Identification of novel potential genetic predictors of urothelial bladder carcinoma susceptibility in Pakistani population

AbstractUrothelial bladder carcinoma (UBC) is the most common among urinary bladder neoplasms. We carried out a preliminary study to determine the genetic etiology of UBC in Pakistani population, for this 25 sequence variants from 17 candidate genes were studied in 400 individuals by using polymerase chain reaction-based techniques. Multivariate logistic regression analysis was performed for association analysis of the overall data as well as the data stratified by smoking status, tumor grade and tumor stage. Variants ofGSTM1, IGFBP3, LEPR andACE were found to be associated with altered UBC risk in the overall comparison.CYP1B1 andCDKN1A variants displayed a risk modulation among smokers;IGFBP3 andLEPR variants among non ­smokers whileGSTM1 polymorphism exhibited association with both.GSTM1 andLEPR variants conferred an altered susceptibility to low grade UBC;GSTT1, IGFBP3 andPPARG variants to high grade UBC whileACE polymorphism to both grades.GSTM1 andLEPR variants exhibited risk modulation for non-muscle-invasive bladder cancer (NMIBC);GSTT1 andPPARG variants for muscle-invasive bladder cancer (MIBC), andACE variant for NMIBC as well as MIBC. In general, the susceptibility markers were common for low grade and NMIBC; and distinct from those for high grade and MIBC indicating the distinct pathologies of both groups. In brief, our results conform to reports of previously associated variants in addition to identifying novel potential genetic predictors of UBC susceptibility.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research