sphingomyelin (d18:2/16:0, d18:1/16:1)* to sphingomyelin (d18:1/20:0, d16:1/22:0)*

Numerator Metabolite

Metabolite Accession: GCST90199947
Name: sphingomyelin (d18:2/16:0, d18:1/16:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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: rs1871194

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
0.239
Position:
8283819
SE (Ratio):
0.017
Effect Allele:
C
Z-score (Ratio):
14.227
Reference Allele:
A
-log10(P):
-104.089
MAF:
0.462
Beta (Num):
0.038
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):
-0.253
Position:
12959398
SE (Ratio):
0.016
Effect Allele:
T
Z-score (Ratio):
-15.373
Reference Allele:
C
-log10(P):
-121.123
MAF:
0.387
Beta (Num):
-0.073
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 synthesis.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Sphingolipid synthesis.4[1], 5[2], 6[3]

Ratio Explanation:

The ratio reflects the balance of sphingomyelin species with different fatty acid chain lengths, influenced by ceramide synthase activity like that of CERS4.7[1], 8[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered CERS4 function changes sphingolipid composition, impacting bile and lipid metabolism, which plausibly links to cholelithiasis and gout.9[1], 8[2], 10[3] Dysregulation of sphingolipid metabolism is also linked to the development of polyneuropathies.11[4], 12[5], 13[6]

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