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Genetic and environmental factors in human osteoporosis

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Abstract

Osteoporosis is a common disorder, with prolongation of the average life span it has become a major public health problem. On the formation of osteoporosis genetic factors and environmental influences could play a role then it is considered as multi-factorial. Because a variety of functions to affect susceptibility to the formation of osteoporosis VDR-F, VDR-B, COL1A1, ESR1X, ESR1P and CTR are thought to be candidate genes. In this study, the aim is to investigate the relationship between these genes polymorphism and bone mineral density (BMD) values of lumbar vertebra and femoral neck in 188 Turkish people. Lumbar spine and femoral neck BMD of the individuals included in the study were measured by the dual X-ray absorptiometry method. The genotyped polymorphisms by simultaneous amplification of five regions of the genome, containing six SNPs of interest and detecting the amplified product, using the kit MetaBone Clinical Arrays®. Statistical analyses indicated that; VDR-B gene polymorphisms major (P = 0.013), VDR-F polymorphisms have minor (P = 0.082) effect on femur BMD. None of the other genes has any significant effect on spinal BMD. Patient age, body mass index and diet has significant effect on femoral and spinal BMD. Osteoporosis is a multi-factorial disease and many genetic and non-genetic risk factors contribute to the development of osteoporosis. Early detection of a genetic predisposition to osteoporosis should allow delay and/or limit unfavorable changes in the bone tissue.

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References

  1. Kanis JA, Melton JR III, Christiansen C, Johnston CC, Khaltaev N (1994) The diagnosis of osteoporosis. J Bone Miner Res 9:1137–1141

    Article  PubMed  CAS  Google Scholar 

  2. Ergün Y (2007) Osteoporozlu Hastalarda Yaşam Kalitesini Etkileyen Faktörler. Adnan Menderes Üniversitesi Tıp Fakültesi Aile Hekimliği Anabilim Dalı, Uzmanlık Tezi

    Google Scholar 

  3. Raisz LG (2005) Clinical practica, screening for osteoporosis. N Engl J Med 353(2):164–171

    Article  PubMed  CAS  Google Scholar 

  4. Akkaya F (2006) Beslenmenin Osteoporozdan Korunma Ve Tedavi İle İlişkisi. Selçuk Üniversitesi Sağlık Bilimleri Enstitüsü Besin Hijyeni Ve Teknolojisi Ana Bilim Dalı, Yüksek Lisans Tezi

    Google Scholar 

  5. Gennari L, Merlotti D, De Paola V (2005) Estrogen receptor gene polymorphisms and the genetics of osteoporosis. Am J Epidemiol 161:307–320

    Article  PubMed  CAS  Google Scholar 

  6. Ralston SH (2002) Genetic control of susceptibility to osteoporosis. J Clin Endocrinol Metab 87(6):2460–2466

    Article  PubMed  CAS  Google Scholar 

  7. Kroger H, Huopio J, Honkanen R, Tuppurainen M, Puntila E, Alhava E, Saarikoski S (1995) Prediction of fracture risk using axial bone mineral density in a perimenopausal population: a prospective study. J Bone Miner Res 10:302–306

    Article  PubMed  CAS  Google Scholar 

  8. Langdahl BL, Ralston SH, Grant SFA, Eriksen EF (1998) An Sp1 binding site polymorphism in the COL1A1 gene predicts osteoporotic fractures in both men and women. J Bone Miner Res 13(9):1384–1389

    Article  PubMed  CAS  Google Scholar 

  9. Duman BS, Tanakol R, Erensoy N, Öztürk M, Yilmazer S (2004) Vitamin D receptor alleles, bone mineral density and turnover in postmenopausal osteoporotic and healthy women. Med Princ Pract 13:260–266

    Article  PubMed  Google Scholar 

  10. Şimsek M, Çetin Z, Bilgen T, Taskin Ö, Luleci G, Kese İ (2008) Effects of hormone replacement therapy on bone mineral density in Turkish patients with or without COL1A1 Sp1 binding site polymorphism. J Obstet Gynaecol 34(1):73–77

    Google Scholar 

  11. Bulca S (2010) Östrojen Reseptör Alfa Geni XbaI Ve PvuII Polimorfizmlerinin Postmenopozal Osteoporozlu Hastalarda İncelenmesi. Çukurova Üniversitesi Sağlık Bilimleri Enstitüsü Tıbbi Biyoloji Ana Bilim Dalı, Yüksek Lisans Tezi

    Google Scholar 

  12. Grant SF, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH (1996) Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha1 gene. Nat Genet 14:203–205

    Article  PubMed  CAS  Google Scholar 

  13. Braga V, Sangalli A, Malerba G, Mottes M, Mirandola S, Gatti D, Rossini M, Zamboni M, Adami S (2002) Relationship among VDR (BsmI and FokI), COLIA1, and CTR polymorphisms with bone mass, bone turnover markers, and sex hormones in men. Calcif Tissue Int 70:457–462

    Article  PubMed  CAS  Google Scholar 

  14. Khosla S, Riggs BL, Atkinson EJ, Oberg AL, Mavilia C, Del Monte F, Melton LJ 3rd, Brandi ML (2004) Relationship of estrogen receptor genotypes to bone mineral density and to rates of bone loss in men. J Clin Endocrinol Metab 89:1808–1816

    Article  PubMed  CAS  Google Scholar 

  15. Bandres E, Pombo I, Gonzales-Huarriz M, Rebollo A, Lopez G, Garcia-Foncillas J (2005) Association between bone mineral density and polymorphisms of the VDR, ERalpha, COL1A1 and CTR genes in Spanish postmenopausal women. J Endocrinol İnvest 28:312–321

    PubMed  CAS  Google Scholar 

  16. Bustamante M, Nogués X, Enjuanes A, Elosua R, García-Giralt N, Pérez-Edo L, Cáceres E, Carreras R, Mellibovsky L, Balcells S, Díez-Pérez A, Grinberg D (2007) COL1A1, ESR1, VDR and TGFB1 polymorphisms and haplotypes in relation to BMD in Spanish postmenopausal women. Osteoporos Int 18:235–243

    Article  PubMed  CAS  Google Scholar 

  17. Mcguigan FEA, Reid DM, Ralston SH (2000) Susceptibility to osteoporotic fracture is determined by allelic variation at the Sp1 site, rather than other polymorphic sites at the COL1A1 locus. Osteoporos Int 11:338–343

    Article  PubMed  CAS  Google Scholar 

  18. Masi L, Becherini L, Colli E, Gennari L, Mansani R, Falchetti A, Becorpi AM, Cepollaro C, Gonnelli S, Tanini A, Brandi ML (1998) Polymorphisms of the calcitonin receptor gene are associated with bone mineral density in postmenopausal Italian women. Biochem Biophys Res Commun 248:190–195

    Article  PubMed  CAS  Google Scholar 

  19. Braga V, Mottes M, Mirandola S, Lisi V, Malerba G, Sartori L, Bianchi G, Gatti D, Rossini M, Bianchini D, Adami S (2000) Association of CTR and col1A1 alleles with BMD values in peri and postmenopausal women. Calcif Tissue Int 67:361–366

    Article  PubMed  CAS  Google Scholar 

  20. Kobayashi S, Inoue S, Hosoi T, Ouchi Y, Shiraki M, Orimo H (1996) Association of bone mineral density with polymorphism of the estrogen receptor gene. J Bone Miner Res 11:306–311

    Article  PubMed  CAS  Google Scholar 

  21. Mizunuma H, Hosoi T, Okano H (1997) Estrogen receptor gene polymorphism and bone mineral density at the lumbar spine of pre and postmenopausal women. Bone 21:379–383

    Article  PubMed  CAS  Google Scholar 

  22. Gennari L, Becherini L, Masi L (1998) Vitamin D and estrogen receptor allelic variants in Italian postmenopausal women: evidence of multiple gene contribution to bone mineral density. J Clin Endocrinol Metab 83:939–944

    Article  PubMed  CAS  Google Scholar 

  23. Vandevyver C, Vanhoof J, Decledck K (1999) Lack of association between estrogen receptor genotypes and bone mineral density, fracture history, or muscle strength in elderly women. J Bone Miner Res 14:1576–1582

    Article  PubMed  CAS  Google Scholar 

  24. Morrison NA, Qi JC, Tokita A, Kelly PJ, Crofts L, Nguyen TV, Sambrook PN, Eisman JA (1997) Prediction of bone density from vitamin D receptor alleles. Correct Nat 387:106

    CAS  Google Scholar 

  25. Hustmyer FG, Peacock M, Hui S, Johnston CC, Christian J (1994) Bone mineral density in relation to polymorphism at the vitamin D receptor gene locus. J Clin Invest 94:2130–2134

    Article  PubMed  CAS  Google Scholar 

  26. Ferrari S, Manen D, Bonjour J-P, Slosman D, Rizzoli R (1999) Bone mineral mass and calcium and phosphate metabolism in young men: relationships with vitamin D receptor allelic polymorphisms. J Clin Endocrinol Metab 84:2043–2048

    Article  PubMed  CAS  Google Scholar 

  27. Melton LJ, Atkınson EJ, O’connor MK (1998) Bone density and fracture risk in men. J Bone Miner Res 12:1915–1923

    Article  Google Scholar 

  28. Armamento-Villareal R, Villareal DT, Avioli LV, Civitelli R (1992) Estrogen status and heredity are major determinants of premenopausal bone mass. J Clin Invest 90:2464–2471

    Article  PubMed  CAS  Google Scholar 

  29. Paker N, Sarıca MB, Tekdöş D, Kaya B, Buğdaycı SD (2005) Postmenopozal Kemik Kaybı Olan Kadınlarda Kemik Döngüsü. Osteoporoz Dünyasından 4:155–158

    Google Scholar 

  30. Joseph ML, Edward R (1996) Osteoporosis: diagnosis and treatment of osteoporosis. Bone Joint Surg 78(4):618–632

    Google Scholar 

  31. Wang MC (1997) Associations of vitamin C, calcium and protein with bone mass on postmenopausal Mexican American women. Osteoporos Int 7:533–538

    Article  PubMed  CAS  Google Scholar 

  32. Dawson B, Harris SS, Krall EAA (1997) Controlled calcium and vitamin D supplementation trial in men and women age 65 years and older. N Engl J Med 337:670–676

    Article  Google Scholar 

  33. Cordain L, Gotshall RW, Eaton SB (1997) Evolutionary aspects of exercise. Rev Nutr Diet 81:49–60

    CAS  Google Scholar 

  34. Maclennan WJ (1999) History of arthritis and bone rarefaction evidence from paleopathology onwards. Scott Med J 44:18–20

    PubMed  CAS  Google Scholar 

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Acknowledgments

This study was supported by the Afyon Kocatepe University Scientific Research Projects Commission with a projected numbered as 08.TIP.20. We are deeply grateful to Dr. İshak Abdurrahman Işık and Dr. Ferhat Akçit for collecting the subjects for this study. Prof. Dr. Necat İmirzalıoğlu acknowledged for his valuable assist.

Conflict of interest

There is no conflict of interest for any of the authors, who have all authors read and agreed to the manuscript.

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Authors and Affiliations

  1. The Ministry of Health, Isparta Maternity and Children’s Hospital, Isparta, Turkey

    Halil Özbaş

  2. Department of Medical Genetics, Faculty of Medicine, Afyon Kocatepe University, Afyonkarahisar, Turkey

    Serap Tutgun Onrat

  3. Department of Biostatistics, Faculty of Medicine, Eskişehir Osmangazi University, Eskisehir, Turkey

    Kazım Özdamar

Authors
  1. Halil Özbaş
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  2. Serap Tutgun Onrat
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  3. Kazım Özdamar
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Correspondence to Halil Özbaş.

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Özbaş, H., Tutgun Onrat, S. & Özdamar, K. Genetic and environmental factors in human osteoporosis. Mol Biol Rep 39, 11289–11296 (2012). https://doi.org/10.1007/s11033-012-2038-5

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  • DOI: https://doi.org/10.1007/s11033-012-2038-5

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