CARD15 Gene 3020insC Mutation with Inflammatory Bowel Diseases Patients in the Black Sea Region of Turkey
   
Yazarlar (6)
Gök İlhami
Ucar Fahri
Ozgur Orhan
Celebi Altay
Sentürk Omer
Hulagusadettin
Makale Türü Özgün Makale (Diğer hakemli uluslarası dergilerde yayınlanan tam makale)
Dergi Adı Macedonian Journal of Medical Sciences
Dergi Tarandığı Indeksler EBSCO
Makale Dili İngilizce Basım Tarihi 06-2014
Cilt / Sayı / Sayfa 7 / 2 / 215–218 DOI 10.3889/MJMS.1857-5773.2014.0406
Makale Linki http://www.mjms.mk/
Özet
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.
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