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: rs2264750

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):
0.177
Position:
121450165
SE (Ratio):
0.019
Effect Allele:
T
Z-score (Ratio):
9.502
Reference Allele:
C
-log10(P):
-47.630
MAF:
0.297
Beta (Num):
0.110
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
-0.068
SE (Den):
0.014
No CNV overlap
rQTL cluster:
49
Reaction Distance:
NA
Closest Genes:
C12orf43 OASL HNF1A AC079602.1 SPPL3

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid synthesis5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Sphingolipid synthesis5[1], 6[2], 7[3]

Ratio Explanation:

The ratio compares saturated to unsaturated and odd-chain sphingomyelins, potentially reflecting altered lipid metabolism regulated by the transcription factor HNF1A.3[1], 1[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

HNF1A variants alter its transcriptional control over genes in lipid metabolism, influencing the sphingomyelin profile.1[1], 8[2] This dyslipidemia is linked to an increased risk for pure hypercholesterolemia and cardiovascular diseases like myocardial infarction and angina pectoris.9[3], 4[4], 10[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