sphingomyelin (d17:1/14:0, d16:1/15:0)* to sphingomyelin (d18:2/21:0, d16:2/23:0)*

Numerator Metabolite

Metabolite Accession: GCST90200169
Name: sphingomyelin (d17:1/14:0, d16:1/15:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90200129
Name: sphingomyelin (d18:2/21:0, d16:2/23:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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):
0.103
Position:
8283819
SE (Ratio):
0.012
Effect Allele:
C
Z-score (Ratio):
8.955
Reference Allele:
A
-log10(P):
-42.529
MAF:
0.461
Beta (Num):
0.035
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
-0.068
SE (Den):
0.013
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

Sphingolipid metabolism.6[1], 4[2]

Ratio Explanation:

CERS4 likely influences the balance of different sphingomyelin species, although the specific relationship between these numerator and denominator species is not directly established.7[1], 8[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CERS4 is linked to gout and urate levels.3[1] Altered CERS4 activity may disrupt sphingomyelin metabolism, a pathway implicated in inflammatory conditions like gout and demyelinating polyneuropathies, where sphingomyelin levels are known to be altered.9[2], 10[3], 11[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