palmitoyl dihydrosphingomyelin (d18:0/16:0)* to glycosyl-n-stearoyl-sphingosine (d18:1/18:0)

Numerator Metabolite

Structure of palmitoyl dihydrosphingomyelin (d18:0/16:0)*
Metabolite Accession: GCST90200035
Name: palmitoyl dihydrosphingomyelin (d18:0/16:0)*
Hmdb Id: HMDB0010168
Super Pathway: NA
Sub Pathway: NA
Inchikey: QHZIGNLCLJPLCU

Denominator Metabolite

Metabolite Accession: GCST90199846
Name: glycosyl-n-stearoyl-sphingosine (d18:1/18:0)
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):
-0.251
Position:
64235556
SE (Ratio):
0.021
Effect Allele:
T
Z-score (Ratio):
-11.880
Reference Allele:
G
-log10(P):
-73.280
MAF:
0.166
Beta (Num):
-0.186
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.065
SE (Den):
0.020
No CNV overlap
rQTL cluster:
47
Reaction Distance:
NA
Closest Genes:
SGPP1 SYNE2 WDR89 PPP2R5E ESR2

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):
0.163
Position:
8283819
SE (Ratio):
0.017
Effect Allele:
C
Z-score (Ratio):
9.744
Reference Allele:
A
-log10(P):
-49.985
MAF:
0.462
Beta (Num):
0.047
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.115
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.3[1], 4[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism.3[1], 4[2]

Ratio Explanation:

CERS4 synthesizes C18-ceramide, a precursor for both the numerator and denominator.5[1] The ratio reflects the downstream processing of CERS4-derived ceramides.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered CERS4 activity dysregulates sphingolipid metabolism, a process linked to lipoprotein disorders, gout, and polyneuropathies.6[1], 7[2], 8[3], 9[4], 10[5] These phenotypes are associated with abnormal circulating sphingolipid levels, including ceramides and sphingomyelins, which CERS4 helps produce.11[6], 12[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