Özlem ÖZTOPUZ, Fatma SILAN, Özlem COŞKUN, Ayla AKBAL

Ankilozan spondilitli hastalarda BMP-6 rs267196 ve rs267192 genetik polimorfizmi

Amaç: Kemik morfogenetik proteinlerinin BMP’ler çeşitli popülasyonlarda ankilozan spondilit AS ile ilişkili olduğu bildirilmiştir. Bu çalışmanın amacı, BMP-6 gen polimorfizminin rs267192 ve rs267196 AS ile ilişkisini belirlemek ve aralarındaki ilişkileri klinik ve laboratuvar verilerine dayanarak değerlendirmektir.Yöntem: Bu çalışma, Ağustos 2013 - Kasım 2013 tarihleri arasında Çanakkale Onsekiz Mart Üniversitesi Sağlık Uygulama ve Araştırma Hastanesi Fizik Tedavi ve Rehabilitasyon Polikliniğinde gerçekleştirilmiştir. 42 AS hastası ve 58 sağlıklı kontrol BMP-6 rs267192 ve rs267196 polimorfizmi için ters transkripsiyonpolimeraz zincir reaksiyonu RT-PCR analizi ile kontrol edilmiştir. Klinik veriler olarak yaş, cinsiyet, vücut kitle indeksi, C-reaktif protein CRP , eritrosit sedimantasyon hızı, bath ankilozan spondilit hastalık aktivite indeksi BASDAI ve HLA-27 pozitifliği araştırılmıştır. BMP-6 polimorfizmi ile laboratuvar bulguları arasındaki ilişki değerlendirilmiştir. Bulgular: BMP-6 rs267196 için sırasıyla AA, AT ve TT genotiplerinin sıklığı AS hastalarında %9,5 n= 4 , %38,1 n= 16 ve %52,4 n= 22 ve kontrol grubunda %15,5 n = 9 , %44,8 n= 26 ve %39,7 n = 23 bulunmuştur. BMP-6 rs267196 A allel taşıyıcılar T alelline karşı 1,4 kat daha yüksek risk ve rs267192 T allel taşıyıcıları C alelline karşı AS için 1,08 kat daha yüksek risk taşıdığı görülmüştür. AS ile kontrol grupları arasında yaş, cinsiyet ve BMI değerleri açısından anlamlı bir fark bulunmamıştır. AS grubunun CRP ve sedimantasyon düzeyi kontrol grubundan anlamlı olarak yüksek olduğu görülmüştür p

Anahtar Kelimeler:

Ankilozan spondilit (AS), polimorfizm, kemik morfogenetik proteini (BMP-6)

Genetic polymorphism of BMP-6 gene rs267196 and rs267192 in patients with Ankylosing spondylitis

Objective: Bone morphogenetic proteins BMPs have been documented to be associated with ankylosing spondylitis AS in several populations. The goal of the present study was to determine the association of the BMP-6 gene polymorphism rs267192 and rs267196 with AS and to evaluate the relationships between them based on clinical and laboratory data.Methods: This study was conducted during August and November 2013 at the physical therapy and rehabilitation outpatient clinics of Çanakkale Onsekiz Mart University Research and Practice Hospital. 42 AS patients and 58 healthy controls were checked with reverse transcription-polymerase chain reaction RT-PCR analysis for BMP-6 rs267192 and rs267196 polymorphism. Clinical data as age, gender, body mass index, C-reactive protein CRP , erythrocyte sedimentation rate, bath ankylosing spondylitis disease activity index BASDAI , and HLA-27 positivity were assessed. It was evaluated the relationship between the BMP-6 polymorphism and laboratory findings.Results: The frequencies of AA, AT, and TT genotypes for BMP-6 rs267196 were 9.5% n=4 , 38.1% n=16 , and 52.4% n=22 in AS patients, and 15.5% n=9 , 44.8% n=26 , and 39.7% n=23 in controls respectively. BMP-6 rs267196 A allele carriers versus T ancient allele had 1.4-fold higher risk and rs267192 T allele carriers versus C ancient allele had 1.08-fold higher risk for AS. There was no significant difference between AS and control groups in terms of age, gender and BMI. The CRP and sedimentation levels of the AS group were significantly higher than the control group p

Keywords:

Ankylosing spondylitis (AS), polymorphism, bone morphogenetic protein 6 (BMP-6),

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