palmitoyl dihydrosphingomyelin (d18:0/16:0)* to sphingomyelin (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

Structure of sphingomyelin (d18:1/20:0, d16:1/22:0)*
Metabolite Accession: GCST90200001
Name: sphingomyelin (d18:1/20:0, d16:1/22:0)*
Hmdb Id: HMDB0012102
Super Pathway: NA
Sub Pathway: NA
Inchikey: AADLTHQNYQJHQV

Associated Genomic Regions

Region: rs7157785

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Clumped rQTL variant

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SNP Summary

Chr:
14
Beta (Ratio):
-0.485
Position:
64235556
SE (Ratio):
0.022
Effect Allele:
T
Z-score (Ratio):
-21.850
Reference Allele:
G
-log10(P):
-242.023
MAF:
0.166
Beta (Num):
-0.186
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.299
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):
0.248
Position:
8283819
SE (Ratio):
0.018
Effect Allele:
C
Z-score (Ratio):
14.092
Reference Allele:
A
-log10(P):
-102.175
MAF:
0.462
Beta (Num):
0.047
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.201
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 biosynthesis3[1], 4[2]

Denominator Metabolite Explanation:

Sphingolipid biosynthesis5[1], 3[2]

Ratio Explanation:

The ratio of palmitoyl dihydrosphingomyelin to a specific sphingomyelin may reflect altered CERS4 activity, impacting the balance of different sphingolipid species.6[1]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered CERS4 activity can disrupt sphingolipid metabolism, a process linked to polyneuropathy, lipoprotein disorders, and gout.7[1], 8[2], 9[3], 10[4], 11[5] Dysregulation of sphingolipid levels, influenced by CERS4, is associated with these phenotypes.12[6], 13[7], 14[8]

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