Türkiye’deki postmenopozal kadınlarda osteoprotegerin A163G ve T245G gen polimorfizmleri ile kemik mineral yoğunluğu arasındaki ilişkinin analizi

Amaç: Osteoprotegerin (OPG), osteoporoza yatkınlık ile ilgili en önemli aday genlerden biridir. Bu çalışmanın amacı postmenopozal kadınlarda OPG promoter bölgesindeki A163G ve T245G polimorfizmleri ile kemik mineral yoğunluğu (KMY) arasındaki ilişkinin değerlendirilmesidir.Gereç ve Yöntemler: Çalışmaya primer postmenopozal osteoporozlu 109 gönüllü hasta ve kontrol grubu olarak 85 sağlıklı kadın olacak şekilde toplam 194 kişi dahil edilmiştir. L1, L4, total lomber vertebra (L1-4), boyun, kalça ve total kalça KMY değerleri dual enerji X-ışını absorbsiyometrisi (DEXA) yöntemiyle değerlendirilmiştir. OPG promoter bölgesindeki A163G ve T245G polimorfizmleri polimeraz zincir reaksiyonu (PCR) ve restriksiyon parça uzunluğu polimorfizmi (RFLP) kullanılarak belirlenmiştir.Bulgular: Postmenopozal kadınlarda genotip frekansları A163G polimorfizmi için AG+GG (%46,8), AA (%53,2); T245G için GG+TG (%36,7), TT (%63,3) olarak kaydedilmiştir. Sağlıklı kadınlara kıyasla, osteoporozlu kadınlar arasında AG+GG (p=0,005) ve GG+TG (p=0,049) genotipleri belirgin şekilde daha yaygın bulunmuştur. Postmenopozal kadınlarda ve kontrollerde sırasıyla T245G ve A163G polimorfizmleri için genotipler ile lomber vertebra KMY değerleri arasında önemli bir ilişki olduğu saptanmıştır (sırasıyla p˂0.05, p˂0.05, p˂0.05 ve p˂0.05). T245G polimorfizmi için GG+TG genotipleri TT genotipine kıyasla daha düşük KMY ile ilişkili bulunmuştur. Benzer şekilde, A163G polimorfizmi için de AG+GG genotipleri AA genotipine kıyasla daha düşük KMY ile ilişkilendirilmiştir. Sonuç: Bu çalışmada elde edilen bulgular, OPG promoter bölgesindeki T245G ve A163G polimorfizmlerinin KMY’nin genetik düzenlenmesine katkıda bulunabileceğini düşündürmektedir.  Bu bulgular, gelecekte yapılacak osteoporoz çalışmalarında OPG geninin rolü araştırılırken yararlı olacaktır.

Association analysis between A163G and T245G gene polymorphisms of osteoprotegerin and bone mineral density in Turkish postmenopausal women

Objectives:Osteoprotegerin (OPG) is a gene which is accepted as one of the leading factor causing osteoporosis. Evaluation of the relationship between bone mineral density (BMD) and two polymorphisms in the OPG promoter, namely A163G and T245G among postmenopausal women was the goal of this study. Material and methods: A total of 194 women, 109 with postmenopausal osteoporosis and 85 healthy controls, were included in the study. Dual-energy X-ray absorptiometry was used to evaluate BMD of L1, L4, total lumbar spine (L1-4), neck, hip and total hip. A163G and T245G polymorphisms were determined by PCR and RFLP.Results: The frequencies of genotypes were as follows: AG+GG (46.8%), AA (53.2%) for A163G and GG+TG (36.7%), TT (63.3%) for T245G. Compared to healthy women, remarkably more women with osteoporosis were found to have AG+GG (p=0.005) and GG+TG (p=0.049). Significant associations were observed between the genotypes and BMD of the lumbar spine for the T245G and A163G polymorphisms in postmenopausal women and controls (p˂0.05 for all). The GG+TG genotypes correlated with lower BMD compared to TT for T245G. Similarly, for A163G, the AG+GG genotypes were related to in smaller amounts BMD compared to AA. Conclusion: The study findings indicate that genetic arrangement of BMD can be contributed by the  T245G and A163G polymorphisms in the OPG promoter. These results are expected to be beneficial for further studies investigating the role of OPG in osteoporosis.  

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