hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to 1-stearoyl-2-oleoyl-gpi (18:0/18:1)*

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

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: rs964184

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
-0.236
Position:
116648917
SE (Ratio):
0.028
Effect Allele:
G
Z-score (Ratio):
-8.368
Reference Allele:
C
-log10(P):
-37.379
MAF:
0.131
Beta (Num):
-0.110
Novel Locus:
Yes ✔️
SE (Num):
0.022
Beta (Den):
0.127
SE (Den):
0.023
No CNV overlap
rQTL cluster:
248
Reaction Distance:
NA
Closest Genes:
ZNF259 BUD13 APOA5 APOA4 APOC3

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.5[1], 6[2]

Denominator Metabolite Explanation:

GPI anchor biosynthesis.7[1], 8[2]

Ratio Explanation:

An elevated ratio suggests a shift in lipid metabolism, potentially influenced by APOC1's role in transporting both sphingolipids and GPI-anchored protein precursors.1[1], 5[2], 7[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

APOC1 dysregulation alters lipoprotein metabolism, affecting the balance of various lipids, including sphingomyelins and GPI-anchor precursors.1[1], 9[2] This lipid imbalance is strongly associated with hypercholesterolemia, cardiovascular diseases, and other metabolic disorders observed in the phenotype data.1[3]

Phenotype Driver:

Gene-centric:APOC1

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