hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to n-palmitoyl-heptadecasphingosine (d17:1/16:0)*

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: GCST90200115
Name: n-palmitoyl-heptadecasphingosine (d17:1/16:0)*
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

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SNP Summary

Chr:
11
Beta (Ratio):
-0.220
Position:
116648917
SE (Ratio):
0.029
Effect Allele:
G
Z-score (Ratio):
-7.649
Reference Allele:
C
-log10(P):
-31.529
MAF:
0.131
Beta (Num):
-0.110
Novel Locus:
Yes ✔️
SE (Num):
0.022
Beta (Den):
0.110
SE (Den):
0.024
No CNV overlap
rQTL cluster:
248
Reaction Distance:
NA
Closest Genes:
ZNF259 BUD13 APOA5 APOA4 APOC3

LLM Analysis

Numerator Metabolite Explanation:

Sphingomyelin metabolism.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

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

Ratio Explanation:

none

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

The APOA1 pQTL colocalization suggests a causal link between APOA1 and the ratio. APOA1 is central to HDL metabolism and reverse cholesterol transport, processes in which sphingomyelins are involved.10[1], 11[2], 12[3] Dysregulation of both APOA1 and sphingolipids is associated with cardiovascular diseases, the observed phenotypes.13[4], 7[5], 14[6], 15[7]

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