Rapid CommunicationsThe molecular classification of the clinical manifestations of Crohn's disease☆,☆☆
Section snippets
Participants
A total of 244 white patients with Crohn's disease were recruited from a single tertiary referral center. Diagnosis of Crohn's disease was based on standard clinical, radiologic, endoscopic, and histologic criteria. Phenotypic details were obtained on 2 occasions by retrospective case-note review between January and May 2001 by 2 investigators (T.A. and A.d.S). Any interobserver variation was resolved by discussion (Table 1 and Figure 1).
Results
A total of 244 patients with Crohn's disease and 354 control subjects were studied (Table 1). The mean age at presentation was 28.0 years and median duration of follow-up was 16.2 years. There was no significant difference in age, sex, or smoking history between patients and controls. Forty-eight (19.7%) reported a family history of Crohn's disease in a first- or second-degree relative. More than 1 site was involved in 68.8% of patients (Figure 1). Exclusively ileal, colonic, and perianal
Discussion
This study reports significant genetic associations with clinical manifestations of Crohn's disease by using a large and rigorously phenotyped cohort. Patients were ethnically homogeneous, from a single British referral center, and had been followed-up for a median time of 16 years. Clinical data collection was complete for all individuals. The most powerful finding was that NOD2/CARD15 polymorphisms are strong predictors of ileal disease, but are not associated with perianal or colonic
Acknowledgements
The authors thank the patients that participated in this study. The authors acknowledge the contributions of Heather Holt and Sue Goldthorpe for organization and collection of blood specimens, Matthew Neville for details of novel HLA class III polymorphisms, and Robert Walton for allowing us to use the OXCHECK samples.
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Address requests for reprints to: Tariq Ahmad, Gastroenterology Unit, Gibson Laboratories, University of Oxford, Radcliffe Infirmary, Woodstock Road, Oxford OX2 6QX, United Kingdom. e-mail: [email protected]; fax: (44) 0-1865-790792.
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Supported by a grant from the National Association of Crohn's and Colitis (NACC, UK) (to T.A.) and the Institute G. Toniolo di Studi Superiori (to A.A.).