Journal of Periodontal and Implant Science

Korean Academy of Periodontology (대한치주과학회)
권호 표지

The IL-1 Gene polymorphisms in Korean Children

한국인 아동에서의 IL-1 유전자 다변성 연구

  • Yoon, Seong-Sik (Dept. of Periodontology, Chonnam National University) ;
  • Chung, Hyun-Ju (Dept. of Periodontology, Chonnam National University, Dental Science Research institute, Chonnam National University) ;
  • Kim, Ok-Su (Dept. of Periodontology, Chonnam National University, Dental Science Research institute, Chonnam National University) ;
  • Yang, Ku-Ho (Dept. of Pediatric Dentistry, Chonnam National University, Dental Science Research institute, Chonnam National University)
  • 윤성식 (전남대학교 치과대학 치주과학교실) ;
  • 정현주 (전남대학교 치과대학 치주과학교실, 전남대학교 치의학 연구소) ;
  • 김옥수 (전남대학교 치과대학 치주과학교실, 전남대학교 치의학 연구소) ;
  • 양규호 (전남대학교 치과대학 소아치과학 교실, 전남대학교 치의학 연구소)
  • Published : 2005.06.30
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Abstract

The severe form of chronic periodontitis(CP) has been reported to be strongly associated with the presence of allele 2 of composite IL-1B(+3954) and IL-1A(+4845) genetic polymorphisms(genotype positive). However, other studies have reported conflicting findings. These might have resulted from differences in ethnic background and disease entities. The aim of this study was to determine the distribution of IL-1A(+4845), IL-1B(+3954), IL-1B(-511), and IL-1 RN(VNTR) genetic polymorphisms in children as a future Korean population. The study population consisted of 92 children from the Dept. of Pediatric Dentistry, Chonnam National University Hospital. Genomic DNA was obtained from buccal swab. The IL-1A(+4845), IL-1B(+3954), and IL-1B(-511) genes were genotyped by amplifying the polymorphic region using multiplex polymerase chain reaction(PCR), followed by restriction enzyme digestion and gel electrophoresis. IL-1 RN(VNTR) polymorphism were then evaluated by PCR amplification and fragment size analysis in agarose gel. The allele 2 frequency was 41.3%, 4.3%, 47.8%, and 9.9% for IL-1A(+4845), IL-1B(+3954), IL-1B(-511), and IL-1 RN respectively. The frequency of genotype with allele 2 carriage for IL-1A(+4845), IL-1B(+3954), IL-1B(-511), and IL-1 RN was 77.1%, 7.6%, 63.0%, and 15.2% respectively. The allele 2 frequency in IL-1B(+3954) was significantly higher in female than in male population(p<0.05). The negative association was shown between the presence of allele 2 in IL-1B(-511) and in IL-1B(+3954), and the carriage rate of IL-1B(+3954) allele 2 tended to lower in IL-1B(-511) allele 2(P=0.056). Only 7.3% of children carried the composite genotype of IL-1A(+4845) and IL-1B(+3954). These results suggest that the polymorphism of IL-1B(+3954) and the positive composite genotype was relatively rare in Korean population.

Keywords

References

  1. Genco RJ. Assessment of risk of periodontal disease. Compend Suppl 1994;18:S714-S717
  2. Page RC. The role of inflammatory mediators in the pathogenesis of periodontal disease. J Periodont Res 1991:26:230-242 https://doi.org/10.1111/j.1600-0765.1991.tb01649.x
  3. Masada MP, Persson R, Kenny JS, Lee SW, Page RC. Allison AC. Measurement of interleukin-$1{\alpha}$ and -$1{\beta}$ in gingival crevicular fluid: implications for the pathogenesis of periodontal disease. J Periodont Res 1990;26:156-163
  4. Offenbacher S. Periodontal diseases: pathogenesis. Ann Periodontol 1996;1:821-878 https://doi.org/10.1902/annals.1996.1.1.821
  5. Reynolds JJ, Meikle MC. Mechanisms of connective tissue matrix destruction in periodontitis. Periodontol 2000 1997;14:144-57 https://doi.org/10.1111/j.1600-0757.1997.tb00195.x
  6. Nicklin MJH, Weith A Duff GW. A physical map of the region encompassing the human interleukin-I alpha, beta and the interleukin-I receptor antagonist genes. Genomics 1994;19:382-384 https://doi.org/10.1006/geno.1994.1076
  7. Danis VA, Millington M. Hyland VJ, Grennan D. Cytokine production by normal human monocytes: intersubiect variation and relationship to an IL-1 receptor antagonist (IL-IRa) gene polymorphism. Clin Exp Immunol 1995;99:303-310 https://doi.org/10.1111/j.1365-2249.1995.tb05549.x
  8. Dinarello CA. Interleukin-1, interleukin-1 receptors and interleukin-1 receptor antagonist. Int Rev Immunol 1998;16:457-499 https://doi.org/10.3109/08830189809043005
  9. Cox A, Camp NJ, Nicklin MJ, di Giovine FS, Duff GW. An analysis of linkage disequilibrium in the interleukin-1 gene cluster. using a novel grouping method for multiallelic markers. Am J Hum Genet 1998:62:1180-1188 https://doi.org/10.1086/301817
  10. Kornman KS, di Giovine FS. Genetic variations in cytokine expression: a risk factor for severity of adult periodontitis. Ann Periodontol 1998;3:327-338 https://doi.org/10.1902/annals.1998.3.1.327
  11. Pociot F, Molvig J, Wogensen L, Worsaae H. Nerup J. A Taq I polymorphism in the human interleukin-1 beta(IL-1 beta) gene correlates with IL-1 beta secretion in vitro. Eur J Clin Invest 1992;22:396-402 https://doi.org/10.1111/j.1365-2362.1992.tb01480.x
  12. Tarlow JK. Blackmore AIF, Lennard A, Solari R, Hughes HN, Steinkasser A, Duff GW. Polymorphism in human IL-l receptor antagonist gene intron 2 is caused by variable numbers of an 86-bp tandem repeat. Human Genetics 1993;91 :403-404
  13. Kornman KS, Crane A, Wang HY, di Giovine FS, Newman MG, Pirk FW, Wilson TG Jr, Higginbottom FL, Duff GW The interleukin-1 genotype as a severity factor in adult periodontal disease. J Clin Periodontol 1997;24:72-77 https://doi.org/10.1111/j.1600-051X.1997.tb01187.x
  14. McGuire MK. Nunn ME Prognosis versus actual outcome. IV. The effectiveness of clinical parameters and IL-1 genotype in accurately predicting prognoses and tooth survival. J Periodontol 1999;70:49-56 https://doi.org/10.1902/jop.1999.70.1.49
  15. Armitage GC. Wu Y, Wang HY, Sorrell J, di Giovine FS, Duff Gw. Low prevalence of a periodontitis-associated interleukin-1 composite genotype in individuals of Chinese heritage. J Periodontol 2000;71:164-171 https://doi.org/10.1902/jop.2000.71.2.164
  16. Tai H, Endo M, Shimada Y, Gou E. Orima K. Kobayashi T. Yamazaki K. Yoshie H. Association of interleukin-I receptor antagonist gene polymorphisms with early onset periodontitis in Japanese. J Clin Periodontol 2002;29:882-888 https://doi.org/10.1034/j.1600-051X.2002.291002.x
  17. Shin SY. Kim KH, Park OJ, Kom KK, Ku Y, Yoshie H, Chung CP. Genetic polymorphisms of the periodontally healthy Korean population. J Kor Acad Periodontol 2003:33:739-745
  18. Nam SJ, Chung HJ, Kim OS, Kim YJ, Koh JT. IL-1 gene polymorphisms in Korean periodontitis patients. J Kor Acad Periodontol 2004:34:623-637
  19. Walker SJ, Van Dyke TE, Rich S, Kornman KS, di Giovine FS, Hart TC. Genetic polymorphisms of the IL-$1{\alpha}$ and IL- $1{\beta}$ genes in African-American LJP patients and an African-American control population. J Periodontol 2000;71:723-728 https://doi.org/10.1902/jop.2000.71.5.723
  20. Becker M, Weizenegger M, Bartel J. Reverse hybridization assay for rapid identification of periodontitis-associated interleukin-1 alleles. Clin Lab 1999;45: 499-505
  21. Engebretson SP. Lamster IB. Herrera-Abreu M. Celenti RS. Timms JM. Chaudhary AG. di Giovine FS. Kornman KS. The influence of interleukin gene polymorphism on expression of interleukin-I beta and tumor necrosis factor-alpha in periodontal tissue and gingival crevicular fluid. J Periodontol 1999;70:567-573 https://doi.org/10.1902/jop.1999.70.6.567
  22. McDevitt MJ. Wang HY. Knobelman C. Newman MG. di Giovine FS. Timms H. Duff GW. Kornman KS. Interleukin-1 genetic association with periodontitis in clinical practice. J Periodontol 2000;71:156-163 https://doi.org/10.1902/jop.2000.71.2.156
  23. Diehl SR. Wang YF. Brooks CN. Linkage disequilibrium of interleukin-I genetic polymorphism with early onset periodontitis. J Periodontol 1999;70:418-430 https://doi.org/10.1902/jop.1999.70.4.418
  24. Ehmke B. Kress W. Karch H. Grimm T. Klaiber B. Flemming TF. Interleukin-1 haplotype and periodontal disease progression following therapy. J Clin Periodontol 1999(supp);26:810-813 https://doi.org/10.1111/j.1600-051X.1999.tb02525.x
  25. Parkhill JM. Henning BJW, Chapple ILC. Heasman PA, Taylor JJ. Association of interleukin-1 gene polymorphisms with early onset periodontitis. J Clin Periodontol 2000;27:682-689 https://doi.org/10.1034/j.1600-051x.2000.027009682.x
  26. Caffesee RG. De La Rosa DM. De La Rosa GM. Weltman R. Effect of interleukin -1 gene polymorphism in a periodontally healthy Hispanic polpulation treated with mucogingival surgery. J Clin Periodontol 2002;29:177-181 https://doi.org/10.1034/j.1600-051x.2002.290213.x
  27. Hurme M, Santtila S. IL-1 receptor antagonist (IL-1Ra) plasma level are coordinately regulated by both IL-1Ra and IL-$1{\beta}$ genes. Eur J Immunol 1998:28:2598-2602 https://doi.org/10.1002/(SICI)1521-4141(199808)28:08<2598::AID-IMMU2598>3.0.CO;2-K
  28. Gore EA Sanders JJ, Pandey JP, Palesch Y, Galbraith GM. lnterleukin-1 beta + 3953 allele 2: association with disease status in adult periodontitis. J Clin Periodontol 1998:25:781-785 https://doi.org/10.1111/j.1600-051X.1998.tb02370.x
  29. Anusaksathien O, Sukboon A, Sitthiphong P, Teanpaisan R. Distribution of Interleukin-$1{\beta}$ + 3954 and IL-$1{\alpha}$ - 889 genetic variations in a Thai population group. J Periodontol 2003:74:1796-1802 https://doi.org/10.1902/jop.2003.74.12.1796
  30. Guzman S. Karima M, Wang HY, Van Dyke TE. Association between Interleukin-1 genotype and periodontal disease in a diabetic population. J Periodontol. 2003:74:1183-1190 https://doi.org/10.1902/jop.2003.74.8.1183
  31. Rawlinson A Dalati MHN. Rahman S, Walsh TF, Fairclough AL. Interleukin-1 and IL-1 receptor antagonist in gingival crevicular fluid. J Clin Periodontol 2000; 27:738-743 https://doi.org/10.1034/j.1600-051x.2000.027010738.x
  32. Ishihara Y, Nishihara T, Kuroyanagi T, Shirozu N, Yamagishi E, Ohguchi M, Koide M, Ueda N, Amano K, Noguchi T. Gingival crevicular interleukin-1 and interleukin-1 receptor antagonist levels in periodontally healthy and diseased sites. J Periodont Res 1997;32:524-529 https://doi.org/10.1111/j.1600-0765.1997.tb00568.x
  33. Perrier S, Coussediere C, Dubost JJ, Albuisson E, Sauvezie B. IL-1 receptor antagonist (IL-1RA) gene polymorphism in Sjogren's syndrome and rheumatoid arthritis. Clin Immunol Immunopathol 1998;87:309-313 https://doi.org/10.1006/clin.1998.4520