myristoyl dihydrosphingomyelin (d18:0/14:0)* to sphingomyelin (d18:1/19:0, d19:1/18:0)*

Numerator Metabolite

Structure of myristoyl dihydrosphingomyelin (d18:0/14:0)*
Metabolite Accession: GCST90200049
Name: myristoyl dihydrosphingomyelin (d18:0/14:0)*
Hmdb Id: HMDB0012085
Super Pathway: NA
Sub Pathway: NA
Inchikey: MJAFYELZQYPMQG

Denominator Metabolite

Metabolite Accession: GCST90200131
Name: sphingomyelin (d18:1/19:0, d19:1/18:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs12897637

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Clumped rQTL variant

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SNP Summary

Chr:
14
Beta (Ratio):
-0.284
Position:
64239351
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
-14.753
Reference Allele:
T
-log10(P):
-111.745
MAF:
0.165
Beta (Num):
-0.034
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.250
SE (Den):
0.019
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):
0.189
Position:
8283819
SE (Ratio):
0.015
Effect Allele:
C
Z-score (Ratio):
12.445
Reference Allele:
A
-log10(P):
-80.196
MAF:
0.462
Beta (Num):
0.036
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.153
SE (Den):
0.015
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism2[1]

Denominator Metabolite Explanation:

Sphingolipid metabolism3[1], 4[2]

Ratio Explanation:

An elevated ratio of myristoyl dihydrosphingomyelin to a specific sphingomyelin suggests a shift in sphingolipid composition, potentially due to altered ceramide synthase activity.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered CERS4 activity likely modifies sphingolipid profiles, contributing to dyslipidemia and potentially influencing nerve function and purine metabolism, leading to polyneuropathies and gout.5[1], 6[2], 7[3]

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