sphingomyelin (d18:1/14:0, d16:1/16:0)* to glycosyl ceramide (d18:1/20:0, d16:1/22:0)*

Numerator Metabolite

Structure of sphingomyelin (d18:1/14:0, d16:1/16:0)*
Metabolite Accession: GCST90199945
Name: sphingomyelin (d18:1/14:0, d16:1/16:0)*
Hmdb Id: HMDB0012097
Super Pathway: NA
Sub Pathway: NA
Inchikey: KYICBZWZQPCUMO

Denominator Metabolite

Metabolite Accession: GCST90200145
Name: glycosyl ceramide (d18:1/20:0, d16:1/22:0)*
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):
0.225
Position:
8283819
SE (Ratio):
0.015
Effect Allele:
C
Z-score (Ratio):
15.302
Reference Allele:
A
-log10(P):
-120.027
MAF:
0.461
Beta (Num):
0.042
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.184
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 metabolism3[1], 4[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism5[1], 6[2]

Ratio Explanation:

The ratio likely reflects altered sphingolipid metabolism, where CERS4 influences ceramide production and ATP10D transports glycosylceramide, affecting the balance between these two lipid classes.2[1], 7[2], 8[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in CERS4 and ATP10D can alter the balance of sphingolipid species, including the sphingomyelin to glycosylceramide ratio.2[1], 9[2], 10[3] This dysregulation of lipid metabolism is linked to inflammation and metabolic disturbances observed in gout and may contribute to nerve dysfunction in polyneuropathies.11[4], 12[5], 13[6]

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