sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)* to sphingomyelin (d17:2/16:0, d18:2/15:0)*

Numerator Metabolite

Structure of sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*
Metabolite Accession: GCST90200010
Name: sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*
Hmdb Id: HMDB0012104
Super Pathway: NA
Sub Pathway: NA
Inchikey: VBFKEZGCUWHGSK

Denominator Metabolite

Metabolite Accession: GCST90200125
Name: sphingomyelin (d17:2/16:0, d18:2/15:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs964184

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
11
Beta (Ratio):
-0.128
Position:
116648917
SE (Ratio):
0.017
Effect Allele:
G
Z-score (Ratio):
-7.550
Reference Allele:
C
-log10(P):
-30.763
MAF:
0.131
Beta (Num):
-0.074
Novel Locus:
Yes ✔️
SE (Num):
0.021
Beta (Den):
0.053
SE (Den):
0.020
No CNV overlap
rQTL cluster:
248
Reaction Distance:
NA
Closest Genes:
ZNF259 BUD13 APOA5 APOA4 APOC3

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis

Denominator Metabolite Explanation:

Sphingolipid biosynthesis

Ratio Explanation:

This ratio contrasts sphingomyelin species with different acyl chains, likely reflecting altered lipoprotein composition due to variants in apolipoprotein genes (APOA1/A5) that regulate lipid transport.3[1], 4[2], 5[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in the APOA1/A5 locus alters apolipoprotein function, leading to dyslipidemia, which is reflected by the sphingomyelin ratio.1[1], 6[2], 2[3] This altered lipid profile is a causal factor for atherosclerosis, myocardial infarction, and other observed cardiovascular diseases.3[4], 5[5], 7[6]

Phenotype Driver:

Gene-centric:APOA5

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