sphingomyelin (d18:2/21:0, d16:2/23:0)* to sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0)*

Numerator 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

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: 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):
-0.130
Position:
121416988
SE (Ratio):
0.016
Effect Allele:
G
Z-score (Ratio):
-8.143
Reference Allele:
A
-log10(P):
-35.490
MAF:
0.318
Beta (Num):
-0.059
Novel Locus:
Yes ✔️
SE (Num):
0.014
Beta (Den):
0.071
SE (Den):
0.017
No CNV overlap
rQTL cluster:
49
Reaction Distance:
NA
Closest Genes:
HNF1A AC079602.1 C12orf43 OASL SPPL3

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid de novo biosynthesis.7[1], 8[2], 9[3]

Denominator Metabolite Explanation:

Sphingolipid de novo biosynthesis.7[1], 8[2], 9[3]

Ratio Explanation:

This ratio reflects the balance of different sphingomyelin species, which can be influenced by enzymatic activity involved in fatty acid desaturation or elongation.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

HNF1A variants alter its transcriptional control over genes involved in lipid metabolism.4[1], 5[2] This dysregulation affects the profile of sphingomyelin species, a class of lipids implicated in atherosclerosis and valvular heart disease, aligning with the observed cardiovascular and lipid-related phenotypes.10[3], 11[4], 12[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