glycosyl ceramide (d18:1/20:0, d16:1/22:0)* to glycosyl ceramide (d18:2/24:1, d18:1/24:2)*

Numerator 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

Denominator Metabolite

Metabolite Accession: GCST90200118
Name: glycosyl ceramide (d18:2/24:1, d18:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs7157785

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Clumped rQTL variant

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SNP Summary

Chr:
14
Beta (Ratio):
0.180
Position:
64235556
SE (Ratio):
0.017
Effect Allele:
T
Z-score (Ratio):
10.543
Reference Allele:
G
-log10(P):
-58.170
MAF:
0.167
Beta (Num):
0.158
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.022
SE (Den):
0.020
No CNV overlap
rQTL cluster:
47
Reaction Distance:
NA
Closest Genes:
SGPP1 SYNE2 WDR89 PPP2R5E ESR2

Region: rs1871194

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.225
Position:
8283819
SE (Ratio):
0.013
Effect Allele:
C
Z-score (Ratio):
-16.734
Reference Allele:
A
-log10(P):
-143.053
MAF:
0.462
Beta (Num):
-0.184
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.041
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/metabolism

Denominator Metabolite Explanation:

Sphingolipid biosynthesis/metabolism

Ratio Explanation:

The ratio reflects CERS4's substrate preference, influencing the balance between different ceramide species.2[1], 3[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CERS4 variants may alter ceramide profiles, impacting lipoprotein metabolism and increasing uric acid levels, which is associated with gout.4[1], 5[2] This could also contribute to polyneuropathies.

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