sphingomyelin (d18:2/24:1, d18:1/24:2)* to sphingomyelin (d18:1/20:0, d16:1/22:0)*

Numerator Metabolite

Metabolite Accession: GCST90200040
Name: sphingomyelin (d18:2/24:1, d18:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of sphingomyelin (d18:1/20:0, d16:1/22:0)*
Metabolite Accession: GCST90200001
Name: sphingomyelin (d18:1/20:0, d16:1/22:0)*
Hmdb Id: HMDB0012102
Super Pathway: NA
Sub Pathway: NA
Inchikey: AADLTHQNYQJHQV

Associated Genomic Regions

Region: rs1871194

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
19
Beta (Ratio):
0.259
Position:
8283819
SE (Ratio):
0.018
Effect Allele:
C
Z-score (Ratio):
14.044
Reference Allele:
A
-log10(P):
-101.495
MAF:
0.462
Beta (Num):
0.058
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.201
SE (Den):
0.016
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

Region: rs4814176

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
20
Beta (Ratio):
-0.248
Position:
12959398
SE (Ratio):
0.018
Effect Allele:
T
Z-score (Ratio):
-13.740
Reference Allele:
C
-log10(P):
-97.252
MAF:
0.386
Beta (Num):
-0.068
Novel Locus:
No
SE (Num):
0.014
Beta (Den):
0.180
SE (Den):
0.015
No CNV overlap
rQTL cluster:
5
Reaction Distance:
NA
Closest Genes:
SPTLC3 ISM1 TASP1 ESF1 NDUFAF5

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis

Denominator Metabolite Explanation:

Sphingolipid biosynthesis

Ratio Explanation:

The ratio reflects the balance of ceramide synthesis, comparing sphingomyelins with C24 fatty acids (numerator) to those with C20/C22 (denominator), potentially modulated by CERS4 activity.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation at the CERS4 locus likely alters its expression, shifting the balance of sphingomyelin species. This dysregulation in sphingolipid metabolism, key in liver function and membrane biology, may predispose individuals to metabolic conditions like cholelithiasis, gout, and elevated ALT levels.3[1], 4[2], 5[3]

Phenotype Driver:

Gene-centric:CERS4

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