SNPMiner Trials (Home Page)
Report for Mutation A62T
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There is one clinical trial.
Clinical Trials
1 Genetic Study of Nephrolithiasis in Gouty Diathesis
Gouty diathesis describes uric acid or calcium oxalate nephrolithiasis and low urinary pH (<5.5). A hereditary component has been outlined for several forms of nephrolithiasis (such as hypercalciuria, hyperoxaluria, cystinuria, renal tubular acidosis), leading to the hypothesis of a genetic predisposition to nephrolithiasis. At the Unit of Nephrology, Ospedali Riuniti di Bergamo, more than 100 patients affected by gouty diathesis are followed. Fifty percent of them has a familiarity for kidney stones formation. The aim of our study is to identify the genetic factors that predispose to the development of nephrolithiasis in patients with gouty diathesis.
NCT00149305 Nephrolithiasis Other: Genetic analyses Other: Genetic analyses MeSH:Nephrolithiasis Kidney Calculi Disease Susceptibility
HPO:Nephrolithiasis
They found an association of UAN to a new gene, called ZNF365, and in particular to its variant Ala62Thr, making it a strong candidate predisposing factor. --- Ala62Thr ---