sphingomyelin (d18:1/20:0, d16:1/22:0)* to sphingomyelin (d17:1/16:0, d18:1/15:0, d16:1/17:0)*

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 sphingomyelin (d17:1/16:0, d18:1/15:0, d16:1/17:0)*
Metabolite Accession: GCST90200017
Name: sphingomyelin (d17:1/16:0, d18:1/15:0, d16:1/17:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: LQINJRUGTUOHGS

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):
-0.232
Position:
8283819
SE (Ratio):
0.014
Effect Allele:
C
Z-score (Ratio):
-16.340
Reference Allele:
A
-log10(P):
-136.515
MAF:
0.462
Beta (Num):
-0.201
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.031
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 biosynthesis

Denominator Metabolite Explanation:

Sphingolipid biosynthesis

Ratio Explanation:

The ratio reflects the relative activity of ceramide synthases, with CERS4 potentially influencing the balance between different sphingomyelin species affecting cellular processes.1[1], 3[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

CERS4's role in synthesizing specific ceramides could alter sphingomyelin composition, potentially impacting nerve cell membrane integrity and contributing to polyneuropathies.4[1], 5[2] Altered sphingolipid metabolism is also linked to gout and elevated uric acid.6[3], 7[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