palmitoyl sphingomyelin (d18:1/16:0) to glycosyl-n-behenoyl-sphingadienine (d18:2/22:0)*

Numerator Metabolite

Structure of palmitoyl sphingomyelin (d18:1/16:0)
Metabolite Accession: GCST90199876
Name: palmitoyl sphingomyelin (d18:1/16:0)
Hmdb Id: HMDB0010169
Super Pathway: NA
Sub Pathway: NA
Inchikey: RWKUXQNLWDTSLO

Denominator Metabolite

Metabolite Accession: GCST90200105
Name: glycosyl-n-behenoyl-sphingadienine (d18:2/22:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs35818294

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:
4
Beta (Ratio):
-0.289
Position:
47545141
SE (Ratio):
0.018
Effect Allele:
A
Z-score (Ratio):
-16.345
Reference Allele:
C
-log10(P):
-136.604
MAF:
0.176
Beta (Num):
0.011
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.300
SE (Den):
0.020
No CNV overlap
rQTL cluster:
126
Reaction Distance:
NA
Closest Genes:
ATP10D CORIN COMMD8 GABRB1 NFXL1

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid synthesis

Denominator Metabolite Explanation:

Sphingolipid/Glycosphingolipid metabolism

Ratio Explanation:

The ratio reflects the balance between sphingomyelin and glycosylceramide, two sphingolipid classes. Perturbations may indicate altered lipid metabolism, influenced by APOE's role in lipid transport and ATP10D's specific glucosylceramide flippase activity.7[1], 8[2], 6[3], 9[4], 10[5]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered APOE-mediated lipid transport and ATP10D-regulated glucosylceramide flipping likely disrupt sphingolipid homeostasis. This dysregulation is associated with lipoprotein metabolism disorders and an increased risk of hypertension and myocardial infarction, which are observed phenotypes.1[1], 2[2], 11[3], 6[4], 10[5], 3[6]

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