sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)* to 1-oleoyl-2-docosahexaenoyl-gpc (18:1/22:6)*

Numerator Metabolite

Metabolite Accession: GCST90200013
Name: sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-oleoyl-2-docosahexaenoyl-gpc (18:1/22:6)*
Metabolite Accession: GCST90200081
Name: 1-oleoyl-2-docosahexaenoyl-gpc (18:1/22:6)*
Hmdb Id: HMDB0008123
Super Pathway: NA
Sub Pathway: NA
Inchikey: FPEVDFOXMCHLKL

Associated Genomic Regions

Region: rs964184

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:
11
Beta (Ratio):
-0.222
Position:
116648917
SE (Ratio):
0.028
Effect Allele:
G
Z-score (Ratio):
-7.900
Reference Allele:
C
-log10(P):
-33.516
MAF:
0.131
Beta (Num):
-0.102
Novel Locus:
Yes ✔️
SE (Num):
0.021
Beta (Den):
0.120
SE (Den):
0.022
No CNV overlap
rQTL cluster:
248
Reaction Distance:
NA
Closest Genes:
ZNF259 BUD13 APOA5 APOA4 APOC3

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.2[1], 3[2], 4[3]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism.5[1]

Ratio Explanation:

The ratio of sphingomyelin to phosphatidylcholine is a key indicator of lipoprotein composition and metabolism, with an elevated ratio linked to cardiovascular disease.6[1]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Alterations in apolipoprotein genes like APOA5 can modify the composition of lipoproteins, including the sphingomyelin to phosphatidylcholine ratio. This dyslipidemia is a significant contributor to the development of atherosclerosis and subsequent cardiovascular events such as myocardial infarction and valvular heart disease.1[1], 7[2], 8[3], 9[4], 6[5]

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