Bhullar M, Macrae F, Brown G, Smith M, Sharpe K. Prediction of Crohn’s disease aggression through NOD2/CARD15 gene sequencing in an Australian cohort. World J Gastroenterol 2014; 20(17): 5008-5016 [PMID: 24803813 DOI: 10.3748/wjg.v20.i17.5008]
Corresponding Author of This Article
Maneesha Bhullar, MBBS, MedSc, Department of Colorectal Medicine and Genetics, 3 Centre, The Royal Melbourne Hospital, Grattan St, Parkville 3052, Australia. maneesha.bhullar@mh.org.au
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Brief Article
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Gastroenterol. May 7, 2014; 20(17): 5008-5016 Published online May 7, 2014. doi: 10.3748/wjg.v20.i17.5008
Prediction of Crohn’s disease aggression through NOD2/CARD15 gene sequencing in an Australian cohort
Maneesha Bhullar, Finlay Macrae, Gregor Brown, Margie Smith, Ken Sharpe
Maneesha Bhullar, Finlay Macrae, Gregor Brown, Department of Colorectal Medicine and Genetics, 3 Centre, The Royal Melbourne Hospital, Parkville 3052, Australia
Margie Smith, Department of Molecular Genetics, CMR Room 204, Pathology, The Royal Melbourne Hospital, Parkville 3052, Australia
Ken Sharpe, Department of Statistics, University of Melbourne, Parkville 3050, Australia
Author contributions: Bhullar M and Macrae F recruited the patients and wrote the manuscript; Bhullar M, Macrae F and Brown G designed the study methodology; Smith M conducted the genetic sequencing and interpretation of the genetic material; Sharpe K performed the statistical analysis of the data.
Supported by Schering Plough
Correspondence to: Maneesha Bhullar, MBBS, MedSc, Department of Colorectal Medicine and Genetics, 3 Centre, The Royal Melbourne Hospital, Grattan St, Parkville 3052, Australia. maneesha.bhullar@mh.org.au
Telephone: +61-4-21205039 Fax: +61-4-67728130
Received: April 25, 2013 Revised: September 12, 2013 Accepted: September 16, 2013 Published online: May 7, 2014
Core Tip
Core tip: This study conducted a full gene sequencing of nNucleotide-binding oligomerisation domain 2/caspase recruitment domains 15 (NOD2/CARD15) within an Australian cohort of patient with Crohn’s disease (CD). In this study, there was a trend to suggest that patients with the 3020insC mutation have a higher frequency of operations compared to those without the mutation. Patients with the 3020insC mutation had a significantly shorter time between the diagnosis of CD and initial surgery. The clinical significance of understanding pathogenic NOD2/CARD15 mutations is to shift management to a top down approach whereby active medical therapy could be introduced at an early stage to impact on aggressive disease behaviour in mutation positive patients.
