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Osteoporosis and Related Genes: VDR, ESR And COL1A1

Yıl 2011, Cilt: 20 Sayı: 4, 246 - 269, 01.12.2011

Öz

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.

Kaynakça

  • Uçan Ö, Taşcı S, Ovayolu N. Osteoporozda Risk Faktörleri ve Korunmanın Önemi. Fırat Sağlık Hizmetleri Dergisi, 2007;2(6):74-86.
  • Uslu H. Postmenopozal raloksifen HCL kullanımının serum homosisteini, lipid profili, koagülasyon profili ve kemik mineral yoğunluğu T skorları üzerine etkisi. Uzmanlık Tezi, T.C. Sağlık Bakanlığı Zeynep Kamil Kadın - Doğum ve Çocuk Hastalıkları Eğitim ve Araştırma Hastanesi, İstanbul, 2004. 3. http://www.humanity.ankara.edu.tr/timurmakale/B16.pdf (Erişim tarih: 01.2007) 4. Ferrari S L, Rizzoli R. Gene variants for osteoporosis and their pleiotropic effects in aging. Molecular Aspects of Medicine, 2005;26: 145–167.
  • Rizzoli R, Bonjour J P, Ferrari S L. Osteoporosis, genetics and hormones. Journal of Molecular Endocrinology, 2001; 26: 79–94.
  • Akın G, Gültekin T. Yaşlanma ve Osteoporoz, Yaşlı Sorunları Araştırma Dergisi, 2001;1(2).
  • Başaran S, Güzel R, Benlidayı İ C, Uysal F G. Osteoporozda Vitamin D Düzeyinin Yaşam Kalitesi Üzerine Etkisi. Osteoporoz Dünyasından, 2006; 12 (2): 35-38. 8. Sambrook P,Cooper C. Osteoporosis Seminar. Lancet, 2006; 367: 2010–18. 9. Şahin M, Demirağ N G. Osteoporoz: Tanı ve Tedavide Yenilikler. TOTBİD (Türk Ortopedi ve Travmatoloji Birliği Derneği) Dergisi, 2004;3(1).
  • Çay HF, Sezer N. Kemik Yapısı ve Kemik Döngüsü Üzerine Bir Derleme. Fiziksel Tıp, 2002; 5(3): 177-184.
  • Gürer N, Başak R, Bahadır C, et al. Kemik Mineral Yoğunluğu ile Kemik Döngüsünün Biyokimyasal Göstergelerinin İlişkisi. Türk Fiz Tıp Rehabilitasyon Dergisi 2005;51(2):54-57.
  • Aydil S. Osteoporozda Egzersiz Programının Solunum Fonksiyonlarına Ve Yaşam Kalitesine Etkisi. T.C. Sağlık Bakanlığı İstanbul 70.Yıl Fizik Tedavi Ve Rehabilitasyon Eğitim Ve Araştırma Hastanesi 2.Klinik, İstanbul, 2005.
  • Gennari L, Becherini L, Falchetti A, et al. Genetics of osteoporosis: role of steroid hormone receptor gene polymorphisms. The Journal of Steroid Biochemistry and molecular Biology, 2002; 81(1): 1-24.
  • Süsleyici- Duman B, Tanakol R, Erensoy N, et al. Vitamin D Receptor Alleles, Bone Mineral Density and Turnover in Postmenopausal Osteoporotic and Healthy Women. Med Princ Pract, 2004; 13:260–266.
  • Cooper GS, Umbach DM. Are vitamin D receptor polymorphisms associated with bone mineral density? A meta-analysis. J Bone Miner Res, 1996; 11:1841-1849.
  • Yaraman N, Çelik C, Karaoğlan B. Postmenopozal Kadınlarda Osteoporoz İle Çok Yönlü RiskFaktörlerinin Değerlendirilmesi. Fiziksel Tıp, 2002; 5(1): 23-26.
  • Ralston S H. Genetic Control of Susceptibility to Osteoporosis The Journal of Clinical Endocrinology & Metabolism, 2002; 87(6):2460–2466.
  • Kaya T, Günaydın R. Doruk Kemik Kütlesi. Heredite ve Değiştirilebilen Faktörlerin Rolü. Türk Osteoporoz Dünyasından, 2003; 9(1):33-36.
  • Giguere Y, Rousseau F. The genetics of osteoporosis: complexities and difficulties. Clinical Genetics, 2000: 161–169.
  • Duncan E L, Matthew A B.Genetic Determinants of Bone Density and Fracture Risk—State of the Art and Future Directions. J Clin Endocrinol Metab, 2010; 95: 2576–2587.
  • Ferrari S. Human genetics of osteoporosis. Best Practice & Research Clinical Endocrinology & Metabolism, 2008;5(22): 723–735.
  • Gençosmanoğlu B E, Eryavuz M. Osteoporozda Genetik Yaklaşım. Osteoporoz Dünyasından 2001; 7: 101-105.
  • Ralston SH. Genetic Determinants of Bone Mass and Osteoporotic Fracture. Principles of Bone Biology, 2008; 75(3): 1611-1634.
  • Aerssens J, Dequeker J, Peeters J, et al. Polymorphisms of the VDR, ER and COL1A1 Genes and Osteoporotic Hip Fracture in Elderly Postmenopausal Women. Osteoporos Int, 2000; 11: 583-591.
  • http://zehirlenme.blogspot.com/2010/10/polimorfizm-nedir.html (Erişim Tarih: 25.10.2011)
  • Özdemir-Erdoğan M, Postmenopozal Kadınlarda Kemik Mineral Yoğunluğu ile Östrojen Reseptör Alfa Ve Kollajen Tip I Alfa 1 Gen Polimorfizmlerinin İlişkisi. Doktora Tezi, Eskişehir Osmangazi Üniversitesi , Eskişehir, 2008.
  • Dayangaç D, Özaydın E, Özbaş-Gerçeker F, et al. Sağlıklı Türk Populasyonunda Vitamin D Reseptör (VDR) Gen Polimorfizm Analizi. Türk Biyokimya Dergisi, 2002;27:11-16.
  • Morrison N, Qi JC, Tokita A et al. Prediction of bone density from Vitamin D Receptor Alles. Nature, 1994; 367:284-287.
  • Sencer E, Orhan Y. Beslenme. 1. Baskı, Medikal Yayıncılık Ltd. Şti. İstanbul, 2005:190-207.
  • http://omim.org/entry/601769#reference45 (Erişim Tarih: 08.2011)
  • Özmen İ, Köse O. Vitamin D ve Deri. Türk Dermatoloji Dergisi, 2008; 2: 77-83.
  • http://roxana-chong.blogspot.com/2009/03/sunshine-vitamin-diminishes-risk-of.html (Erişim tarih: 06.2011).
  • Nigel A,Yeoman MR, Kelly PJ, et al. Contribution of Trans-Acting Factor Alleles to Normal Physiological Variability: Vitamin D Receptor Gene Polymorphisms and Circulating Osteocalcin. Proceedings of the National Academy of Sciences of the United States of America,1992; 89(15):6665-6669.
  • Uitterlinden AG, Fang Y, Van Meurs B J J, et al. Genetics and biology of vitamin D receptor polymorphisms. Gene, 2004;338:143–156.
  • Zmuda JM, Cauley JA, and Ferrell RE. Molecular Epidemiology of Vitamin D Receptor Gene Variants. Epidemiologic Reviews, 2000; 22(2):203-217.
  • Valdivielso J M, Fernandez E. Vitamin D receptor polymorphisms and diseases. Clinica Chimica Acta, 2006; 371:1–12.
  • Denzer N, Vogt T, Reichrath J. Vitamin D receptor (VDR) polymorphisms and skin cancer: A systematic review. Dermato-Endocrinology 2011; 3(3): 205-210.
  • Gruber CJ, Wieser F, Gruber IM, et al. Current concepts in aesthetic endocrinology. Gynecol Endocrinol 2002;16(6):431-41.
  • Enmark E, Gustafsson JA. Oestrogen receptors - an overview. J. Intern Med. 1999; 246(2):133-8.
  • Sundarrajan C, Liao W, Roy AC, et al. Association of oestrogen receptor gene polymorphisms with outcome of ovarian stimulation in patients undergoing IVF. Mol Hum Reprod 1999;5:797–802.
  • Gennari L, Becherini L, Falchetti A, et al. Genetics of osteoporosis: role of steroid hormone receptor gene polymorphisms. The Journal of Steroid Biochemistry and molecular Biology, 2002; 81(1): 1-24.
  • Pollak A, Rokach A, Blumenfeld A, et al. Association of estrogen receptor alpha gene polymorphism with the angiographic extent of coronary artery disease. Eur Heart J 2004;25(3):240-5.
  • Matsubara Y, Murata M, Kawano K, et al. Genotype distribution of estrogen receptor polymorphisms in men and postmenopausal women from healthy and coronary populations and its relation to serum lipid levels. Arterioscler Thromb Vasc Biol 1997;17(11):3006-12.
  • Bustamante M, Nogues X et al. COL1A1, ESR1, VDR and TGFB1 polymorphisms and haplotypes in relation to KMY in Spanish postmenopausal women.Osteoporos Int 2007 18:235-243.
  • Kos M, Reid G, Denger S, et al. Genomic Organization of the Human ERα Gene Promoter Region. Mol. Endocrinol 2001; 15, 2057- 2063.
  • Becherini L, Gennari L, Masi L, et al. Evidence of a linkage disequilibrium between polymorphisms in the human estrogen receptor alpha gene and their relationship to bone mass variation in postmenopausal Italian women. Hum Mol Genet 2000;9(13):2043-50.
  • Cohn CS, Sullivan JA, Kiefer T, et al.. Identification of an enhancer element in the estrogen receptor upstream region: implications for regulation of ER transcription in breast cancer. Mol Cell Endocrinol 1999;158(1-2):25-36.
  • Rizzoli R, Bonjour J P, Ferrari S L. Osteoporosis, genetics and hormones. Journal of Molecular Endocrinology, 2001; 26: 79–94.
  • http://omim.org/entry/120150) 2011. ( Erişim Tarih: 08.2011)
  • Bou-Gharios G, de Crombrugghe B. Type I Collagen Structure, Synthesis, and Regulation. Bilezikian J., Raisz L., Martin J.T. Principles of Bone Biology (Third Edition) Elsevier Inc.; 2008:285-318.
  • Passarge E. Renkli Genetik Atlası, (Çev.: Lüleci, G., Sakızlı, M., Alper, Ö.). Nobel Tıp Kitabevleri Ltd. Sti, İstanbul. 2000.
  • Uitterlinden A G, Burger H, Huang Q, et al. Relation of alleles of the collagen type I a 1 gene to bone density and risk of osteoporotic fractures in postmenopausal women . N. Engl. J. Med. , 1998;338: 1016 – 1022 .
  • Allgrove J. Metabolic bone disease. Symposium: Metabolic Medicine. Paediatrics And Child Health, 2007; 17(7):253-259.
  • Körkkö J, Ala-Kokko L, De Paepe A, et al. Analysis of the COL1A1 and COL1A2 Genes by PCR Amplification and Scanning by Conformation-Sensitive Gel Electrophoresis Identifies Only COL1A1 Mutations in 15 Patients with Osteogenesis Imperfecta Type I: Identification of Common Sequences of Null-Allele Mutations. Am. J. Hum. Genet. 1998; 62:98–11.
  • http://www.genomos.eu/index.php?page=history (Erişim tarih: 09.2011).
  • Garcia-Giralt N, Enjuanes A, Bustamante M, et al. In vitro functional assay of alleles and haplotypes of two COL1A1-promoter SNPs. Bone, 2005; 36(5) , 902 – 908.
  • Jin H, van’t Hof R J, Albagha O M E, et al. Promoter and intron 1 polymorphisms of COL1A1 interact to regulate transcription and susceptibility to osteoporosis. Human Molecular Genetics, 2009;18(15):2729–2738.
  • Mann V, Ralston S H. Meta-analysis of COL1A1 Sp1 polymorphism in relation to bone mineral density and osteoporotic fracture. Bone, 2003; 32 ( 6 ): 711 –717.
  • Ralston S H, Crombrugghe B. Genetic regulation of bone mass and susceptibility to osteoporosis. Genes & Development, 2007; 20: 2492–2506.
  • Garcia-Giralt N, Nogues X, Enjuanes A, et al. Two New Single-Nucleotide Polymorphisms in the COL1A1 Upstream Regulatory Region and Their Relationship to Bone Mineral Density. Journal of Bone And Mineral Research 2002; 17( 3): 384-393.
  • Zintzaras E, Doxani C, Koufakis T, et al. Synopsis and meta-analysis of genetic association studies in osteoporosis for the focal adhesion family genes: the CUMAGAS OSTEOporosis information system. BMC Medicine. 2011; 9: 9.
  • http://www.humanity.ankara.edu.tr/timurmakale/B16.pdf (Erişim tarihi: 01.2007)

Osteoporoz ve İlişkili Genler: VDR, ESR ve COL1A1

Yıl 2011, Cilt: 20 Sayı: 4, 246 - 269, 01.12.2011

Öz

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.

Kaynakça

  • Uçan Ö, Taşcı S, Ovayolu N. Osteoporozda Risk Faktörleri ve Korunmanın Önemi. Fırat Sağlık Hizmetleri Dergisi, 2007;2(6):74-86.
  • Uslu H. Postmenopozal raloksifen HCL kullanımının serum homosisteini, lipid profili, koagülasyon profili ve kemik mineral yoğunluğu T skorları üzerine etkisi. Uzmanlık Tezi, T.C. Sağlık Bakanlığı Zeynep Kamil Kadın - Doğum ve Çocuk Hastalıkları Eğitim ve Araştırma Hastanesi, İstanbul, 2004. 3. http://www.humanity.ankara.edu.tr/timurmakale/B16.pdf (Erişim tarih: 01.2007) 4. Ferrari S L, Rizzoli R. Gene variants for osteoporosis and their pleiotropic effects in aging. Molecular Aspects of Medicine, 2005;26: 145–167.
  • Rizzoli R, Bonjour J P, Ferrari S L. Osteoporosis, genetics and hormones. Journal of Molecular Endocrinology, 2001; 26: 79–94.
  • Akın G, Gültekin T. Yaşlanma ve Osteoporoz, Yaşlı Sorunları Araştırma Dergisi, 2001;1(2).
  • Başaran S, Güzel R, Benlidayı İ C, Uysal F G. Osteoporozda Vitamin D Düzeyinin Yaşam Kalitesi Üzerine Etkisi. Osteoporoz Dünyasından, 2006; 12 (2): 35-38. 8. Sambrook P,Cooper C. Osteoporosis Seminar. Lancet, 2006; 367: 2010–18. 9. Şahin M, Demirağ N G. Osteoporoz: Tanı ve Tedavide Yenilikler. TOTBİD (Türk Ortopedi ve Travmatoloji Birliği Derneği) Dergisi, 2004;3(1).
  • Çay HF, Sezer N. Kemik Yapısı ve Kemik Döngüsü Üzerine Bir Derleme. Fiziksel Tıp, 2002; 5(3): 177-184.
  • Gürer N, Başak R, Bahadır C, et al. Kemik Mineral Yoğunluğu ile Kemik Döngüsünün Biyokimyasal Göstergelerinin İlişkisi. Türk Fiz Tıp Rehabilitasyon Dergisi 2005;51(2):54-57.
  • Aydil S. Osteoporozda Egzersiz Programının Solunum Fonksiyonlarına Ve Yaşam Kalitesine Etkisi. T.C. Sağlık Bakanlığı İstanbul 70.Yıl Fizik Tedavi Ve Rehabilitasyon Eğitim Ve Araştırma Hastanesi 2.Klinik, İstanbul, 2005.
  • Gennari L, Becherini L, Falchetti A, et al. Genetics of osteoporosis: role of steroid hormone receptor gene polymorphisms. The Journal of Steroid Biochemistry and molecular Biology, 2002; 81(1): 1-24.
  • Süsleyici- Duman B, Tanakol R, Erensoy N, et al. Vitamin D Receptor Alleles, Bone Mineral Density and Turnover in Postmenopausal Osteoporotic and Healthy Women. Med Princ Pract, 2004; 13:260–266.
  • Cooper GS, Umbach DM. Are vitamin D receptor polymorphisms associated with bone mineral density? A meta-analysis. J Bone Miner Res, 1996; 11:1841-1849.
  • Yaraman N, Çelik C, Karaoğlan B. Postmenopozal Kadınlarda Osteoporoz İle Çok Yönlü RiskFaktörlerinin Değerlendirilmesi. Fiziksel Tıp, 2002; 5(1): 23-26.
  • Ralston S H. Genetic Control of Susceptibility to Osteoporosis The Journal of Clinical Endocrinology & Metabolism, 2002; 87(6):2460–2466.
  • Kaya T, Günaydın R. Doruk Kemik Kütlesi. Heredite ve Değiştirilebilen Faktörlerin Rolü. Türk Osteoporoz Dünyasından, 2003; 9(1):33-36.
  • Giguere Y, Rousseau F. The genetics of osteoporosis: complexities and difficulties. Clinical Genetics, 2000: 161–169.
  • Duncan E L, Matthew A B.Genetic Determinants of Bone Density and Fracture Risk—State of the Art and Future Directions. J Clin Endocrinol Metab, 2010; 95: 2576–2587.
  • Ferrari S. Human genetics of osteoporosis. Best Practice & Research Clinical Endocrinology & Metabolism, 2008;5(22): 723–735.
  • Gençosmanoğlu B E, Eryavuz M. Osteoporozda Genetik Yaklaşım. Osteoporoz Dünyasından 2001; 7: 101-105.
  • Ralston SH. Genetic Determinants of Bone Mass and Osteoporotic Fracture. Principles of Bone Biology, 2008; 75(3): 1611-1634.
  • Aerssens J, Dequeker J, Peeters J, et al. Polymorphisms of the VDR, ER and COL1A1 Genes and Osteoporotic Hip Fracture in Elderly Postmenopausal Women. Osteoporos Int, 2000; 11: 583-591.
  • http://zehirlenme.blogspot.com/2010/10/polimorfizm-nedir.html (Erişim Tarih: 25.10.2011)
  • Özdemir-Erdoğan M, Postmenopozal Kadınlarda Kemik Mineral Yoğunluğu ile Östrojen Reseptör Alfa Ve Kollajen Tip I Alfa 1 Gen Polimorfizmlerinin İlişkisi. Doktora Tezi, Eskişehir Osmangazi Üniversitesi , Eskişehir, 2008.
  • Dayangaç D, Özaydın E, Özbaş-Gerçeker F, et al. Sağlıklı Türk Populasyonunda Vitamin D Reseptör (VDR) Gen Polimorfizm Analizi. Türk Biyokimya Dergisi, 2002;27:11-16.
  • Morrison N, Qi JC, Tokita A et al. Prediction of bone density from Vitamin D Receptor Alles. Nature, 1994; 367:284-287.
  • Sencer E, Orhan Y. Beslenme. 1. Baskı, Medikal Yayıncılık Ltd. Şti. İstanbul, 2005:190-207.
  • http://omim.org/entry/601769#reference45 (Erişim Tarih: 08.2011)
  • Özmen İ, Köse O. Vitamin D ve Deri. Türk Dermatoloji Dergisi, 2008; 2: 77-83.
  • http://roxana-chong.blogspot.com/2009/03/sunshine-vitamin-diminishes-risk-of.html (Erişim tarih: 06.2011).
  • Nigel A,Yeoman MR, Kelly PJ, et al. Contribution of Trans-Acting Factor Alleles to Normal Physiological Variability: Vitamin D Receptor Gene Polymorphisms and Circulating Osteocalcin. Proceedings of the National Academy of Sciences of the United States of America,1992; 89(15):6665-6669.
  • Uitterlinden AG, Fang Y, Van Meurs B J J, et al. Genetics and biology of vitamin D receptor polymorphisms. Gene, 2004;338:143–156.
  • Zmuda JM, Cauley JA, and Ferrell RE. Molecular Epidemiology of Vitamin D Receptor Gene Variants. Epidemiologic Reviews, 2000; 22(2):203-217.
  • Valdivielso J M, Fernandez E. Vitamin D receptor polymorphisms and diseases. Clinica Chimica Acta, 2006; 371:1–12.
  • Denzer N, Vogt T, Reichrath J. Vitamin D receptor (VDR) polymorphisms and skin cancer: A systematic review. Dermato-Endocrinology 2011; 3(3): 205-210.
  • Gruber CJ, Wieser F, Gruber IM, et al. Current concepts in aesthetic endocrinology. Gynecol Endocrinol 2002;16(6):431-41.
  • Enmark E, Gustafsson JA. Oestrogen receptors - an overview. J. Intern Med. 1999; 246(2):133-8.
  • Sundarrajan C, Liao W, Roy AC, et al. Association of oestrogen receptor gene polymorphisms with outcome of ovarian stimulation in patients undergoing IVF. Mol Hum Reprod 1999;5:797–802.
  • Gennari L, Becherini L, Falchetti A, et al. Genetics of osteoporosis: role of steroid hormone receptor gene polymorphisms. The Journal of Steroid Biochemistry and molecular Biology, 2002; 81(1): 1-24.
  • Pollak A, Rokach A, Blumenfeld A, et al. Association of estrogen receptor alpha gene polymorphism with the angiographic extent of coronary artery disease. Eur Heart J 2004;25(3):240-5.
  • Matsubara Y, Murata M, Kawano K, et al. Genotype distribution of estrogen receptor polymorphisms in men and postmenopausal women from healthy and coronary populations and its relation to serum lipid levels. Arterioscler Thromb Vasc Biol 1997;17(11):3006-12.
  • Bustamante M, Nogues X et al. COL1A1, ESR1, VDR and TGFB1 polymorphisms and haplotypes in relation to KMY in Spanish postmenopausal women.Osteoporos Int 2007 18:235-243.
  • Kos M, Reid G, Denger S, et al. Genomic Organization of the Human ERα Gene Promoter Region. Mol. Endocrinol 2001; 15, 2057- 2063.
  • Becherini L, Gennari L, Masi L, et al. Evidence of a linkage disequilibrium between polymorphisms in the human estrogen receptor alpha gene and their relationship to bone mass variation in postmenopausal Italian women. Hum Mol Genet 2000;9(13):2043-50.
  • Cohn CS, Sullivan JA, Kiefer T, et al.. Identification of an enhancer element in the estrogen receptor upstream region: implications for regulation of ER transcription in breast cancer. Mol Cell Endocrinol 1999;158(1-2):25-36.
  • Rizzoli R, Bonjour J P, Ferrari S L. Osteoporosis, genetics and hormones. Journal of Molecular Endocrinology, 2001; 26: 79–94.
  • http://omim.org/entry/120150) 2011. ( Erişim Tarih: 08.2011)
  • Bou-Gharios G, de Crombrugghe B. Type I Collagen Structure, Synthesis, and Regulation. Bilezikian J., Raisz L., Martin J.T. Principles of Bone Biology (Third Edition) Elsevier Inc.; 2008:285-318.
  • Passarge E. Renkli Genetik Atlası, (Çev.: Lüleci, G., Sakızlı, M., Alper, Ö.). Nobel Tıp Kitabevleri Ltd. Sti, İstanbul. 2000.
  • Uitterlinden A G, Burger H, Huang Q, et al. Relation of alleles of the collagen type I a 1 gene to bone density and risk of osteoporotic fractures in postmenopausal women . N. Engl. J. Med. , 1998;338: 1016 – 1022 .
  • Allgrove J. Metabolic bone disease. Symposium: Metabolic Medicine. Paediatrics And Child Health, 2007; 17(7):253-259.
  • Körkkö J, Ala-Kokko L, De Paepe A, et al. Analysis of the COL1A1 and COL1A2 Genes by PCR Amplification and Scanning by Conformation-Sensitive Gel Electrophoresis Identifies Only COL1A1 Mutations in 15 Patients with Osteogenesis Imperfecta Type I: Identification of Common Sequences of Null-Allele Mutations. Am. J. Hum. Genet. 1998; 62:98–11.
  • http://www.genomos.eu/index.php?page=history (Erişim tarih: 09.2011).
  • Garcia-Giralt N, Enjuanes A, Bustamante M, et al. In vitro functional assay of alleles and haplotypes of two COL1A1-promoter SNPs. Bone, 2005; 36(5) , 902 – 908.
  • Jin H, van’t Hof R J, Albagha O M E, et al. Promoter and intron 1 polymorphisms of COL1A1 interact to regulate transcription and susceptibility to osteoporosis. Human Molecular Genetics, 2009;18(15):2729–2738.
  • Mann V, Ralston S H. Meta-analysis of COL1A1 Sp1 polymorphism in relation to bone mineral density and osteoporotic fracture. Bone, 2003; 32 ( 6 ): 711 –717.
  • Ralston S H, Crombrugghe B. Genetic regulation of bone mass and susceptibility to osteoporosis. Genes & Development, 2007; 20: 2492–2506.
  • Garcia-Giralt N, Nogues X, Enjuanes A, et al. Two New Single-Nucleotide Polymorphisms in the COL1A1 Upstream Regulatory Region and Their Relationship to Bone Mineral Density. Journal of Bone And Mineral Research 2002; 17( 3): 384-393.
  • Zintzaras E, Doxani C, Koufakis T, et al. Synopsis and meta-analysis of genetic association studies in osteoporosis for the focal adhesion family genes: the CUMAGAS OSTEOporosis information system. BMC Medicine. 2011; 9: 9.
  • http://www.humanity.ankara.edu.tr/timurmakale/B16.pdf (Erişim tarihi: 01.2007)
Toplam 58 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Derleme
Yazarlar

Sabriye Kocatürk Sel Bu kişi benim

Halil Kasap Bu kişi benim

Yayımlanma Tarihi 1 Aralık 2011
Yayımlandığı Sayı Yıl 2011 Cilt: 20 Sayı: 4

Kaynak Göster

AMA Sel SK, Kasap H. Osteoporoz ve İlişkili Genler: VDR, ESR ve COL1A1. aktd. Aralık 2011;20(4):246-269.