ISSN 2167-0404
International Journal of Medicine and Medical Sciences Vol. 1(1), pp. 004-011, 27 November, 2011, ISSN: 2167-0404 © International Scholars Journals
Full Length Research Paper
CARD15/NOD2 polymorphisms differ among Polish Crohn’s disease (CD) and differentiated thyroid cancer (DTC) patients
Ludwika Jakubowska-Burek1, Marta Kaczmarek-Rys2, Justyna Hoppe-Golebiewska2, Elzbieta Kaczmarek3, Marcin A. Kucharski1, Szymon Hryhorowicz4, Ryszard Slomski2,5, Jerzy Sowinski6, Krzysztof Linke1, Katarzyna Ziemnicka6, Agnieszka Dobrowolska-Zachwieja1
1 Department of Gastroenterology, Human Nutrition and Internal Diseases, Poznan University of Medical Sciences, Przybyszewskiego 49, 60-355 Poznan, Poland
2Institute for Human Genetics Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland
3Department of Bioinformatics and Computational Biology , Poznan University of Medical Sciences, Dabrowskiego 79, 60-529 Poznan, Poland
4 The NanoBioMedical Centre, Adam Mickiewicz University in Poznan, ul. Umultowska 85, 61-614 Poznań, Poland
5Department of Biochemistry and Biotechnology, University of Natural Sciences in Poznan, Wolynska 35, 60-637 Poznan, Poland
6Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, Przybyszewskiego 49, 60-355 Poznan, Poland
*Corresponding Author’s Email: [email protected]
Received 27 October 2011; Accepted 20 November, 2011
Abstract
Recent studies proved that mutations in the CARD15/NOD2 gene can increase the risk for different malignancies, e.g. bowel, lung and breast cancer. Although many correlations between CARD15/NOD2 and malignancies have been investigated, so far no association between inflammatory bowel diseases and differentiated thyroid cancer (DTC) among Polish patients have been done. The aim of this study was to investigate two polymorphisms in CARD15/NOD2 gene: rs2066842 (p.Pro268Ser, c.802C>T), rs2066845 (p.Gly908Arg, c.2722G>C) and one frameshift mutation rs5743293 (p.Leu1007fsinsC, c.3019_3020insC) among two groups of patients: Crohn’s disease and differentiated thyroid cancer. A total of 591 individuals were enrolled in this study: 193 DTC patients (35 men and 158 women), 185 CD patients (96 women, 89 men) and 213 individuals in population group (107 male and 106 female). Genotyping and statistical analysis for all the investigated individuals was performed. This study confirmed the results obtained in previous investigations about the role of CARD15/NOD2 gene in CD, but did not revealed relations between CARD15/NOD2 gene and DTC.
Key Words: inflammatory bowel diseases, differentiated thyroid cancer, CARD15/NOD2