palmitoyl dihydrosphingomyelin (d18:0/16:0)* to 1-stearoyl-2-oleoyl-gpi (18:0/18:1)*

Numerator Metabolite

Structure of palmitoyl dihydrosphingomyelin (d18:0/16:0)*
Metabolite Accession: GCST90200035
Name: palmitoyl dihydrosphingomyelin (d18:0/16:0)*
Hmdb Id: HMDB0010168
Super Pathway: NA
Sub Pathway: NA
Inchikey: QHZIGNLCLJPLCU

Denominator Metabolite

Metabolite Accession: GCST90200077
Name: 1-stearoyl-2-oleoyl-gpi (18:0/18:1)*
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):
-0.271
Position:
45412079
SE (Ratio):
0.032
Effect Allele:
T
Z-score (Ratio):
-8.500
Reference Allele:
C
-log10(P):
-38.501
MAF:
0.084
Beta (Num):
-0.142
Novel Locus:
Yes ✔️
SE (Num):
0.027
Beta (Den):
0.130
SE (Den):
0.027
No CNV overlap
rQTL cluster:
8
Reaction Distance:
NA
Closest Genes:
APOE TOMM40 APOC1 PVRL2 APOC4

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.7[1], 8[2], 9[3]

Denominator Metabolite Explanation:

Glycosylphosphatidylinositol (GPI) anchor biosynthesis.10[1], 11[2]

Ratio Explanation:

The ratio reflects the balance between sphingolipid and glycerophospholipid pools, modulated by the central role of APOE/APOC1 in regulating overall lipoprotein and lipid metabolism.12[1], 13[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in APOE and APOC1 alter lipoprotein composition and metabolism.1[1], 12[2], 14[3] This systemic dyslipidemia, reflected by the lipid ratio, is a key mechanism for associated phenotypes like hypercholesterolemia, cholelithiasis, and ischaemic heart disease.6[4], 13[5]

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