Yakup Ülger1, Ersin Akgöllü2. 1. Department of Gastroenterology, Çukurova University School of Medicine, Turkey. 2. Department of Pharmacy Services, Ağrı İbrahim Çeçen University, Patnos Vocational School, Turkey.
Abstract
BACKGROUND/AIMS: Ulcerative colitis (UC) is a chronic disease that does not have a definitive treatment and causes repetitive inflammation of the colon and impaired quality of life. The FOXP3 gene codes FOXP3 protein responsible for development and function of regulatory T (Treg) cells. The rs2232365 A/G and the rs3761548 A/C polymorphisms of FOXP3 gene were indicated to be associated with inflammation-related diseases such as ulcerative colitis. The effectiveness of Treg cells, which act as immune-suppressors in the control of inflammation, can be affected by these polymorphisms. The aim of the present study was to evaluate the association between these polymorphisms with ulcerative colitis. MATERIALS AND METHODS: The current study researched the FOXP3 gene polymorphisms in 146 patients with UC and in 292 healthy individuals by a real-time polymerase chain reaction (RT-PCR). RESULTS: The patients with rs2232365 G allele had a 1.44-fold higher UC risk than patients carrying other allele (P=0.013), and had significantly a 2.56-fold higher risk for extent of UC (P=0.001). Contrary, rs3761548 polymorphism didn't reach statistically significant in any analysis. CONCLUSION: This is the first study to reveal the relationship of the rs2232365 and the rs3761548 polymorphisms with ulcerative colitis in Caucasian population. The rs2232365 has an important effect on the risk of UC. The current study suggests that these polymorphisms should be explored together with the FOXP3 expression and FOXP3+ Treg cell count in blood and colon tissue of UC patients to clarify the exact effect of FOXP3 polymorphisms on UC risk.
BACKGROUND/AIMS: Ulcerative colitis (UC) is a chronic disease that does not have a definitive treatment and causes repetitive inflammation of the colon and impaired quality of life. The FOXP3 gene codes FOXP3 protein responsible for development and function of regulatory T (Treg) cells. The rs2232365 A/G and the rs3761548 A/C polymorphisms of FOXP3 gene were indicated to be associated with inflammation-related diseases such as ulcerative colitis. The effectiveness of Treg cells, which act as immune-suppressors in the control of inflammation, can be affected by these polymorphisms. The aim of the present study was to evaluate the association between these polymorphisms with ulcerative colitis. MATERIALS AND METHODS: The current study researched the FOXP3 gene polymorphisms in 146 patients with UC and in 292 healthy individuals by a real-time polymerase chain reaction (RT-PCR). RESULTS: The patients with rs2232365 G allele had a 1.44-fold higher UC risk than patients carrying other allele (P=0.013), and had significantly a 2.56-fold higher risk for extent of UC (P=0.001). Contrary, rs3761548 polymorphism didn't reach statistically significant in any analysis. CONCLUSION: This is the first study to reveal the relationship of the rs2232365 and the rs3761548 polymorphisms with ulcerative colitis in Caucasian population. The rs2232365 has an important effect on the risk of UC. The current study suggests that these polymorphisms should be explored together with the FOXP3 expression and FOXP3+ Treg cell count in blood and colon tissue of UC patients to clarify the exact effect of FOXP3 polymorphisms on UC risk.
Authors: Jeffrey C Barrett; Sarah Hansoul; Dan L Nicolae; Judy H Cho; Richard H Duerr; John D Rioux; Steven R Brant; Mark S Silverberg; Kent D Taylor; M Michael Barmada; Alain Bitton; Themistocles Dassopoulos; Lisa Wu Datta; Todd Green; Anne M Griffiths; Emily O Kistner; Michael T Murtha; Miguel D Regueiro; Jerome I Rotter; L Philip Schumm; A Hillary Steinhart; Stephan R Targan; Ramnik J Xavier; Cécile Libioulle; Cynthia Sandor; Mark Lathrop; Jacques Belaiche; Olivier Dewit; Ivo Gut; Simon Heath; Debby Laukens; Myriam Mni; Paul Rutgeerts; André Van Gossum; Diana Zelenika; Denis Franchimont; Jean-Pierre Hugot; Martine de Vos; Severine Vermeire; Edouard Louis; Lon R Cardon; Carl A Anderson; Hazel Drummond; Elaine Nimmo; Tariq Ahmad; Natalie J Prescott; Clive M Onnie; Sheila A Fisher; Jonathan Marchini; Jilur Ghori; Suzannah Bumpstead; Rhian Gwilliam; Mark Tremelling; Panos Deloukas; John Mansfield; Derek Jewell; Jack Satsangi; Christopher G Mathew; Miles Parkes; Michel Georges; Mark J Daly Journal: Nat Genet Date: 2008-06-29 Impact factor: 38.330
Authors: L Peyrin-Biroulet; W Sandborn; B E Sands; W Reinisch; W Bemelman; R V Bryant; G D'Haens; I Dotan; M Dubinsky; B Feagan; G Fiorino; R Gearry; S Krishnareddy; P L Lakatos; E V Loftus; P Marteau; P Munkholm; T B Murdoch; I Ordás; R Panaccione; R H Riddell; J Ruel; D T Rubin; M Samaan; C A Siegel; M S Silverberg; J Stoker; S Schreiber; S Travis; G Van Assche; S Danese; J Panes; G Bouguen; S O'Donnell; B Pariente; S Winer; S Hanauer; J-F Colombel Journal: Am J Gastroenterol Date: 2015-08-25 Impact factor: 10.864