hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to 1-oleoyl-2-docosahexaenoyl-gpc (18:1/22:6)*

Numerator Metabolite

Metabolite Accession: GCST90200243
Name: hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))**
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):
-0.230
Position:
116648917
SE (Ratio):
0.029
Effect Allele:
G
Z-score (Ratio):
-7.819
Reference Allele:
C
-log10(P):
-32.870
MAF:
0.131
Beta (Num):
-0.110
Novel Locus:
Yes ✔️
SE (Num):
0.022
Beta (Den):
0.120
SE (Den):
0.022
No CNV overlap
rQTL cluster:
Reaction Distance:
NA
Closest Genes:

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism, ceramide synthesis4[1], 5[2]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism, phosphatidylcholine biosynthesis6[1], 7[2]

Ratio Explanation:

An inverse relationship between hydroxypalmitoyl sphingomyelin and 1-oleoyl-2-docosahexaenoyl-gpc could reflect a shift in lipid metabolism from sphingolipid synthesis to phosphatidylcholine synthesis or vice-versa.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Decreased APOA1 function, supported by pQTL colocalization, likely impairs HDL-mediated cholesterol efflux, contributing to lipid dysregulation.1[1], 8[2] This, along with altered sphingolipid and glycerophospholipid metabolism, is associated with an increased risk for valvular heart disease, myocardial infarction, and other cardiometabolic disorders.9[3], 10[4]

Phenotype Driver:

Gene-centric:APOA1

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