hydantoin-5-propionate to isovalerylglycine

Numerator Metabolite

Structure of hydantoin-5-propionate
Metabolite Accession: GCST90199902
Name: hydantoin-5-propionate
Hmdb Id: HMDB0001212
Super Pathway: NA
Sub Pathway: NA
Inchikey: VWFWNXQAMGDPGG

Denominator Metabolite

Structure of isovalerylglycine
Metabolite Accession: GCST90199785
Name: isovalerylglycine
Hmdb Id: HMDB00678
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZRQXMKMBBMNNQC

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):
-0.289
Position:
211540507
SE (Ratio):
0.021
Effect Allele:
A
Z-score (Ratio):
-13.746
Reference Allele:
C
-log10(P):
-97.327
MAF:
0.310
Beta (Num):
-0.070
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.219
SE (Den):
0.018
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Histidine metabolism.6[1]

Denominator Metabolite Explanation:

Leucine catabolism.7[1], 8[2], 9[3], 10[4]

Ratio Explanation:

Reduced CPS1 function can lead to hyperammonemia and altered amino acid metabolism, although a direct link between hydantoin-5-propionate and isovalerylglycine through CPS1 is not established.

Ratio Evidence:

metabolites unrelated

Gene Ratio Phenotype Relationship:

Reduced CPS1 activity is associated with an increased risk of chronic kidney disease and cholelithiasis.11[1], 12[2], 13[3], 14[4], 15[5], 16[6], 17[7] The altered metabolite ratio may reflect systemic metabolic stress resulting from impaired urea cycle function, contributing to these phenotypes.

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