SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT00149305

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

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
MeSH: Nephrolithiasis Kidney Calculi Disease Susceptibility
HPO: Nephrolithiasis

2 Interventions

Name: Genetic analyses

Type: Other

Patients with gouthy diathesis

Name: Genetic analyses

Type: Other

Healthy subjects



Time Perspective: Prospective

Case Control


There is one SNP

SNPs


1 A62T

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 ---



HPO Nodes


HPO:
Nephrolithiasis
Genes 97
ADCY10 CDKN1C CACNA1D H19-ICR HGD HSPG2 ATP6V1B1 HNF1B ADAMTSL1 ATP7B SLC2A9 GCM2 KRT17 MICOS13 CLIP2 HLA-DRB1 CYP24A1 CYP27A1 AGPAT2 SLC6A19 NTNG1 BAZ1B CDH23 XDH SI CASR OCRL AIP SLC34A3 ACVRL1 RFC2 GABBR2 APRT GTF2IRD1 GDF2 SERPINH1 SLC1A1 MECP2 PREPL SLC26A1 AR CLDN10 SLC36A2 SLC22A12 PPM1B SLC3A1 SLC7A9 CDKL5 USP8 LIMK1 AP2S1 SLC9A3R1 FBN1 GTF2I IGF2 STXBP1 CLCN5 GRHPR SLC34A1 KCNH1 HOGA1 HPRT1 BTNL2 ARMC5 SETBP1 SLC6A20 AGXT CLDN16 KCNQ1 ANTXR1 CAMKMT GNA11 CTH BSCL2 PAX2 PLCD1 ELN CLDN19 CDC73 CTNS GNAS PLG ENG KCNQ1OT1 G6PC SLC37A4 TBL2 MOCS1 FOXG1 MOCS2 H19 OPLAH SMAD4 MGME1 MOCOS VDR PRPS1