Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci.

Background: Ulcerative colitis (UC), a complex polygenic disorder, is one of the main subphenotypes of inflammatory bowel disease. A comprehensive dissection of the genetic etiology of UC needs to assess the contribution of rare genetic variants including copy number variations (CNVs) to disease risk. In this study, we performed a multi-step genome-wide case-control analysis to interrogate the presence of disease-relevant rare copy number variants.

Role of PTEN gene in progression of prostate cancer.

Introduction: The aim of this study was to clarify the role of PTEN gene in progression of prostate cancer.

Materials And Methods: A total of 51 formalin-fixed paraffin-embedded specimens of prostate cancer were analyzed for PTEN mutations. Tissue microdissection and polymerase chain reaction/single-strand conformation polymorphism methods were used.