AIM: To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and ulcerative colitis (UC), we investigated the single nucleotide polymorphisms (SNPs) of NOD2/CARD15 (R702W, G908R and L1007finsC), and Toll-like receptor 4 (TLR4) genes (D299G and T399I) in a selected inflammatory bowel disease (IBD) population coming from Southern Italy. METHODS: Allele and genotype frequencies of NOD2/CARD15 (R702W, G908R and L1007finsC) and TLR4 (D299G and T399I) SNPs were examined in 133 CD patients, in 45 UC patients, and in 103 healthy controls. A genotype-phenotype correlation was performed. RESULTS: NOD2/CARD15 R702W mutation was significantly more frequent in CD (9.8%) than in controls (2.4%, P = 0.001) and in UC (2.3%, P = 0.03). No significant difference was found between UC patients and control group (P > 0.05). In CD and UC patients, no significant association with G908R variant was found. L1007finsC SNP showed an association with CD (9.8%) compared with controls (2.9%, P = 0.002) and UC patients (2.3%, P = 0.01). Moreover, in CD patients, G908R and L1007finsC mutations were significantly associated with different phenotypes compared to CD wild-type patients. No association of IBD with the TLR4 SNPs was found in either cohort (allele frequencies: D299G-controls 3.9%, CD 3.7%, UC 3.4%, P > 0.05; T399I-controls 2.9%, CD 3.0%, UC 3.4%, P > 0.05). CONCLUSION: These findings confirm that, in our IBD patients selected from Southern Italy, the NOD2/CARD15, but not TLR4 SNPs, are associated with increased risk of CD.
AIM: To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and ulcerative colitis (UC), we investigated the single nucleotide polymorphisms (SNPs) of NOD2/CARD15 (R702W, G908R and L1007finsC), and Toll-like receptor 4 (TLR4) genes (D299G and T399I) in a selected inflammatory bowel disease (IBD) population coming from Southern Italy. METHODS: Allele and genotype frequencies of NOD2/CARD15 (R702W, G908R and L1007finsC) and TLR4 (D299G and T399I) SNPs were examined in 133 CD patients, in 45 UC patients, and in 103 healthy controls. A genotype-phenotype correlation was performed. RESULTS:NOD2/CARD15R702W mutation was significantly more frequent in CD (9.8%) than in controls (2.4%, P = 0.001) and in UC (2.3%, P = 0.03). No significant difference was found between UC patients and control group (P > 0.05). In CD and UC patients, no significant association with G908R variant was found. L1007finsC SNP showed an association with CD (9.8%) compared with controls (2.9%, P = 0.002) and UC patients (2.3%, P = 0.01). Moreover, in CD patients, G908R and L1007finsC mutations were significantly associated with different phenotypes compared to CD wild-type patients. No association of IBD with the TLR4 SNPs was found in either cohort (allele frequencies: D299G-controls 3.9%, CD 3.7%, UC 3.4%, P > 0.05; T399I-controls 2.9%, CD 3.0%, UC 3.4%, P > 0.05). CONCLUSION: These findings confirm that, in our IBD patients selected from Southern Italy, the NOD2/CARD15, but not TLR4 SNPs, are associated with increased risk of CD.
Authors: C Gasche; J Scholmerich; J Brynskov; G D'Haens; S B Hanauer; E J Irvine; D P Jewell; D Rachmilewitz; D B Sachar; W J Sandborn; L R Sutherland Journal: Inflamm Bowel Dis Date: 2000-02 Impact factor: 5.325
Authors: Georgia E Hume; Elizabeth V Fowler; James Doecke; Lisa A Simms; Ning Huang; Orazio Palmieri; Lyn R Griffiths; Timothy H J Florin; Vito Annese; Graham L Radford-Smith Journal: Inflamm Bowel Dis Date: 2008-05 Impact factor: 5.325
Authors: Tariq Ahmad; Alessandro Armuzzi; Mike Bunce; Kim Mulcahy-Hawes; Sara E Marshall; Timothy R Orchard; Jonathan Crawshaw; Oliver Large; Arjuna de Silva; Julia T Cook; Martin Barnardo; Sue Cullen; Ken I Welsh; Derek P Jewell Journal: Gastroenterology Date: 2002-04 Impact factor: 22.682
Authors: Steven R Brant; Michael F Picco; Jean-Paul Achkar; Theodore M Bayless; Sunanda V Kane; Aaron Brzezinski; Franklin J Nouvet; Denise Bonen; Amir Karban; Themistocles Dassopoulos; Reda Karaliukas; Terri H Beaty; Stephen B Hanauer; Richard H Duerr; Judy H Cho Journal: Inflamm Bowel Dis Date: 2003-09 Impact factor: 5.325
Authors: M Sugimura; Y Kinouchi; S Takahashi; H Aihara; S Takagi; K Negoro; N Obana; Y Kojima; K Matsumoto; T Kikuchi; M Hiroki; S Oomori; T Shimosegawa Journal: Clin Genet Date: 2003-02 Impact factor: 4.438
Authors: Maria T Abreu; Kent D Taylor; Ying-Chao Lin; Tieu Hang; Joanne Gaiennie; Carol J Landers; Eric A Vasiliauskas; Lori Y Kam; Micha Rojany; Konstantinos A Papadakis; Jerome I Rotter; Stephan R Targan; Huiying Yang Journal: Gastroenterology Date: 2002-09 Impact factor: 22.682
Authors: Andrew P Cuthbert; Sheila A Fisher; Muddassar M Mirza; Kathy King; Jochen Hampe; Peter J P Croucher; Silvia Mascheretti; Jeremy Sanderson; Alastair Forbes; John Mansfield; Stefan Schreiber; Cathryn M Lewis; Christopher G Mathew Journal: Gastroenterology Date: 2002-04 Impact factor: 22.682
Authors: Manuel Alvarez-Lobos; Daniela P Pizarro; Christian E Palavecino; Abner Espinoza; Valentina P Sebastián; Juan C Alvarado; Patricio Ibañez; Carlos Quintana; Orlando Díaz; Alexis M Kalergis; Susan M Bueno Journal: World J Gastroenterol Date: 2013-09-21 Impact factor: 5.742
Authors: Paulo Freire; Ricardo Cardoso; Pedro Figueiredo; Maria M Donato; Manuela Ferreira; Sofia Mendes; Ana Margarida Ferreira; Helena Vasconcelos; Francisco Portela; Carlos Sofia Journal: Int J Colorectal Dis Date: 2014-03-22 Impact factor: 2.571
Authors: Yolanda F M Tolentino; Paula Peruzzi Elia; Homero Soares Fogaça; Antonio José V Carneiro; Cyrla Zaltman; Rodrigo Moura-Neto; Ronir Raggio Luiz; Maria da Gloria C Carvalho; Heitor S de Souza Journal: Dig Dis Sci Date: 2016-04-23 Impact factor: 3.199
Authors: Kathryn T Chen; Madhu S Malo; Angela K Moss; Skye Zeller; Paul Johnson; Farzad Ebrahimi; Golam Mostafa; Sayeda N Alam; Sundaram Ramasamy; H Shaw Warren; Elizabeth L Hohmann; Richard A Hodin Journal: Am J Physiol Gastrointest Liver Physiol Date: 2010-05-20 Impact factor: 4.052
Authors: Josef Wagner; Winnie H Sim; Justine A Ellis; Eng K Ong; Anthony G Catto-Smith; Donald J S Cameron; Ruth F Bishop; Carl D Kirkwood Journal: PLoS One Date: 2010-11-08 Impact factor: 3.240