here - Malaysian Society of Colorectal Surgeons

P O S T E R 2 6THE IDENTIFICATION OF NOD2/CARD15 MUTATIONS INMALAYSIAN PATIENTS WITH CROHN’S DISEASEKek Heng Chua 1 , Ida Hilmi 2 , Ching Ching Ng 3 , Tzy Lui Eng 3 , Shanthi Palaniappan 4 , Way Seah Lee 5 ,Khean-Lee Goh 21Department of Molecular Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia2Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia3Institute of Biological Sciences, University of Malaya, Kuala Lumpur, Malaysia4Department of Medicine, Ipoh General Hospital, Ipoh, Perak, Malaysia5Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, MalaysiaI N T R O D U C T I O NThe NOD2/CARD15 gene is identified as an important susceptibility gene for Crohn’s disease (CD) andthe aim of our study was to look for the common disease predisposing mutations (DPMs) in ourmultiracial population.M E T H O D SBlood samples from consecutive CD patients and healthy controls were obtained and analyzed for thethree common mutations (R702W, G908R, 1007fs) but we also looked for the SNP5 and JW1 variantswhich are associated with CD in the Ashkenazi Jews. PCR-RFLP technique was used to identify themutations which were confirmed by sequencing. Baseline demography and clinical characteristics of theCD patients were recorded.R E S U LT S45 patients with confirmed CD and 300 controls were recruited. The three common DPMs were notobserved in either the CD patients or the controls. However, the SNP5 mutation was identified in6 (13.3%) CD patients and the JW1 mutation in 8 (17.8%) different patients which were not found in thecontrols. (p