creatinine to n-acetylthreonine

Numerator Metabolite

Structure of creatinine
Metabolite Accession: GCST90200366
Name: creatinine
Hmdb Id: HMDB0000562
Super Pathway: NA
Sub Pathway: NA
Inchikey: DDRJAANPRJIHGJ

Denominator Metabolite

Structure of n-acetylthreonine
Metabolite Accession: GCST90199726
Name: n-acetylthreonine
Hmdb Id: HMDB0062557
Super Pathway: NA
Sub Pathway: NA
Inchikey: PEDXUVCGOLSNLQ

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):
0.131
Position:
211540507
SE (Ratio):
0.016
Effect Allele:
A
Z-score (Ratio):
8.106
Reference Allele:
C
-log10(P):
-35.190
MAF:
0.309
Beta (Num):
0.044
Novel Locus:
Yes ✔️
SE (Num):
0.014
Beta (Den):
-0.087
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:

Creatine metabolism, amino acid degradation.3[1], 4[2], 5[3]

Denominator Metabolite Explanation:

Threonine metabolism, protein acetylation.6[1], 7[2]

Ratio Explanation:

The ratio may reflect altered nitrogen metabolism from CPS1 dysfunction, impacting both creatinine, a product of nitrogen-heavy creatine, and N-acetylthreonine, an acetylated amino acid.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced CPS1 function due to genetic variants likely impairs nitrogen clearance, affecting urea cycle-linked creatinine levels and threonine metabolism, contributing to renal dysfunction and cholelithiasis, which is associated with metabolic changes.1[1], 8[2], 9[3]

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