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

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: 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: rs7157785

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Clumped rQTL variant

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SNP Summary

Chr:
14
Beta (Ratio):
-0.344
Position:
64235556
SE (Ratio):
0.021
Effect Allele:
T
Z-score (Ratio):
-16.086
Reference Allele:
G
-log10(P):
-132.386
MAF:
0.166
Beta (Num):
-0.186
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.158
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):
0.231
Position:
8283819
SE (Ratio):
0.017
Effect Allele:
C
Z-score (Ratio):
13.669
Reference Allele:
A
-log10(P):
-96.264
MAF:
0.462
Beta (Num):
0.047
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

LLM Analysis

Numerator Metabolite Explanation:

Sphingomyelin metabolism4[1]

Denominator Metabolite Explanation:

Glycosphingolipid metabolism5[1], 6[2]

Ratio Explanation:

This ratio reflects the balance between sphingomyelin and glycosylceramide synthesis from ceramide precursors. CERS4 activity likely increases the denominator, lowering the ratio.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered CERS4 activity dysregulates sphingolipid metabolism, which is linked to inflammation, insulin resistance, and lipoprotein metabolism.7[1], 8[2], 9[3] These systemic effects plausibly connect the genetic variant to the observed phenotypes of gout, dyslipidemia, and polyneuropathy.10[4], 11[5], 12[6], 13[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