CARD15 gene 3020insC mutation with inflammatory bowel diseases patients in the black sea region of Turkey

Abstract

BACKGROUND: The role of the CARD15 gene 3020insC frameshift mutation in the pathogenesis of inflammatory bowel diseases (IBD) investigated without a definitive conclusion. The incidence of this mutation in Turkish patients with Crohn’s disease is not known. OBJECTIVE: We investigated whether the CARD15/NOD2 3020insC frameshift mutation is a risk factor for patients with inflammatory bowel disease in Black Sea Region population in Turkey. METHODS: We studied 3020insC mutation of CARD15/NOD2 gene by allele-specific multiplex PCR in 69 patients with IBD (18 Crohn’s disease [CD] and 51 ulcerative colitis [UC]) and 101 ethnically matched healthy controls. RESULTS: CARD15/NOD2 3020insC frameshift mutation was positive in 7/18 (38.8 %), 13/51 (25.5 %), and 4/101 (4 %) of CD, UC, and healthy control groups, respectively. None of the controls or patients with Crohn’s disease and ulcerative colitis was homozygous for this mutations. CONCLUSION: This study is to investigate a relation between CARD15/NOD2 3020insC frameshift mutation and in patients with IBD in the Turkish Population. C-insertion frameshift mutation is a major contributor to the susceptibility to both CD and UC, but it is not specific to patients with CD in Turkish population.