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Osteoporoz ve İlişkili Genler: VDR, ESR ve COL1A1

Osteoporoz günümüzde gittikçe büyüyen önemli sağlık problemleri arasında yer almaktadır. Sistemik iskelet hastalığı olarak tanımlanan osteoporoz da düşük kemik kitlesi ve kemik dokusunun bozulması sonucunda kemik kırılganlığı artmaktadır. Kemik dokusu, yaşam boyunca osteoblastik kemik oluşumu ve osteoklastik kemik rezorbsiyonu işlemleri sırasında metabolik olarak oldukça aktiftir. Osteoblast ve osklastın birlikte hareketleri normal kemik yapısının oluşumu için önemlidir. Kemik homeostazisinin bozulması sonucunda kemik kitlesinin azalması osteoporoza ya da kemik minaralizasyonunda bir defekte neden olabilir. Genetiksel, hormonal, beslenme ve yaşam stilindeki değişiklikler kemik kitlesinin oluşumunda ve korunmasında rol oynar. Bu faktörler arasında yer alan genetik varyasyonlar populasyondaki kemik mineral yoğunluğundaki (BMD) varyasyonların %50-80’inden sorumludur. Osteoporoz ile ilişki çeşitli aday genlerle çalışmalar yapılmış olup en fazla Vitamin D reseptör (VDR), östrojen reseptör alfa (ESRα ve kollajen 1 alfa 1 zincir (Col1A1) genleri üzerinde durulmaktadır.
Anahtar Kelimeler:

Kollajen 1 alfa 1 zincir geni (Col1A1), Osteoporoz, Östrojen reseptör alfa (ESR&#945, geni, Vitamin D reseptör geni (VDR)

Osteoporosis and Related Genes: VDR, ESR And COL1A1

Osteoporosis is now considered as one of the major and growing health care problems around the world. Osteoporosis is the most prevalent metabolic bone disease among developed countries and it is defined as a systemic skeletal disease characterized by low bone mass and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. Bone is a highly metabolically active tissue in which the processes of osteoblastic bone formation and osteoclastic bone resorption are continuous throughout life. Coupling of osteoblast and osteoclast action ensures that a normal bone structure is maintained. A loss of bone homeostasis may result in a decrease in bone mass leading to osteoporosis or in a defect in the mineralization of bone. Numerous genetic, hormonal, nutritional and life-style factors contribute to the acquisition and maintenance of bone mass. Among them, genetic variations explain as much as 50-80% of the variance for bone mineral density (BMD) in the population. Many genes that could be related to osteoporosis have been studied and of them all Vitamin D receptor (VDR), estrogen receptor alpha (ESRα) and collagen 1 alpha 1 chain (COL1A1) genes have been the most focused on.
Keywords:

Collagen 1 alpha 1 chain (COL1A1), Estrogen receptor alpha (ESRα) gene, Osteoporosis, Vitamin D receptor gene (VDR),

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Arşiv Kaynak Tarama Dergisi-Cover
  • ISSN: 1300-3755
  • Yayın Aralığı: Yılda 4 Sayı
  • Başlangıç: 1992
  • Yayıncı: Çukurova Üniversitesi Tıp Fakültesi
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Erkek İnfertilitesinin Sitogenetiği

Lütfiye ÖZPAK, Ayfer PAZARBAŞI

Osteoporoz ve İlişkili Genler: VDR, ESR ve COL1A1

Sabriye Kocatürk SEL, Halil KASAP