glycosyl ceramide (d18:1/20:0, d16:1/22:0)* to glycosyl-n-behenoyl-sphingadienine (d18:2/22:0)*

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: GCST90200105
Name: glycosyl-n-behenoyl-sphingadienine (d18:2/22:0)*
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):
0.155
Position:
64235556
SE (Ratio):
0.013
Effect Allele:
T
Z-score (Ratio):
12.233
Reference Allele:
G
-log10(P):
-77.565
MAF:
0.167
Beta (Num):
0.158
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.003
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):
-0.131
Position:
8283819
SE (Ratio):
0.010
Effect Allele:
C
Z-score (Ratio):
-13.101
Reference Allele:
A
-log10(P):
-88.617
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

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

Sphingolipid metabolism.5[1]

Ratio Explanation:

The ratio reflects the relative activity of ceramide synthases, with CERS4 directly involved in producing C20 and C22 acyl-chain ceramides, influencing ceramide pool composition.1[1], 2[2], 3[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered CERS4 activity changes the balance of ceramide species.6[1], 3[2] This dysregulation of sphingolipid metabolism is linked to lipoprotein disorders, polyneuropathies, and gout, potentially through inflammatory signaling and metabolic disruption.7[3], 8[4], 9[5], 10[6], 11[7]

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