palmitoyl-sphingosine-phosphoethanolamine (d18:1/16:0) to 1-(1-enyl-palmitoyl)-2-palmitoyl-gpc (p-16:0/16:0)*

Numerator Metabolite

Metabolite Accession: GCST90200237
Name: palmitoyl-sphingosine-phosphoethanolamine (d18:1/16:0)
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):
0.378
Position:
67969108
SE (Ratio):
0.015
Effect Allele:
A
Z-score (Ratio):
25.476
Reference Allele:
G
-log10(P):
-327.976
MAF:
0.477
Beta (Num):
0.023
Novel Locus:
No
SE (Num):
0.015
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.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Plasmalogen/Glycerophospholipid metabolism.7[1], 8[2]

Ratio Explanation:

A higher ratio may indicate a shift from plasmalogen synthesis to sphingolipid metabolism, potentially influenced by TMEM229B's role in lipid homeostasis.3[1], 9[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in TMEM229B alters lipid homeostasis, reflected by the ratio, which is associated with lipoprotein metabolism disorders and contributes to macular degeneration pathogenesis, potentially via inflammatory pathways or lipoprotein modulation.2[1], 3[2]

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