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

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• 作者：Hamid Reza Saadati ; Michael Wittig ; Ingo Helbig ; Robert Häsler…
• 关键词：Ulcerative colitis ; Copy number variation ; Rare variants ; SNP array ; Case ; control association
• 刊名：BMC Medical Genetics
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：17
• 期：1
• 全文大小：1,881 KB
• 刊物主题：Human Genetics; Genetics and Population Dynamics;
• 出版者：BioMed Central
• ISSN：1471-2350

文摘

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.