sphingomyelin (d18:1/14:0, d16:1/16:0)* to sphingomyelin (d18:1/19:0, d19:1/18:0)*

Numerator Metabolite

Structure of sphingomyelin (d18:1/14:0, d16:1/16:0)*
Metabolite Accession: GCST90199945
Name: sphingomyelin (d18:1/14:0, d16:1/16:0)*
Hmdb Id: HMDB0012097
Super Pathway: NA
Sub Pathway: NA
Inchikey: KYICBZWZQPCUMO

Denominator Metabolite

Metabolite Accession: GCST90200131
Name: sphingomyelin (d18:1/19:0, d19:1/18:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs1466448

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):
0.238
Position:
8289519
SE (Ratio):
0.016
Effect Allele:
C
Z-score (Ratio):
15.072
Reference Allele:
A
-log10(P):
-116.529
MAF:
0.192
Beta (Num):
0.047
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
-0.191
SE (Den):
0.018
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis

Denominator Metabolite Explanation:

Sphingolipid biosynthesis

Ratio Explanation:

This ratio reflects CERS4's role in ceramide synthesis, which are precursors for sphingomyelins; altered CERS4 activity impacts the relative abundance of different sphingomyelin species.4[1], 5[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

a plausible biological link exists between CERS4, the sphingolipid ratio, and phenotypes, as CERS4 dysfunction alters sphingolipid metabolism, which is linked to various diseases.6[1], 7[2], 8[3]

Phenotype Driver:

none

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