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Challenges in Periodontal Genetics Research

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Understanding Periodontal Research

Abstract

What if you had a dresser drawer filled with thousands of puzzle pieces mixed together from an unknown number of jigsaw puzzles, and you wanted to solve each puzzle separately? How would you begin to sort this out? This puzzle drawer is analogous to what many researchers face when trying to discover the underlying genetic and environmental causes linked to complex forms of human disease.

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References

  • Armitage GC. Development of a classification system for periodontal diseases and conditions. Ann Periodontol. 1999;1:1–6.

    Article  Google Scholar 

  • Barros SP, Offenbacher S. Epigenetics: connecting environment and genotype to phenotype and disease. J Dent Res. 2009;5:400–8.

    Google Scholar 

  • Bernstein BE, Stamatoyannopoulos JA, Costello JF, Ren B, Milosavljevic A, Meissner A, Kellis M, Marra MA, Beaudet AL, Ecker JR, Farnham PJ, Hirst M, Lander ES, Mikkelsen TS, Thomson JA. The NIH Roadmap Epigenomics Mapping Consortium. Nat Biotechnol. 2010;28:1045–8.

    Article  PubMed  Google Scholar 

  • Bossuyt PM, Reitsma JB, Bruns DE, Gatsonis CA, Glasziou PP, et al. Towards complete and accurate reporting of studies of diagnostic accuracy: the STARD initiative. BMJ. 2003;326:41–4.

    Article  PubMed  Google Scholar 

  • Cooper DN, Nussbaum RL, Krawczak M. Proposed guidelines for papers describing DNA polymorphism-disease associations. Hum Genet. 2002;110(3):207–8.

    Article  PubMed  Google Scholar 

  • Craig, J. Complex diseases: Research and applications. Nature Education, 2008;1(1). Available at. http://www.nature.com/scitable/topicpage/complex-diseases-research-and-applications-748.

  • Dempfle A, Scherag A, Hein R, Beckmann L, Chang-Claude J, Schäfer H. Gene-environment interactions for complex traits: definitions, methodological requirements and challenges. Eur J Hum Genet. 2008;16:1164–72.

    Article  PubMed  Google Scholar 

  • Dibbens LM, Heron SE, Mulley JC. A polygenic heterogeneity model for common epilepsies with complex genetics. Genes Brain Behav. 2007;6:593–7.

    Article  PubMed  Google Scholar 

  • Dumitrescu AL, Kobayashi J. Genetic variants in periodontal health and disease. 1st ed. Berlin/Heidelberg: Springer Germany; 2009.

    Google Scholar 

  • Eichler EE, Flint J, Gibson G, Kong A, Leal SM, Moore JH, Nadeau JH. Missing heritability and strategies for finding the underlying causes of complex disease. Nat Rev Genet. 2010;11:446–50.

    Article  PubMed  Google Scholar 

  • Frazer KA, Murray SS, Schork NJ, Topol EJ. Human genetic variation and its contribution to complex traits. Nat Rev Genet. 2009;10:241–51.

    Article  PubMed  Google Scholar 

  • Gomez RS, Dutra WO, Moreira PR. Epigenetics and periodontal disease: future perspectives. Inflamm Res. 2009;58:625–9.

    Article  PubMed  Google Scholar 

  • Hirst M, Marra MA. Epigenetics and human disease. Int J Biochem Cell Biol. 2009;1:136–46.

    Article  Google Scholar 

  • Hodge SE. Linkage analysis versus association analysis: distinguishing between two models that explain disease-marker associations. Am J Hum Genet. 1993;53:367–84.

    PubMed  Google Scholar 

  • Hodge DR, Peng B, Cherry JC, Hurt EM, Fox SD, Kelley JA, et al. Interleukin 6 supports the maintenance of p53 tumor suppressor gene promotor methylation. Cancer Res. 2005;65:4673–82.

    Article  PubMed  Google Scholar 

  • Hunter DJ. Gene-environment interactions in human diseases. Nat Rev Genet. 2005;6:287–98.

    Article  PubMed  Google Scholar 

  • Iacopino AM. Epigenetics: new explanations for old problems? J Can Dent Assoc. 2010;76:a76.

    PubMed  Google Scholar 

  • Imai K, Ochiai K. Role of histone modification on transcriptional regulation and HIV-1 gene expression: possible mechanisms of periodontal diseases in AIDS progression. J Oral Sci. 2011;53:1–13.

    Article  PubMed  Google Scholar 

  • Janssens AC, Ioannidis JP, van Duijn CM, Little J, Khoury MJ, GRIPS Group. Strengthening the reporting of genetic risk prediction studies: the GRIPS statement. Genet Med. 2011a;13:453–6.

    Article  PubMed  Google Scholar 

  • Janssens AC, Ioannidis JP, van Duijn CM, Little J, Khoury MJ, Human Genome Epidemiology Network. Strengthening the reporting of genetic risk prediction studies: the GRIPS statement. Eur J Hum Genet. 2011b;19:833–6.

    Article  PubMed  Google Scholar 

  • Jia LY, Tam PO, Chiang SW, Ding N, Chen LJ, Yam GH, Pang CP, Wang NL. Multiple gene polymorphisms analysis revealed a different profile of genetic ­polymorphisms of primary open-angle glaucoma in northern Chinese. Mol Vis. 2009;15:89–98.

    PubMed  Google Scholar 

  • Kinane DF, Hart TC. Genes and gene polymorphisms associated with periodontal disease. Crit Rev Oral Biol Med. 2003;14:430–49.

    Article  PubMed  Google Scholar 

  • Laine ML, Crielaard W, Loos BG. Genetic susceptibility to periodontitis. Periodontol 2000. 2012;58:37–68.

    Article  PubMed  Google Scholar 

  • Lee JH, Moore JH, Park SW, Jang AS, Uh ST, Kim YH, Park CS, Park BL, Shin HD. Genetic interactions model among Eotaxin gene polymorphisms in asthma. J Hum Genet. 2008;53:867–75.

    Article  PubMed  Google Scholar 

  • Listgarten J, Damaraju S, Poulin B, Cook L, Dufour J, Driga A, Mackey J, Wishart D, Greiner R, Zanke B. Predictive models for breast cancer susceptibility from multiple single nucleotide polymorphisms. Clin Cancer Res. 2004;10:2725–37.

    Article  PubMed  Google Scholar 

  • Little J, Higgins JP, Ioannidis JP, Moher D, Gagnon F, von Elm E, Khoury MJ, Cohen B, Davey-Smith G, Grimshaw J, Scheet P, Gwinn M, Williamson RE, Zou GY, Hutchings K, Johnson CY, Tait V, Wiens M, Golding J, van Duijn C, McLaughlin J, Paterson A, Wells G, Fortier I, Freedman M, Zecevic M, King R, Infante-Rivard C, Stewart A, Birkett N. STrengthening the REporting of Genetic Association studies (STREGA) – an extension of the STROBE statement. Eur J Clin Invest. 2009a;39:247–66.

    Article  PubMed  Google Scholar 

  • Little J, Higgins JP, Ioannidis JP, Moher D, Gagnon F, von Elm E, Khoury MJ, Cohen B, Davey-Smith G, Grimshaw J, Scheet P, Gwinn M, Williamson RE, Zou GY, Hutchings K, Johnson CY, Tait V, Wiens M, Golding J, van Duijn C, McLaughlin J, Paterson A, Wells G, Fortier I, Freedman M, Zecevic M, King R, Infante-Rivard C, Stewart A, Birkett N, STrengthening the REporting of Genetic Association Studies. STrengthening the REporting of Genetic Association Studies (STREGA): an extension of the STROBE statement. PLoS Med. 2009b;6:e22.

    Article  PubMed  Google Scholar 

  • McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JP, Hirschhorn JN. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet. 2008;9:356–69.

    Article  PubMed  Google Scholar 

  • McShane LM, Altman DG, Sauerbrei W, Taube SE, Gion M, et al. Reporting recommendations for tumor marker prognostic studies. J Clin Oncol. 2005;23:9067–72.

    Article  PubMed  Google Scholar 

  • Moreira PR, Lima PMA, Sathler KOB, Imanishi SA, Costa JE, Gomes RS, et al. Interleukin-6 expression and gene polymorphism are associated with severity of periodontal disease in a sample of Brazilian individuals. Clin Exp Immunol. 2007;148:119–26.

    Article  PubMed  Google Scholar 

  • Nakao M. Epigenetics: interaction of DNA methylation and chromatin. Gene. 2001;278:25–31.

    Article  PubMed  Google Scholar 

  • Nikolopoulos GK, Dimou NL, Hamodrakas SJ, Bagos PG. Cytokine gene polymorphisms in periodontal disease: a meta-analysis of 53 studies including 4178 cases and 4590 controls. J Clin Periodontol. 2008;35:754–67.

    Article  PubMed  Google Scholar 

  • Nose M. A polygene network model for the complex pathological phenotypes of collagen disease. Pathol Int. 2011;61:619–29.

    Article  PubMed  Google Scholar 

  • Offenbacher S, Barros SP, Beck JD. Rethinking periodontal inflammation. J Periodontol. 2008;79:1577–84.

    Article  PubMed  Google Scholar 

  • Pers TH, Hansen NT, Lage K, Koefoed P, Dworzynski P, Miller ML, Flint TJ, Mellerup E, Dam H, Andreassen OA, Djurovic S, Melle I, Børglum AD, Werge T, Purcell S, Ferreira MA, Kouskoumvekaki I, Workman CT, Hansen T, Mors O, Brunak S. Meta-analysis of heterogeneous data sources for genome-scale identification of risk genes in complex phenotypes. Genet Epidemiol. 2011;35:318–32.

    Article  PubMed  Google Scholar 

  • Schäfer AS, Jepsen S, Loos BG. Periodontal genetics: a decade of genetic association studies mandates better study designs. J Clin Periodontol. 2011;38:103–7.

    Article  PubMed  Google Scholar 

  • Shen CD, Zhang WL, Sun K, Wang YB, Zhen YS, Hui RT. Interaction of genetic risk factors confers higher risk for thrombotic stroke in male Chinese: a multicenter case-control study. Ann Hum Genet. 2007;71:620–9.

    Article  PubMed  Google Scholar 

  • Slatkin M. Linkage disequilibrium--understanding the evolutionary past and mapping the medical future. Nat Rev Genet. 2008 Jun;9(6):477–85

    Article  PubMed  Google Scholar 

  • Stabholz A, Soskolne WA, Shapira L. Genetic and environmental risk factors for chronic periodontitis and aggressive periodontitis. Periodontol 2000. 2010;53:138–53.

    Article  PubMed  Google Scholar 

  • Stenvinkel P, Karimi M, Johansson S, Axelsson J, Suliman M, Lindholm B, et al. Impact of inflammation on epigenetic DNA methylation: a novel risk factor for cardiovascular disease? J Intern Med. 2007;261:488–99.

    Article  PubMed  Google Scholar 

  • Thakkinstian A, McElduff P, D’Este C, Duffy D, Attia J. A method for meta-analysis of molecular association studies. Stat Med. 2005;24:1291–306.

    Article  PubMed  Google Scholar 

  • von Elm E, Altman DG, Egger M, Pocock SJ, Gotzsche PC, Vandenbroucke JP. The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies. Lancet. 2007;370:1453–7.

    Article  Google Scholar 

  • von Elm E, Moher D, Little J, STREGA collaboration. Reporting genetic association studies: the STREGA statement. Lancet. 2009;374(9684):98–100.

    Article  Google Scholar 

  • Weedon MN, McCarthy MI, Hitman G, Walker M, Groves CJ, Zeggini E, Rayner NW, Shields B, Owen KR, Hattersley AT, Frayling TM. Combining information from common type 2 diabetes risk polymorphisms improves disease prediction. PLoS Med. 2006;3:e374.

    Article  PubMed  Google Scholar 

  • Xiao R, Boehnke M. Quantifying and correcting for the winner’s curse in genetic association studies. Genet Epidemiol. 2009;33:453–62.

    Article  PubMed  Google Scholar 

  • Xiao R, Boehnke M. Quantifying and correcting for the winner’s curse in quantitative-trait association studies. Genet Epidemiol. 2011;35:133–8.

    Article  PubMed  Google Scholar 

  • Yoshie H, Galicia JC, Kobayashi T, Tai H. Genetic polymorphisms and periodontitis. Int Congr Ser. 2005;1284:131–9.

    Article  Google Scholar 

  • Yoshie H, Kobayashi T, Tai H, Galicia JC. The role of genetic polymorphisms in periodontitis. Periodontol 2000. 2007;43:102–32.

    Article  PubMed  Google Scholar 

  • Zhang J, Sun X, Xiao L, Xie C, Xuan D, Luo G. Gene polymorphisms and periodontitis. Periodontol 2000. 2011;56:102–24.

    Article  PubMed  Google Scholar 

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Dumitrescu, A.L. (2012). Challenges in Periodontal Genetics Research. In: Understanding Periodontal Research. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-28923-1_17

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  • DOI: https://doi.org/10.1007/978-3-642-28923-1_17

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