2-butenoylglycine to betaine

Numerator Metabolite

Structure of 2-butenoylglycine
Metabolite Accession: GCST90200152
Name: 2-butenoylglycine
Hmdb Id: HMDB0341232
Super Pathway: NA
Sub Pathway: NA
Inchikey: WWJXRJJBIVSSNF

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

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SNP Summary

Chr:
2
Beta (Ratio):
0.418
Position:
211540507
SE (Ratio):
0.024
Effect Allele:
A
Z-score (Ratio):
17.355
Reference Allele:
C
-log10(P):
-153.689
MAF:
0.326
Beta (Num):
0.262
Novel Locus:
No
SE (Num):
0.018
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 (acyl glycine)

Denominator Metabolite Explanation:

Choline and methionine metabolism

Ratio Explanation:

The ratio may reflect a shift in nitrogen metabolism, where impaired urea cycle function (CPS1) could influence pathways involving glycine conjugation and betaine-dependent methylation.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CPS1 gene variants can impair urea cycle function, leading to metabolic disturbances.2[1], 4[2] This dysfunction, reflected in the metabolite ratio, may contribute to the systemic metabolic stress observed in cholelithiasis and chronic kidney disease.5[3], 6[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