sphingomyelin (d18:2/24:1, d18:1/24:2)* to 1-(1-enyl-palmitoyl)-2-palmitoyl-gpc (p-16:0/16:0)*

Numerator Metabolite

Metabolite Accession: GCST90200040
Name: sphingomyelin (d18:2/24:1, d18:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-(1-enyl-palmitoyl)-2-palmitoyl-gpc (p-16:0/16:0)*
Metabolite Accession: GCST90200083
Name: 1-(1-enyl-palmitoyl)-2-palmitoyl-gpc (p-16:0/16:0)*
Hmdb Id: HMDB0011206
Super Pathway: NA
Sub Pathway: NA
Inchikey: PEWXKAOBUSBJLD

Associated Genomic Regions

Region: rs72719193

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:
14
Beta (Ratio):
0.364
Position:
67969108
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
26.337
Reference Allele:
G
-log10(P):
-350.325
MAF:
0.478
Beta (Num):
0.010
Novel Locus:
No
SE (Num):
0.014
Beta (Den):
-0.355
SE (Den):
0.015
No CNV overlap
rQTL cluster:
46
Reaction Distance:
NA
Closest Genes:
TMEM229B PLEKHH1 PIGH PLEK2 EIF2S1

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.6[1], 7[2], 8[3], 9[4], 10[5]

Denominator Metabolite Explanation:

Plasmalogen biosynthesis.

Ratio Explanation:

The ratio of sphingomyelin to plasmalogen may reflect a balance in membrane composition and signaling molecule generation, potentially influenced by TMEM229B's role in plasmalogen homeostasis.2[1], 4[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

A higher sphingomyelin to plasmalogen ratio is associated with TMEM229B, a gene linked to inflammatory bowel disease.2[1], 4[2], 5[3] Overexpression of TMEM229B leads to reduced plasmalogen levels, suggesting a potential causal link between TMEM229B, this metabolic ratio, and the inflammatory phenotype.2[4], 4[5]

Phenotype Driver:

Gene-centric:TMEM229B

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