Genetic association of vitamin D receptor polymorphisms with primary biliary cirrhosis

Öz

Background and Aims: Primary biliary cirrhosis is a chronic cholestatic autoimmune liver disease. Genetic factors appear to be involved in the pathogenesis of primary biliary cirrhosis. 1,25 dihydroxyvitamin D3, is a secosteroid hormone that mediates its effects through the vitamin D receptor. A few polymorphisms have been defined in the vitamin D receptor gene so far. Autoimmune diseases have been found to be associated with vitamin D receptor gene polymorphisms. We evaluated the relationship between vitamin D receptor gene polymorphisms and primary biliary cirrhosis. Materials and Methods: Primary biliary cirrhosis patients who were treated in the Atatürk Research and Teaching Hospital Gastroenterology Department, from 2007-2012 are included. The study group included 16 primary biliary cirrhosis patients and 28 healthy people. Biliary obstruction was excluded using imaging modalities. Of the 16 patients, 13 had liver biopsies consistent with primary biliary cirrhosis. There were no concomitant liver diseases. Vitamin D receptor genotyping was done by the polymerase chain reaction–restriction fragment length polymorphism with BsmI, ApaI, and TaqI endonucleases. Results: Of the 16 patients, 14 were female. The average age was 58.4±6.6 years. Control group patients were age- and gender-matched. No differences in vitamin D receptor gene BsmI, ApaI, and TaqI polymorphisms were found between the primary biliary cirrhosis and control groups. Conclusion: We did not find any relationship between vitamin D receptor gene BsmI, ApaI, and TaqI polymorphisms and primary biliary cirrhosis.

Anahtar Kelimeler

• Polymorphisms,primary biliary cirrhosis,vitamin D receptor

Vitamin D reseptör gen polimorfizmi ile primer biliyer siroz ilişkisi

Öz

Giriş ve Amaç: Primer biliyer siroz, kronik kolestatik otoimmün karaciğer hastalığıdır. Primer biliyer sirozun patogenezinde genetik faktörler rol oynamaktadır. 1,25-dihidroksivitamin D3 (1,25(OH)2D3), sekosteroid hormondur. 1,25(OH)2D3 etkilerini vitamin D reseptör aracılığı ile gösterir. Vitamin D reseptör geninde birkaç polimorfizm bildirilmişdir. Bazı otoimmün hastalıklar vitamin D reseptör gen polimorfizmi ile ilişkili bulunmuştur. Biz bu çalışmada primer biliyer siroz ile vitamin D reseptör gen polimorfizminin ilişkisini değerlendirdik. Gereç ve Yöntem: Atatürk Eğitim ve Araştırma Hastanesi Gastoenteroloji Kliniği’nde, 2007-2012 yılları arasında primer biliyer siroz tanısı ile takip edilmekte olan hastalar alındı. Çalışmaya 16 primer biliyer siroz ve 28 sağlıklı gönüllü dahil edildi. Biliyer obstrüksiyon varlığı görüntüleme yöntemleri ile ekarte edildi. 16 hastanın 13’ünde karaciğer biyopsisi vardı ve primer biliyer siroz ile uyumlu idi. Eşlik eden başka karaciğer hastalığı yoktu. Vitamin D reseptör genotiplendirilmesi; BsmI, ApaI, TaqI endonükleazları kullanılarak polimerize zincir reaksiyonu-restriksiyon parçacık uzunluk polmorfizmi ile yapıldı. Bulgular: Hastaların 14’ü kadın, 2’si erkekdi. Hastaların yaş ortalaması 58,4±6,6 idi. Kontrol grubu yaş ve cinsiyet olarak denkti. Vitamin D reseptör gen BsmI, ApaI, TaqI polimorfizmlerinin primer biliyer siroz ve konrol grubunda farklı olmadığı görüldü. Sonuç: Biz bu çalışmada, primer biliyer siroz ile vitamin D reseptör gen BsmI, ApaI, TaqI polimorfizmleri arasında ilişki saptamadık.

Anahtar Kelimeler

• Polimorfizm,primer biliyer siroz,vitamin D reseptör

Kaynakça

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