CARD15 Gene 3020insC Mutation with Inflammatory Bowel Diseases Patients in the Black Sea Region of Turkey

Ilhami Gok; Fahri Ucar; Orhan Ozgur; Altay Celebi; Omer SentÃ¼rk; Sadettin Hulagu

doi:10.3889/oamjms.2014.033

Authors

Ilhami Gok Department of Bioengineering, Faculty of Engineering & Architecture, Kafkas University, Kars
Fahri Ucar Departments of Medical Biology & Genetics, School of Medicine, Akdeniz University, Antalya
Orhan Ozgur Department Internal Medicine, Divisions of Gastroenterology Karadeniz Technical University, Trabzon
Altay Celebi Department Internal Medicine, Division of Gastroenterology, School of Medicine, Kocaeli University, Kocaeli
Omer SentÃ¼rk Department Internal Medicine, Division of Gastroenterology, School of Medicine, Kocaeli University, Kocaeli
Sadettin Hulagu Department Internal Medicine, Division of Gastroenterology, School of Medicine, Kocaeli University, Kocaeli

DOI:

https://doi.org/10.3889/oamjms.2014.033

Keywords:

Inflammatory Bowel Diseases, Card15 Gene Mutation, Black Sea Region population, 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 Crohnâ€™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 Crohnâ€™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 Crohnâ€™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.

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