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

ABSTRACT:

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.

Methods

One thousand one hundred twenty-one German UC patients and 1770 healthy controls were initially screened for rare deletions and duplications employing SNP-array data. Quantitative PCR and high density custom array-CGH were used for validation of identified CNVs and fine mapping. Two main follow-up panels consisted of an ind

SUBMITTER: Saadati HR 

PROVIDER: S-EPMC4818401 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature