n-palmitoylglycine to betaine

Numerator Metabolite

Structure of n-palmitoylglycine
Metabolite Accession: GCST90199923
Name: n-palmitoylglycine
Hmdb Id: HMDB0013034
Super Pathway: NA
Sub Pathway: NA
Inchikey: KVTFEOAKFFQCCX

Denominator Metabolite

Structure of betaine
Metabolite Accession: GCST90200425
Name: betaine
Hmdb Id: HMDB0000043
Super Pathway: NA
Sub Pathway: NA
Inchikey: KWIUHFFTVRNATP

Associated Genomic Regions

Region: rs1047891

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:
2
Beta (Ratio):
0.403
Position:
211540507
SE (Ratio):
0.024
Effect Allele:
A
Z-score (Ratio):
16.724
Reference Allele:
C
-log10(P):
-142.900
MAF:
0.310
Beta (Num):
0.247
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.156
SE (Den):
0.016
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism, N-acyl-alpha amino acid metabolism.5[1]

Denominator Metabolite Explanation:

Choline metabolism, methionine metabolism, one-carbon metabolism.6[1], 7[2], 8[3]

Ratio Explanation:

An elevated n-palmitoylglycine to betaine ratio may suggest altered nitrogen and fatty acid metabolism, potentially influenced by impaired CPS1-mediated urea cycle function and betaine's role as a methyl donor.9[1], 10[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced CPS1 activity can impair nitrogen clearance, leading to hyperammonemia, which is linked to renal dysfunction.11[1] Altered betaine metabolism is also associated with chronic kidney disease and cholelithiasis, potentially through its roles in methylation and lipid metabolism.12[2], 13[3], 14[4]

Phenotype Driver:

Gene-centric:CPS1

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