sphingomyelin (d18:2/24:1, d18:1/24:2)* to sphingomyelin (d18:1/17:0, d17:1/18:0, d19:1/16:0)

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

Metabolite Accession: GCST90200047
Name: sphingomyelin (d18:1/17:0, d17:1/18:0, d19:1/16:0)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs1466448

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
0.146
Position:
8289519
SE (Ratio):
0.018
Effect Allele:
C
Z-score (Ratio):
7.962
Reference Allele:
A
-log10(P):
-34.010
MAF:
0.192
Beta (Num):
0.075
Novel Locus:
Yes ✔️
SE (Num):
0.018
Beta (Den):
-0.071
SE (Den):
0.019
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

Region: rs364585

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:
20
Beta (Ratio):
-0.155
Position:
12962718
SE (Ratio):
0.015
Effect Allele:
A
Z-score (Ratio):
-10.347
Reference Allele:
G
-log10(P):
-56.106
MAF:
0.384
Beta (Num):
-0.068
Novel Locus:
Yes ✔️
SE (Num):
0.014
Beta (Den):
0.086
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 metabolism.3[1], 4[2], 5[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism.3[1], 4[2], 5[3]

Ratio Explanation:

The ratio reflects CERS4 activity, comparing sphingomyelins with C24 fatty acids (numerator) to those with shorter or odd-chain fatty acids (denominator).

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Increased CERS4 activity alters sphingomyelin composition. Altered sphingolipid profiles are linked to cholelithiasis and influence LDL cholesterol and liver enzyme (ALT) levels, which are known risk factors and markers for gallstone disease.6[1], 7[2], 8[3], 9[4]

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