glycosyl ceramide (d18:1/20:0, d16:1/22:0)* to lactosyl-n-nervonoyl-sphingosine (d18:1/24:1)*

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

Structure of lactosyl-n-nervonoyl-sphingosine (d18:1/24:1)*
Metabolite Accession: GCST90200098
Name: lactosyl-n-nervonoyl-sphingosine (d18:1/24:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: MKOKWBRPIBQYJJ

Associated Genomic Regions

Region: rs1871194

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.237
Position:
8283819
SE (Ratio):
0.016
Effect Allele:
C
Z-score (Ratio):
-14.384
Reference Allele:
A
-log10(P):
-106.351
MAF:
0.462
Beta (Num):
-0.184
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.053
SE (Den):
0.016
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

Region: rs1045989

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Clumped rQTL variant

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SNP Summary

Chr:
9
Beta (Ratio):
-0.134
Position:
114696488
SE (Ratio):
0.016
Effect Allele:
A
Z-score (Ratio):
-8.379
Reference Allele:
C
-log10(P):
-37.469
MAF:
0.417
Beta (Num):
-0.073
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
0.061
SE (Den):
0.016
No CNV overlap
rQTL cluster:
80
Reaction Distance:
NA
Closest Genes:
UGCG SUSD1 C9orf84 GNG10 DNAJC25-GNG10

LLM Analysis

Numerator Metabolite Explanation:

Glycosphingolipid biosynthesis.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Glycosphingolipid biosynthesis.7[1], 8[2], 9[3]

Ratio Explanation:

This ratio may reflect the balance between ceramide synthesis by CERS4 and its subsequent glycosylation, where higher CERS4 activity could increase specific glycosylceramides relative to downstream lactosylceramides.1[1], 2[2], 10[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CERS4's role in synthesizing specific ceramides could link to gout and polyneuropathies, as altered ceramide profiles are associated with inflammation in gout and neuronal dysfunction.11[1], 12[2], 13[3], 14[4], 15[5] CERS4 expression is also linked to gout in GWAS.16[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