tricosanoyl sphingomyelin (d18:1/23:0)* to sphingomyelin (d18:1/20:0, d16:1/22:0)*

Numerator Metabolite

Structure of tricosanoyl sphingomyelin (d18:1/23:0)*
Metabolite Accession: GCST90200034
Name: tricosanoyl sphingomyelin (d18:1/23:0)*
Hmdb Id: HMDB0012105
Super Pathway: NA
Sub Pathway: NA
Inchikey: SXZWBNWTCVLZJN

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: rs8008068

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Clumped rQTL variant

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SNP Summary

Chr:
14
Beta (Ratio):
-0.277
Position:
64233717
SE (Ratio):
0.017
Effect Allele:
G
Z-score (Ratio):
-16.591
Reference Allele:
A
-log10(P):
-140.670
MAF:
0.166
Beta (Num):
0.022
Novel Locus:
No
SE (Num):
0.019
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

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
0.236
Position:
8283819
SE (Ratio):
0.013
Effect Allele:
C
Z-score (Ratio):
17.864
Reference Allele:
A
-log10(P):
-162.669
MAF:
0.462
Beta (Num):
0.035
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.201
SE (Den):
0.016
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

Region: rs4814176

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:
20
Beta (Ratio):
-0.228
Position:
12959398
SE (Ratio):
0.013
Effect Allele:
T
Z-score (Ratio):
-17.688
Reference Allele:
C
-log10(P):
-159.531
MAF:
0.386
Beta (Num):
-0.048
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.180
SE (Den):
0.015
No CNV overlap
rQTL cluster:
5
Reaction Distance:
NA
Closest Genes:
SPTLC3 ISM1 TASP1 ESF1 NDUFAF5

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.3[1]

Denominator Metabolite Explanation:

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

Ratio Explanation:

This ratio may reflect altered ceramide synthase activity, where CERS4 influences the balance between different sphingomyelin species affecting membrane composition and signaling.5[1]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered CERS4 activity likely modifies the sphingolipid profile, including the ratio of tricosanoyl sphingomyelin to other sphingomyelins, which is associated with cholelithiasis.6[1], 7[2], 8[3]

Phenotype Driver:

Metabolite-centric:tricosanoyl sphingomyelin (d18:1/23:0)* to sphingomyelin (d18:1/20:0, d16:1/22:0)*

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