guanidinoacetate to threonine

Numerator Metabolite

Structure of guanidinoacetate
Metabolite Accession: GCST90200384
Name: guanidinoacetate
Hmdb Id: HMDB0000128
Super Pathway: NA
Sub Pathway: NA
Inchikey: BPMFZUMJYQTVII

Denominator Metabolite

Structure of threonine
Metabolite Accession: GCST90200432
Name: threonine
Hmdb Id: HMDB0000167
Super Pathway: NA
Sub Pathway: NA
Inchikey: AYFVYJQAPQTCCC

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):
0.202
Position:
211540507
SE (Ratio):
0.021
Effect Allele:
A
Z-score (Ratio):
9.432
Reference Allele:
C
-log10(P):
-46.963
MAF:
0.310
Beta (Num):
0.079
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.123
SE (Den):
0.017
No CNV overlap
rQTL cluster:
140
Reaction Distance:
5.0
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Creatine biosynthesis, Arginine and Proline Metabolism.6[1], 7[2]

Denominator Metabolite Explanation:

Amino acid metabolism, Protein synthesis.8[1], 9[2], 10[3]

Ratio Explanation:

Altered CPS1 function disrupts urea cycle flux and precursor availability (arginine, glycine) for guanidinoacetate synthesis, changing its ratio relative to the essential amino acid threonine.3[1], 8[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Deficient CPS1 activity impairs ammonia detoxification, leading to hyperammonemia. This systemic metabolic disruption contributes to renal failure and chronic kidney disease, and is associated with cholelithiasis, likely through altered bile composition or liver injury.11[1], 12[2], 13[3], 14[4], 15[5], 16[6]

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