1-palmitoyl-2-stearoyl-gpc (16:0/18:0) to palmitoyl sphingomyelin (d18:1/16:0)

Numerator Metabolite

Structure of 1-palmitoyl-2-stearoyl-gpc (16:0/18:0)
Metabolite Accession: GCST90200041
Name: 1-palmitoyl-2-stearoyl-gpc (16:0/18:0)
Hmdb Id: HMDB0007970
Super Pathway: NA
Sub Pathway: NA
Inchikey: PZNPLUBHRSSFHT

Denominator Metabolite

Structure of palmitoyl sphingomyelin (d18:1/16:0)
Metabolite Accession: GCST90199876
Name: palmitoyl sphingomyelin (d18:1/16:0)
Hmdb Id: HMDB0010169
Super Pathway: NA
Sub Pathway: NA
Inchikey: RWKUXQNLWDTSLO

Associated Genomic Regions

Region: rs964184

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
11
Beta (Ratio):
0.213
Position:
116648917
SE (Ratio):
0.023
Effect Allele:
G
Z-score (Ratio):
9.266
Reference Allele:
C
-log10(P):
-45.397
MAF:
0.131
Beta (Num):
0.153
Novel Locus:
No
SE (Num):
0.023
Beta (Den):
-0.060
SE (Den):
0.022
No CNV overlap
rQTL cluster:
248
Reaction Distance:
NA
Closest Genes:
ZNF259 BUD13 APOA5 APOA4 APOC3

LLM Analysis

Numerator Metabolite Explanation:

Phosphatidylcholine biosynthesis3[1]

Denominator Metabolite Explanation:

Sphingomyelin biosynthesis4[1], 3[2]

Ratio Explanation:

This ratio reflects the balance between glycerophospholipid and sphingolipid synthesis, which is influenced by FADS1's role in modulating the fatty acid precursor pool.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1 alters fatty acid desaturation, affecting the composition of major lipids like phosphatidylcholines and sphingomyelins.5[1], 6[2] This dysregulation is linked to altered lipoprotein metabolism (Pure hypercholesterolaemia) and an increased risk for various cardiovascular diseases, including angina and myocardial infarction.7[3], 8[4], 9[5]

Phenotype Driver:

Gene-centric:FADS1

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