sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)* to 1-(1-enyl-palmitoyl)-2-palmitoyl-gpc (p-16:0/16:0)*

Numerator Metabolite

Metabolite Accession: GCST90200033
Name: sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)*
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: rs1077989

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):
0.366
Position:
67975822
SE (Ratio):
0.015
Effect Allele:
C
Z-score (Ratio):
24.589
Reference Allele:
A
-log10(P):
-305.742
MAF:
0.477
Beta (Num):
0.010
Novel Locus:
No
SE (Num):
0.014
Beta (Den):
-0.357
SE (Den):
0.015
No CNV overlap
rQTL cluster:
46
Reaction Distance:
NA
Closest Genes:
TMEM229B PLEKHH1 PIGH PLEK2 ARG2

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

Plasmalogen metabolism.9[1]

Ratio Explanation:

The ratio reflects the balance between sphingomyelin and plasmalogen levels, where PIGH may influence the availability of substrates for the synthesis of GPI-anchored proteins.1[1], 2[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

A link between PIGH and the metabolites is plausible as PIGH is involved in GPI-anchor biosynthesis which can influence the availability of lipid substrates.1[1], 2[2], 3[3] However, a direct enzymatic relationship with the specified metabolites is not established.

Phenotype Driver:

Gene-centric:PIGH

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