The Action of Gene Polymorphism in the pathogenesis of periodontal diseases: A Narrative Review

Gene Polymorphism in Periodontal diseases.

  • Neelam Das Rama Dental College Hospital & Research Centre
  • Shruti Gupta
  • Shruti Gupta
Keywords: Gene, Polymorphism, Cytokines, Host response, periodontal disease.


Presently, it is known that pathogenic bacteria are the key factors for the initiation of periodontal disease, but the host response and the severity of clinical expression are largely determined by genetic susceptibility and environmental factors. There is evidence that the individual response to the environment and variations in the immune response in periodontitis are associated with genetic factors. The gene polymorphisms like interleukin-1 beta (IL-1b), interleukin-6 (IL-6), tumour necrosis factor-alpha (TNF-a) genes and their factors that determine the production of various cytokines which play an important role in the pathophysiology of inflammation and periodontal diseases. A sequel of this realization is that if the genetic basis of periodontal disease susceptibility can be understood, such information may have diagnostic and therapeutic value. This review focus to upgrade the general practitioners and periodontist about various genetic polymorphisms associated with periodontal diseases to aid in a better approach to the condition in the future.


1. Otenio C, Fonseca I, Martins M, Ribeiro L, Assis N, Ferreira A, et al. Expression of IL-1, IL-6, TNF-α, and iNOS in pregnant women with periodontal disease. Genet Mol Res. 2012; 11: 4468–78.
2. Newman MG, Takei HH, Klokkevold PR, Carranza FA. Classification of diseases and conditions affecting the periodontium. Carranza’s Clinical Periodontology. 10th ed. Saunders Company. 2006: 100-9.
3. Offenbacher S. Periodontal diseases: Pathogenesis. Ann Periodontol. 1996; 1:821-78.
4. Jayaraman P, Shendre AA, Gattani D, Singh Rajput N. Genetics and Periodontal disease. Int J Multidiscip Dent. 2013; 3: (2): 695-99.
5. Saroch N. Role of genetics in the pathogenesis of periodontal disease. 2nd ed. Periobasic A textbook of periodontics and implantology. Himachal Pradesh. Sushrut Publications Pvt. Ltd. 2019.p.245-46.
6. Nayak D G, Uppor A, CP Mahesh. Role of genetics in periodontal therapy. 2nded Textbook of periodontology and oral implantology. New Delhi .Reed Elsevier India Pvt. Ltd, 2015. p. 140-49.
7. Gandhi M, Kothiwala S. Association of periodontal disease with genetic polymorphism. Int J Genet Eng. 2012: 2(3): 19-27.
8. Kozak M, Zamojcin EW, Mochol Mazurek M, Pawlik A. Cytokines and their Genetic Polymorphisms Related to Periodontal Disease. J Clin Med. 2020; 9:4.
9. Karthikeyan G, Meenakshi S. Genetic Biomarkers in Periodontal Disease Diagnosis.Intechopen.2019:1-8.
10. Nikolopoulos GK, Dimou NL, Hamodrakas SJ, Bagos PG. Cytokine gene polymorphisms in periodontal disease: A meta-analysis. J Clin Periodontol. 2008; 35(9): 754-76.
11. Panova DV, Mlachkova A, Popova C. Gene polymorphisms in periodontitis. Overview. Biotechnol. Biotechnol Equip.2015; 29:5, 834-39.
12. Sivaranjani KS, Bijivin Raj V, Kumar B Na, Arvina R, Hema P, Ananya Sweta V. Genetic aspects of Chronic and Aggressive Periodontitis. J Sci Dent. 2019;8(2):61-8
13. Tarannum F, Faizuddin M. Effect of gene polymorphisms on periodontal diseases. Indian J Hum Genet. 2012; 18:9-19.
14. Bonfil JJ, Dillier FL, Mercier P, Reviron D, Foti B, Sambuc R, et al. A “case control” study on the role of HLADR4 in severe periodontitis and rapidly progressive periodontitis. J Clin Periodontol. 1999; 26(2):77-84.
15. Schroder NW, Meister D, Wolff V, Christan C, Kaner D, Haban V, et al. Chronic periodontal disease is associated with single-nucleotide polymorphisms of the human TLR-4gene. Genes Immun. 2005; 6:448-51.
16. Hubacek JA, Rothe G, Pitha J, Skodova Z, Stanek V, Poledne R, et al. C (-260) – T Polymorphism in the promoter of the CD14 receptor gene as a risk factor for
myocardial infarction. Circulation. 1999; 99:3218-20.
17. Folwaczny M, Glas J, Torok HP, Mauermann D, Folwaczny C. The 3020insC mutation of the NOD2/ CARD15 gene in patients with periodontal disease. Eur J Oral Sci. 2004; 112:316-9.
18. Hart TC, Hart PS, Michalec MD, Zhang Y, Firatli E, Van Dyke TE, et al. Haim-Munk syndrome and Papillon-lefeverre syndrome are allelic mutations in cathepsin C. J Med Genet. 2000; 37:81-2.
19. Hart TC, Hart PS, Bowden DW, Michalec MD, Callison SA, Walker SJ, et al. Mutations of the cathepsin CG are responsible for Papillon-lefevere syndrome. J Med Genet. 1999; 36:881-7.
20. Toomes C, James J, Wood AJ, Wu CL, McCornick D, Lench N, et al. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmo-plantarkeratosis. Nat Genet. 1999; 23:378-80.
21. Cao Z, Li C, Zhu G. MMP-1 promoter gene polymorphism and susceptibility to chronic periodontitis in a Chinese population. Tissue Antigens. 2006; 68:38-43.
22. Marizata ML, Burmeister JA, Gunsolley JC, Koertage TE, Lake K, Schenkein HA. Evidence for autosomal dominant inheritance and race specific heterogeneity in early–onset periodontitis. J Periodontol. 1994; 65:623-30.
23. Michalowicz BS, Aeppli D, Virag JG. Periodontal findings in adult twins. J Periodontol. 1991; 62:293-9.
24. Tarannum F, Faizuddin M. Effect of gene polymorphisms on periodontal diseases. Indian J Hum Genet. 2012; 18:9-19.
25. Gandhi. M et al.: Association of Periodontal Diseases with Genetic Polymorphisms. Int J Gen Eng. 2012; 2(3): 19-27.
26. Kornman. KS, Giovine .FS: Genetic variations in cytokine expression: a risk factor for severity of adult periodontitis. Ann Periodontal.1998. 3: 327.
How to Cite
Das, N., Shruti Gupta, & Shruti Gupta. (2022). The Action of Gene Polymorphism in the pathogenesis of periodontal diseases: A Narrative Review. UNIVERSITY JOURNAL OF DENTAL SCIENCES, 8(4).