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Article

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

BMC medical genetics - 1 Apr 2016

Saadati Hamid Reza, Wittig Michael, Helbig Ingo, Häsler Robert, Anderson Carl A, Mathew Christopher G, Kupcinskas Limas, Parkes Miles, Karlsen Tom Hemming, Rosenstiel Philip, Schreiber Stefan, Franke Andre

Abstract excerpt

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...

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Share to Colitis, Ulcerative

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to DNA Copy Number Variations

Share to Gene Deletion

Share to Gene Duplication

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Share to Genome-Wide Association Study

Source

Open in PubMed Open full text

Identifiers

PMID: 27037036
DOI: 10.1186/s12881-016-0289-z
PMCID: PMC4818401

Genes

ABCC4
CCZ1
CLDN10
KCNK9
OCM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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