sphingomyelin (d18:1/14:0, d16:1/16:0)* to sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0)*

Numerator Metabolite

Structure of sphingomyelin (d18:1/14:0, d16:1/16:0)*
Metabolite Accession: GCST90199945
Name: sphingomyelin (d18:1/14:0, d16:1/16:0)*
Hmdb Id: HMDB0012097
Super Pathway: NA
Sub Pathway: NA
Inchikey: KYICBZWZQPCUMO

Denominator Metabolite

Metabolite Accession: GCST90200053
Name: sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs7412

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:
19
Beta (Ratio):
0.158
Position:
45412079
SE (Ratio):
0.018
Effect Allele:
T
Z-score (Ratio):
8.552
Reference Allele:
C
-log10(P):
-38.953
MAF:
0.084
Beta (Num):
0.041
Novel Locus:
Yes ✔️
SE (Num):
0.027
Beta (Den):
-0.117
SE (Den):
0.026
No CNV overlap
rQTL cluster:
8
Reaction Distance:
NA
Closest Genes:
APOE TOMM40 APOC1 PVRL2 APOC4

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid de novo biosynthesis and metabolism.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Sphingolipid de novo biosynthesis and metabolism.5[1], 6[2], 7[3]

Ratio Explanation:

The ratio reflects altered sphingolipid homeostasis, where APOE genetic variants influence the balance between different sphingomyelin species, potentially affecting cellular membrane function and signaling.8[1], 9[2], 10[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

APOE variants directly influence systemic lipid transport, leading to dyslipidemia, including altered sphingomyelin profiles, which is a major risk factor for atherosclerosis and subsequent myocardial infarction and hypercholesterolemia.11[1], 12[2], 13[3], 14[4]

Phenotype Driver:

Gene-centric:APOE

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