sphingomyelin (d18:1/20:0, d16:1/22:0)* to myristoyl dihydrosphingomyelin (d18:0/14:0)*

Numerator 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

Denominator Metabolite

Structure of myristoyl dihydrosphingomyelin (d18:0/14:0)*
Metabolite Accession: GCST90200049
Name: myristoyl dihydrosphingomyelin (d18:0/14:0)*
Hmdb Id: HMDB0012085
Super Pathway: NA
Sub Pathway: NA
Inchikey: MJAFYELZQYPMQG

Associated Genomic Regions

Region: rs1871194

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):
-0.237
Position:
8283819
SE (Ratio):
0.016
Effect Allele:
C
Z-score (Ratio):
-14.438
Reference Allele:
A
-log10(P):
-107.132
MAF:
0.462
Beta (Num):
-0.201
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.036
SE (Den):
0.016
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

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

Ratio Explanation:

The ratio reflects the relative activity of ceramide desaturase 1 (DEGS1) versus the activity of ceramide synthases like CERS4 in the sphingolipid pathway.1[1], 5[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CERS4 influences the balance of specific ceramide species.1[1] Altered sphingolipid profiles are associated with gout, and dysregulation of lipid metabolism is linked to changes in HbA1c and triglycerides, suggesting a gene-to-metabolite-to-phenotype link.6[2], 7[3], 8[4], 9[5], 10[6], 11[7]

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