glycosyl-n-palmitoyl-sphingosine (d18:1/16:0) to glycosyl ceramide (d18:1/20:0, d16:1/22:0)*

Numerator Metabolite

Metabolite Accession: GCST90200085
Name: glycosyl-n-palmitoyl-sphingosine (d18:1/16:0)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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: rs7160525

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Clumped rQTL variant

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SNP Summary

Chr:
14
Beta (Ratio):
-0.191
Position:
64232220
SE (Ratio):
0.018
Effect Allele:
A
Z-score (Ratio):
-10.649
Reference Allele:
G
-log10(P):
-59.302
MAF:
0.164
Beta (Num):
-0.032
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
0.159
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):
0.218
Position:
8283819
SE (Ratio):
0.014
Effect Allele:
C
Z-score (Ratio):
15.514
Reference Allele:
A
-log10(P):
-123.309
MAF:
0.461
Beta (Num):
0.034
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

Region: rs686548

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Clumped rQTL variant

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SNP Summary

Chr:
20
Beta (Ratio):
-0.146
Position:
12973521
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
-10.589
Reference Allele:
T
-log10(P):
-58.653
MAF:
0.386
Beta (Num):
-0.031
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.115
SE (Den):
0.016
No CNV overlap
rQTL cluster:
5
Reaction Distance:
NA
Closest Genes:
SPTLC3 ISM1 TASP1 ESF1 NDUFAF5

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis

Denominator Metabolite Explanation:

Sphingolipid biosynthesis

Ratio Explanation:

An elevated ratio may indicate increased activity of CERS4, which produces C18-C20 ceramides, relative to the synthesis of glycosyl ceramides with other acyl chains.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CERS4's role in ceramide synthesis influences lipid metabolism.3[1], 4[2] Altered ceramide profiles are linked to cholelithiasis and dyslipidemia, potentially through impacts on cholesterol and lipoprotein metabolism, and are also associated with gout through inflammatory pathways.5[3], 6[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