stearoyl sphingomyelin (d18:1/18:0) to sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)*

Numerator Metabolite

Structure of stearoyl sphingomyelin (d18:1/18:0)
Metabolite Accession: GCST90200335
Name: stearoyl sphingomyelin (d18:1/18:0)
Hmdb Id: HMDB0001348
Super Pathway: NA
Sub Pathway: NA
Inchikey: LKQLRGMMMAHREN

Denominator Metabolite

Metabolite Accession: GCST90200013
Name: sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs174567

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
-0.158
Position:
61593005
SE (Ratio):
0.014
Effect Allele:
G
Z-score (Ratio):
-11.187
Reference Allele:
A
-log10(P):
-65.224
MAF:
0.346
Beta (Num):
-0.080
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
0.078
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

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):
-0.276
Position:
8289519
SE (Ratio):
0.017
Effect Allele:
C
Z-score (Ratio):
-16.427
Reference Allele:
A
-log10(P):
-137.959
MAF:
0.191
Beta (Num):
-0.230
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
0.047
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 metabolism

Denominator Metabolite Explanation:

Sphingolipid metabolism

Ratio Explanation:

This ratio reflects the balance between different sphingomyelin species. CERS4 is involved in ceramide synthesis, a precursor to sphingomyelins, but a direct regulatory link is not established.1[1], 2[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Altered CERS4 activity can impact sphingolipid pools, potentially influencing susceptibility to Type 2 diabetes and cholelithiasis, conditions where sphingolipid dysregulation and inflammation are implicated.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