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Journals / Akademik Gastroenteroloji Dergisi / 2017 / Cilt: 16 Sayı: 3

Genetic association of vitamin D receptor polymorphisms with primary biliary cirrhosis

Vitamin D reseptör gen polimorfizmi ile primer biliyer siroz ilişkisi

Fatma Ebru Akın(ANKARA ATATÜRK EĞİTİM VE ARAŞTIRMA HASTANESİ, GASTROENTEROLOJİ)0000-0002-5934-2334
Gülay Güleç Ceylan(YILDIRIM BEYAZIT ÜNİVERSİTESİ, TIP FAKÜLTESİ, DAHİLİ TIP BİLİMLERİ BÖLÜMÜ, TIBBİ GENETİK ANABİLİM DALI)
Aylin Demirezer Bolat0000-0003-4465-9977
Öykü Tayfur Yürekli0000-0002-1295-152X
Mustafa Tahtacı0000-0003-4046-3715
Eyüp Selvi
Naciye Şemnur Büyükaşık0000-0002-2396-2267
Osman Ersoy0000-0002-1364-5962
Pages
106–109
Publication Date
2017-11-20
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Conclusion: We did not find any relationship  between vitamin D receptor gene BsmI, ApaI, and TaqI polymorphisms  and primary biliary cirrhosis.

📌 3 Key Takeaways

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Objective & Hypothesis:Background and Aims: Primary biliary cirrhosis is a chronic cholestatic  autoimmune liver disease.
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Key Findings & Data: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.
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Conclusion & Impact:Conclusion: We did not find any relationship  between vitamin D receptor gene BsmI, ApaI, and TaqI polymorphisms  and primary biliary cirrhosis.
🔬Design:Araştırma Makalesi
📍Scope:2007-2012 Verileri
⚙️Variables:Polimorfizm · primer biliyer siroz · vitamin D reseptör

Abstract

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.

Özet

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.

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Cite This Article

Akın, F. E., Ceylan, G. G., Bolat, A. D., Yürekli, Ö. T., Tahtacı, M., Selvi, E., Büyükaşık, N. Ş., Ersoy, O. (2017). Genetic association of vitamin D receptor polymorphisms with primary biliary cirrhosis. Akademik Gastroenteroloji Dergisi, Cilt: 16 Sayı: 3, 106–109. https://doi.org/10.17941/agd.351668

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