QIMR Berghofer

An Extremes of Phenotype Approach Confirms Significant Genetic Heterogeneity in Patients with Ulcerative Colitis

Abstract

Background and Aims: Ulcerative colitis [UC] is a major form of inflammatory bowel disease globally. Phenotypic heterogeneity is defined by several variables including age of onset and disease extent. The genetics of disease severity remains poorly understood. To further investigate this, we performed a genome wide association [GWA] study using an extremes of phenotype strategy.

Authors Mortlock, Sally; Lord, Anton; Montgomery, Grant; Zakrzewski, Martha; Simms, Lisa A.; Krishnaprasad, Krupa; Hanigan, Katherine; Doecke, James D.; Walsh, Alissa; Lawrance, Ian C.; Bampton, Peter A.; Andrews, Jane M.; Mahy, Gillian; Connor, Susan J.; Sparrow, Miles P.; Bell, Sally; Florin, Timothy H.; Begun, Jakob; Gearry, Richard B.; Radford-Smith, Graham L.
Journal Journal of Crohns & Colitis
Pages
Volume
Date 1/01/2022
Grant ID
Funding Body
URL http://www.ncbi.nlm.nih.gov/pubmed/?term=10.1093/ecco-jcc/jjac121