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Superoxide Dismutase 2 Polymorphisms and Osteoporosis in Asian Indians: A Genetic Association Analysis

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Veröffentlicht/Copyright: 15. Oktober 2015
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Cellular and Molecular Biology Letters
Aus der Zeitschrift Cellular and Molecular Biology Letters Band 20 Heft 4

Abstract

Oxidative stress plays an important role in the development of osteoporosis. The present cross-sectional study focuses on mapping single nucleotide polymorphisms (SNPs) in the mitochondrial manganese superoxide dismutase (SOD2) gene in Asian Indians. The bone mineral density (BMD) of study subjects was assessed by dual x-ray absorptiometry. Individuals were classified as normal (n = 82) or osteoporotic (n = 98). Biochemical parameters such as vitamin D, total oxidant status (TOS) and SOD2 enzyme activity were estimated from plasma samples. Semi-quantitative PCR was carried out using GAPDH as an endogenous control. Genomic DNA was isolated from whole blood and SNPs were evaluated by PCR sequencing. Thirteen SNPs are reported in the examined region of the SOD2 gene, out of which in our samples SNPs rs5746094 and rs4880 were found to be polymorphic. Allele G of rs5746094 (intronic) and allele C of rs4880 (exonic) are significantly higher in the osteoporotic individuals. Presence of allele C of rs4880 and increased level of TOS among osteoporotic individuals were found to be associated with disease risk.

Keywords : Osteoporosis; Superoxide dismutase 2; MnSOD; rs4880; Oxidative stress; SNPs; Total oxidant status; rs5746094

References

1. Ralston, S.H. and de Crombrugghe, B. Genetic regulation of bone mass and susceptibility to osteoporosis. Genes Dev. 20 (2006) 2492-2506.Suche in Google Scholar

2. Ferrari, S.L. Osteoporosis: A complex disorder of aging with multiple genetic and environmental determinants. World Rev. Nutr. Diet. 95 (2006) 35-51.Suche in Google Scholar

3. Sun, L., Peng, Y., Sharrow, A.C., Iqbal, J., Zhang, Z., Papachristou, D.J. and Zaidi, M. FSH directly regulates bone mass. Cell. 125 (2006) 247-260.Suche in Google Scholar

4. Lean, J.M., Davies, J.T., Fuller, K., Jagger, C.J., Kirstein, B., Partington, G.A., and Chambers, T.J. A crucial role for thiol antioxidants in estrogendeficiency bone loss. J. Clin. Invest. 112 (2006) 915-923.Suche in Google Scholar

5. Baek, K.H., Oh, K.W., Lee, W.Y., Lee, S.S., Kim, M.K., Kwon, H.S. and Kang, M.I. Association of oxidative stress with postmenopausal osteoporosis and the effects of hydrogen peroxide on osteoclast formation in human bone marrow cell cultures. Calcif. Tissue Int. 87 (2010) 226-235.Suche in Google Scholar

6. Srinivasan, S., Koenigstein, A., Joseph, J., Sun, L., Kalyanaraman, B., Zaidi, M. and Avadhani, N.G. Role of mitochondrial reactive oxygen species in osteoclast differentiation. Ann. N. Y. Acad. Sci. 1192 (2010) 245-252.Suche in Google Scholar

7. Manolagas, S.C. From estrogen-centric to aging and oxidative stress: a revised perspective of the pathogenesis of osteoporosis. Endocr. Rev. 31 (2010) 266-300.Suche in Google Scholar

8. Maggio, D., Barabani, M., Pierandrei, M., Polidori, M.C., Catani, M., Mecocci, P. and Cherubini, A. Marked decrease in plasma antioxidants in aged osteoporotic women: results of a cross-sectional study. J. Clin. Endocr. Metab. 88 (2003) 1523-1527.10.1210/jc.2002-021496Suche in Google Scholar PubMed

9. Morton, D.J., Barrett‐Connor, E.L. and Schneider, D.L. Vitamin C supplement use and bone mineral density in postmenopausal women. J. Bone Miner. Res. 16 (2001) 135-140.Suche in Google Scholar

10. Mao, G.D., Thomas, P.D., Lopaschuk, G.D. and Poznansky, M.J. Superoxide dismutase SOD-catalase conjugates - Role of hydrogen peroxide and the Fenton reaction in SOD toxicity. J. Biol. Chem. 268 (1993) 416-420.Suche in Google Scholar

11. Dernbach, E., Urbich, C., Brandes, R.P., Hofmann, W.K., Zeiher, A.M. and Dimmeler, S. Antioxidative stress-associated genes in circulating progenitor cells: evidence for enhanced resistance against oxidative stress. Blood 104 (2004) 3591-3597.Suche in Google Scholar

12. Sun, J., Folk, D., Bradley, T.J. and Tower J. Induced overexpression of mitochondrial Mn-superoxide dismutase extends the life span of adult Drosophila melanogaster. Genetics 161 (2002) 661-672.Suche in Google Scholar

13. Lebovitz, R.M., Zhang, H., Vogel, H., Cartwright, J., Dionne, L., Lu, N. and Matzuk, M.M. Neurodegeneration, myocardial injury, and perinatal death in mitochondrial superoxide dismutase-deficient mice. Proc. Natl. Acad. Sci. 93 (1996) 9782-9787.Suche in Google Scholar

14. Williams, M.D., Van Remmen, H., Conrad, C.C., Huang, T.T., Epstein, C.J. and Richardson, A. Increased oxidative damage is correlated to altered mitochondrial function in heterozygous manganese superoxide dismutase knockout mice. J. Biol. Chem. 273 (1998) 28510-28515.Suche in Google Scholar

15. Hiroi, S., Harada, H., Nishi, H., Satoh, M., Nagai, R. and Kimura, A. Polymorphisms in the SOD2 and HLA-DRB1 Genes are associated with nonfamilial idiopathic dilated cardiomyopathy in Japanese. Biochem. Biophys. Res. Commun. 261 (1999) 332-339.Suche in Google Scholar

16. Hsueh, Y.M., Lin, P., Chen, H.W., Shiue, H.S., Chung, C.J., Tsai, C.T. and Chen, C.J. Genetic polymorphisms of oxidative and antioxidant enzymes and arsenic-related hypertension. J. Tox. Env. Health [A] 68 (2005) 1471-1484.Suche in Google Scholar

17. Mlakar, S.J., Osredkar, J., Prezelj, J. and Marc, J. Antioxidant enzymes GSR, SOD1, SOD2, and CAT gene variants and bone mineral density values in postmenopausal women: a genetic association analysis. Menopause 19 (2012) 368-376.Suche in Google Scholar

18. McCauley, E., Mackie, A., Elliott, D. and Chuck, A. Heel bone densitometry: device specific thresholds for the assessment of osteoporosis. The Brit. J. Radiol. 79 (2006) 464-467.Suche in Google Scholar

19. Sweeney, A.T., Malabanan, A.O., Blake, M.A., Weinberg, J., Turner, A., Ray, P. and Holick, M.F. Bone mineral density assessment: comparison of dual-energy X-ray absorptiometry measurements at the calcaneus, spine, and hip. J. Clin. Densitom. 5 (2002) 57-62.Suche in Google Scholar

20. McClung, M.R. Clinical risk factors and evaluation of the risk of osteoporosis in clinical practice. Ann. Med. Interne. Paris 151 (2000) 392-398.Suche in Google Scholar

21. Erel, O. A novel automated method to measure total antioxidant response against potent free radical reactions. Clin. Biochem. 37 (2004) 112-119.Suche in Google Scholar

22. Chomczynski, P. and Sacchi, N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162 (1987) 156-159.Suche in Google Scholar

23. Schneider, C.A., Rasband, W.S., Eliceiri, K.W., Schindelin, J., Arganda- Carreras, I., Frise, E. and Roysam, B. NIH image to ImageJ: 25 years of image analysis. Nat. Methods. 9 (2012) 671-675.Suche in Google Scholar

24. Rozen, S. and Skaletsky, H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol. Biol. 132 (2000) 356-386. Suche in Google Scholar

25. Hall, T.A. BioEdit: a user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT. Nucleic Acids Symp. (Ser.Oxf.) 41 (1999) 95-98.Suche in Google Scholar

26. Morin, S., Tsang, J.F. and Leslie, W.D. Weight and body mass index predict bone mineral density and fractures in women aged 40 to 59 years, Osteoporos. Int. 20 (2009) 363-370.10.1007/s00198-008-0688-xSuche in Google Scholar PubMed

27. Salahuddin, P., Rabbani, G. and Khan, R. The role of advanced glycation end products in various types of neurodegenerative disease: a therapeutic approach. Cell. Mol. Biol. Lett. 19 (2014) 407-437.Suche in Google Scholar

28. Altindag, O., Erel, O., Soran, N., Celik, H. and Selek, S. Total oxidative/ anti-oxidative status and relation to bone mineral density in osteoporosis. Rheumatol. Int. 28 (2008) 317-321.Suche in Google Scholar

29. Sánchez-Rodríguez, M.A., Ruiz-Ramos, M., Correa-Muñoz, E. and Mendoza-Núñez, V.M. Oxidative stress as a risk factor for osteoporosis in elderly Mexicans as characterized by antioxidant enzymes. BMC Musculoskelet. Disord. 8 (2007) 124.Suche in Google Scholar

30. Arya, V., Bhambri, R., Godbole, M.M. and Mithal, A. Vitamin D status and its relationship with bone mineral density in healthy Asian Indians. Osteoporos. Int. 15 (2004) 56-61.Suche in Google Scholar

31. Awumey, E.M., Mitra, D.A., Hollis, B.W., Kumar, R. and Bell, N.H. Vitamin D metabolism is altered in Asian Indians in the southern United States: A clinical research center study. J. Clin. Endocr. Metab. 83 (1998) 169-173.Suche in Google Scholar

32. Mithal, A., Wahl, D.A., Bonjour, J.P., Burckhardt, P., Dawson-Hughes, B., Eisman, J.A. and Morales-Torres, J. Global vitamin D status and determinants of hypovitaminosis D. Osteoporos. Int. 20 (2009) 1807-1820.Suche in Google Scholar

33. Tao, R., Coleman, M.C., Pennington, J.D., Ozden, O., Park, S.H., Jiang, H. and Gius, D. Sirt3-mediated deacetylation of evolutionarily conserved lysine 122 regulates MnSOD activity in response to stress. Mol. Cell. 40 (2010) 893-904.Suche in Google Scholar

34. Crawford, A., Fassett, R.G., Geraghty, D.P., Kunde, D.A., Ball, M.J., Robertson, I.K., and Coombes, J.S. Relationships between single nucleotide polymorphisms of antioxidant enzymes and disease. Gene 501 (2012) 89-103.Suche in Google Scholar

35. Sutton, A., Imbert, A., Igoudjil, A., Descatoire, V., Cazanave, S., Pessayre, D. and Degoul, F. The manganese superoxide dismutase Ala16Val dimorphism modulates both mitochondrial import and mRNA stability. Pharmacogenet. Genomics 15 (2005) 311-319.Suche in Google Scholar

36. Lewis, C.M. Genetic association studies: design, analysis and interpretation. Brief. Bioinform. 3 (2002) 146-153.10.1093/bib/3.2.146Suche in Google Scholar PubMed

37. Shimoda-Matsubayashi, S., Matsumine, H., Kobayashi, T., Nakagawa- Hattori, Y., Shimizu, Y. and Mizuno, Y. Structural dimorphism in the mitochondrial targeting sequence in the human manganese superoxide dismutase gene: a predictive evidence for conformational change to influence mitochondrial transport and a study of allelic association in Parkinson's disease. Biochem. Biophys. Res. Commun. 226 (1996) 561-565. Suche in Google Scholar

Received: 2015-3-2
Accepted: 2015-8-20
Published Online: 2015-10-15
Published in Print: 2015-12-1

© 2015

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https://doi.org/10.1515/cmble-2015-0041
Schlagwörter für diesen Artikel
Osteoporosis; Superoxide dismutase 2; MnSOD; rs4880; Oxidative stress; SNPs; Total oxidant status; rs5746094

Artikel in diesem Heft

  1. Elevated pressure enhanced TRAIL-induced apoptosis in hepatocellular carcinoma cells via ERK1/2-inactivation
  2. HsOrc4-dependent DNA remodeling of the ori-β DHFR replicator
  3. Is Iron Chelation Important in Preventing Glycation of Bovine Serum Albumin in Vitro?
  4. The transition of the 37-kDa laminin receptor (RPSA) to higher molecular weight species: SUMOylation or artifact?
  5. Mechanical strain affects some microRNA profiles in pre-oeteoblasts.
  6. Sphingosine-1-phosphate induces the migration and angiogenesis of EPCs through the Akt signaling pathway via sphingosine-1-phosphate receptor 3/platelet-derived growth factor receptor-β
  7. Bioinformatics-based molecular classification of Arthrobacter plasmids
  8. Ras Transformation Overrides a Proliferation Defect Induced by Tpm3.1 Knockout
  9. The advanced lipoxidation end product precursor malondialdehyde induces IL-17E expression and skews lymphocytes to the Th17 subset
  10. On Application of Langevin Dynamics in Logarithmic Potential to Model Ion Channel Gate Activity
  11. Superoxide Dismutase 2 Polymorphisms and Osteoporosis in Asian Indians: A Genetic Association Analysis
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