Genetic polymorphism studies in periodontitis and Fcγ receptors

Journal of Periodontal Research

Volumn 47, Issue 3, 2012, Pages 273-285

  Chai, L ^a   Song, Y Q ^b   Leung, W K ^c  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b UNIVERSITY OF HONG KONG   (Hong Kong)

^c UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Fc receptor; Genetics; Periodontitis; Polymorphism; Receptor

Indexed keywords

EID: 84859954530     PISSN: 00223484     EISSN: 16000765     Source Type: Journal    
DOI: 10.1111/j.1600-0765.2011.01437.x     Document Type: Short Survey

References (157)

1. Page RC, Offenbacher S, Schroeder HE, Seymour GJ, Kornman KS. Advances in the pathogenesis of periodontitis: summary of developments, clinical implications and future directions. Periodontol 2000 1997;14:216-248.
2. Lazaridis KN, Juran BD. American Gastroenterological Association future trends committee report: the application of genomic and proteomic technologies to digestive disease diagnosis and treatment and their likely impact on gastroenterology clinical practice. Gastroenterology 2005;129:1720-1752.
3. Shelling AN, Ferguson LR. Genetic variation in human disease and a new role for copy number variants. Mutat Res 2007;622:33-41.
4. Sidransky E. Heterozygosity for a Mendelian disorder as a risk factor for complex disease. Clin Genet 2006;70:275-282.
5. Chakravarti A, Little P. Nature, nurture and human disease. Nature 2003;421:412-414.
6. Juran BD, Lazaridis KN. Applying genomics to the study of complex disease. Semin Liver Dis 2007;27:3-12.
7. Loos BG, John RP, Laine ML. Identification of genetic risk factors for periodontitis and possible mechanisms of action. J Clin Periodontol 2005;32(suppl 6):159-179.
8. Nibali L, Donos N, Henderson B. Periodontal infectogenomics. J Med Microbiol 2009;58:1269-1274.
9. Yoshie H, Kobayashi T, Tai H, Galicia JC. The role of genetic polymorphisms in periodontitis. Periodontol 2000 2007;43:102-132.
10. Kinane DF, Shiba H, Hart TC. The genetic basis of periodontitis. Periodontol 2000 2005;39:91-117.
11. Mout R, Willemze R, Landegent JE. Repeat polymorphisms in the interleukin-4 gene (IL4). Nucleic Acids Res 1991;19:3763.
12. Group T. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;72:971-983.
13. Gusella JF, Wexler NS, Conneally PM et al. A polymorphic DNA marker genetically linked to Huntington's disease. Nature 1983;306:234-238.
14. Riordan JR, Rommens JM, Kerem B et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989;245:1066-1073.
15. Rommens JM, Iannuzzi MC, Kerem B et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989;245:1059-1065.
16. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996;273:1516-1517.
17. Chakravarti A. Population genetics - making sense out of sequence. Nat Genet 1999;21:56-60.
18. Collins FS, Guyer MS, Charkravarti A. Variations on a theme: cataloging human DNA sequence variation. Science 1997;278:1580-1581.
19. Lander ES. The new genomics: global views of biology. Science 1996;274:536-539.
20. Collins FS, Green ED, Guttmacher AE, Guyer MS. A vision for the future of genomics research. Nature 2003;422:835-847.
21. Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, McPherson R, Hobbs HH. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 2004;305:869-872.
22. Crawford DC, Akey DT, Nickerson DA. The patterns of natural variation in human genes. Annu Rev Genomics Hum Genet 2005;6:287-312.
23. Kruglyak L, Nickerson DA. Variation is the spice of life. Nat Genet 2001;27:234-236.
24. Khor CC, Goh DL. Strategies for identifying the genetic basis of dyslipidemia: genome-wide association studies vs. the resequencing of extremes. Curr Opin Lipidol 2010;21:123-127.
25. Janssens AC, van Duijn CM. Genome-based prediction of common diseases: advances and prospects. Hum Mol Genet 2008;17:R166-R173.
26. Manolio TA, Collins FS, Cox NJ et al. Finding the missing heritability of complex diseases. Nature 2009;461:747-753.
27. Wray NR, Goddard ME, Visscher PM. Prediction of individual genetic risk of complex disease. Curr Opin Genet Dev 2008;18:257-263.
28. Cichon S, Craddock N, Daly M et al. Genomewide association studies: history, rationale, and prospects for psychiatric disorders. Am J Psychiatry 2009;166:540-556.
29. Chai L, Corbet EF, Leung WK. Genetic polymorphisms and periodontitis. In: Walchuck RE, ed. Periodontitis: Symptoms, Treatment and Prevention. Public Health in the 21st Century Series. Hauppauge, New York: Nova Science Publishers, Inc., 2010:209-219.
30. Loos BG, Leppers-Van de Straat FG, Van de Winkel JG, Van der Velden U. Fcgamma receptor polymorphisms in relation to periodontitis. J Clin Periodontol 2003;30:595-602.
31. Berken A, Benacerraf B. Properties of antibodies cytophilic for macrophages. J Exp Med 1966;123:119-144.
32. Anderson CL, Shen L, Eicher DM, Wewers MD, Gill JK. Phagocytosis mediated by three distinct Fc gamma receptor classes on human leukocytes. J Exp Med 1990;171:1333-1345.
33. Chan PL, Sinclair NR. Regulation of the immune response. V. An analysis of the function of the Fc portion of antibody in suppression of an immune response with respect to interaction with components of the lymphoid system. Immunology 1971;21:967-981.
34. Phillips NE, Parker DC. Fc-dependent inhibition of mouse B cell activation by whole anti-mu antibodies. J Immunol 1983;130:602-606.
35. Titus JA, Perez P, Kaubisch A, Garrido MA, Segal DM. Human K/natural killer cells targeted with hetero-cross-linked antibodies specifically lyse tumor cells in vitro and prevent tumor growth in vivo. J Immunol 1987;139:3153-3158.
36. Young JD, Ko SS, Cohn ZA. The increase in intracellular free calcium associated with IgG gamma 2b/gamma 1 Fc receptor-ligand interactions: role in phagocytosis. Proc Natl Acad Sci USA 1984;81:5430-5434.
37. Le Coniat M, Kinet JP, Berger R. The human genes for the alpha and gamma subunits of the mast cell receptor for immunoglobulin E are located on human chromosome band 1q23. Immunogenetics 1990;32:183-186.
38. Nimmerjahn F, Ravetch JV. Fcgamma receptors: old friends and new family members. Immunity 2006;24:19-28.
39. Sammartino L, Webber LM, Hogarth PM, McKenzie IF, Garson OM. Assignment of the gene coding for human FcRII (CD32) to bands q23q24 on chromosome 1. Immunogenetics 1988;28:380-381.
40. Takai S, Kasama M, Yamada K et al. Human high-affinity Fc gamma RI (CD64) gene mapped to chromosome 1q21.2-q21.3 by fluorescence in situ hybridization. Hum Genet 1994;93:13-15.
41. Hulett MD, Hogarth PM. Molecular basis of Fc receptor function. Adv Immunol 1994;57:1-127.
42. Ravetch JV, Kinet JP. Fc receptors. Annu Rev Immunol 1991;9:457-492.
43. Davis RS, Dennis G Jr, Odom MR et al. Fc receptor homologs: newest members of a remarkably diverse Fc receptor gene family. Immunol Rev 2002;190:123-136.
44. Mechetina LV, Najakshin AM, Alabyev BY, Chikaev NA, Taranin AV. Identification of CD16-2, a novel mouse receptor homologous to CD16/Fc gamma RIII. Immunogenetics 2002;54:463-468.
45. Nimmerjahn F, Bruhns P, Horiuchi K, Ravetch JV. FcgammaRIV: a novel FcR with distinct IgG subclass specificity. Immunity 2005;23:41-51.
46. Qiu WQ, de Bruin D, Brownstein BH, Pearse R, Ravetch JV. Organization of the human and mouse low-affinity Fc gamma R genes: duplication and recombination. Science 1990;248:732-735.
47. Ravetch JV, Lanier LL. Immune inhibitory receptors. Science 2000;290:84-89.
48. Yuan ZN, Schreurs O, Gjermo P, Helgeland K, Schenck K. Topical distribution of Fc gammaRI, Fc gammaRII and Fc gammaRIII in inflamed human gingiva. J Clin Periodontol 1999;26:441-447.
49. Ogawa T, McGhee ML, Moldoveanu Z et al. Bacteroides-specific IgG and IgA subclass antibody-secreting cells isolated from chronically inflamed gingival tissues. Clin Exp Immunol 1989;76:103-110.
50. van Sorge NM, van der Pol WL, van de Winkel JG. FcgammaR polymorphisms: implications for function, disease susceptibility and immunotherapy. Tissue Antigens 2003;61:189-202.
51. Guyre PM, Morganelli PM, Miller R. Recombinant immune interferon increases immunoglobulin G Fc receptors on cultured human mononuclear phagocytes. J Clin Invest 1983;72:393-397.
52. Radeke HH, Janssen-Graalfs I, Sowa EN et al. Opposite regulation of type II and III receptors for immunoglobulin G in mouse glomerular mesangial cells and in the induction of anti-glomerular basement membrane (GBM) nephritis. J Biol Chem 2002;277:27535-27544.
53. Shushakova N, Skokowa J, Schulman J et al. C5a anaphylatoxin is a major regulator of activating versus inhibitory FcgammaRs in immune complex-induced lung disease. J Clin Invest 2002;110:1823-1830.
54. Okayama Y, Kirshenbaum AS, Metcalfe DD. Expression of a functional high-affinity IgG receptor, Fc gamma RI, on human mast cells: up-regulation by IFN-gamma. J Immunol 2000;164:4332-4339.
55. Nimmerjahn F, Ravetch JV. Divergent immunoglobulin g subclass activity through selective Fc receptor binding. Science 2005;310:1510-1512.
56. Pricop L, Redecha P, Teillaud JL et al. Differential modulation of stimulatory and inhibitory Fc gamma receptors on human monocytes by Th1 and Th2 cytokines. J Immunol 2001;166:531-537.
57. Tridandapani S, Wardrop R, Baran CP et al. TGF-beta 1 suppresses [correction of supresses] myeloid Fc gamma receptor function by regulating the expression and function of the common gamma-subunit. J Immunol 2003;170:4572-4577.
58. Rudge EU, Cutler AJ, Pritchard NR, Smith KG. Interleukin 4 reduces expression of inhibitory receptors on B cells and abolishes CD22 and Fc gamma RII-mediated B cell suppression. J Exp Med 2002;195:1079-1085.
59. Ernst LK, Metes D, Herberman RB, Morel PA. Allelic polymorphisms in the FcgammaRIIC gene can influence its function on normal human natural killer cells. J Mol Med 2002;80:248-257.
60. Metes D, Ernst LK, Chambers WH, Sulica A, Herberman RB, Morel PA. Expression of functional CD32 molecules on human NK cells is determined by an allelic polymorphism of the FcgammaRIIC gene. Blood 1998;91:2369-2380.
61. Ory PA, Goldstein IM, Kwoh EE, Clarkson SB. Characterization of polymorphic forms of Fc receptor III on human neutrophils. J Clin Invest 1989;83:1676-1681.
62. Salmon JE, Millard S, Schachter LA et al. Fc gamma RIIA alleles are heritable risk factors for lupus nephritis in African Americans. J Clin Invest 1996;97:1348-1354.
63. van de Winkel JG, Capel PJ. Human IgG Fc receptor heterogeneity: molecular aspects and clinical implications. Immunol Today 1993;14:215-221.
64. Warmerdam PA, van de Winkel JG, Gosselin EJ, Capel PJ. Molecular basis for a polymorphism of human Fc gamma receptor II (CD32). J Exp Med 1990;172:19-25.
65. Warmerdam PA, van de Winkel JG, Vlug A, Westerdaal NA, Capel PJ. A single amino acid in the second Ig-like domain of the human Fc gamma receptor II is critical for human IgG2 binding. J Immunol 1991;147:1338-1343.
66. Parren PW, Warmerdam PA, Boeije LC et al. On the interaction of IgG subclasses with the low affinity Fc gamma RIIa (CD32) on human monocytes, neutrophils, and platelets. Analysis of a functional polymorphism to human IgG2. J Clin Invest 1992;90:1537-1546.
67. Bredius RG, Fijen CA, De Haas M et al. Role of neutrophil Fc gamma RIIa (CD32) and Fc gamma RIIIb (CD16) polymorphic forms in phagocytosis of human IgG1- and IgG3-opsonized bacteria and erythrocytes. Immunology 1994;83:624-630.
68. Koene HR, Kleijer M, Algra J, Roos D, von dem Borne AE, de Haas M. Fc gammaRIIIa-158V/F polymorphism influences the binding of IgG by natural killer cell Fc gammaRIIIa, independently of the Fc gammaRIIIa-48L/R/H phenotype. Blood 1997;90:1109-1114.
69. Ory PA, Clark MR, Kwoh EE, Clarkson SB, Goldstein IM. Sequences of complementary DNAs that encode the NA1 and NA2 forms of Fc receptor III on human neutrophils. J Clin Invest 1989;84:1688-1691.
70. Yokoyama T, Kobayashi T, Yamamoto K, Yamagata A, Oofusa K, Yoshie H. Proteomic profiling of human neutrophils in relation to immunoglobulin G Fc receptor IIIb polymorphism. J Periodontal Res 2010;45:780-787.
71. Breunis WB, van Mirre E, Geissler J et al. Copy number variation at the FCGR locus includes FCGR3A, FCGR2C and FCGR3B but not FCGR2A and FCGR2B. Hum Mutat 2009;30:E640-E650.
72. Willcocks LC, Lyons PA, Clatworthy MR et al. Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake. J Exp Med 2008;205:1573-1582.
73. McKinney C, Fanciulli M, Merriman ME et al. Association of variation in Fcgamma receptor 3B gene copy number with rheumatoid arthritis in Caucasian samples. Ann Rheum Dis 2010;69:1711-1716.
74. Aitman TJ, Dong R, Vyse TJ et al. Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature 2006;439:851-855.
75. Breunis WB, van Mirre E, Bruin M et al. Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura. Blood 2008;111:1029-1038.
76. Chai L, Song YQ, Zee KY, Leung WK. SNPs of Fc-gamma receptor genes and chronic periodontitis. J Dent Res 2010;89:705-710.
77. Chung HY, Lu HC, Chen WL, Lu CT, Yang YH, Tsai CC. Gm (23) allotypes and Fcgamma receptor genotypes as risk factors for various forms of periodontitis. J Clin Periodontol 2003;30:954-960.
78. Colombo AP, Eftimiadi C, Haffajee AD, Cugini MA, Socransky SS. Serum IgG2 level, Gm(23) allotype and FcgammaRIIa and FcgammaRIIIb receptors in refractory periodontal disease. J Clin Periodontol 1998;25:465-474.
79. de Souza RC, Colombo AP. Distribution of FcgammaRIIa and FcgammaRIIIb genotypes in patients with generalized aggressive periodontitis. J Periodontol 2006;77:1120-1128.
80. Fu Y, Korostoff JM, Fine DH, Wilson ME. Fc gamma receptor genes as risk markers for localized aggressive periodontitis in African-Americans. J Periodontol 2002;73:517-523.
81. Kobayashi T, Sugita N, van der Pol WL et al. The Fcgamma receptor genotype as a risk factor for generalized early-onset periodontitis in Japanese patients. J Periodontol 2000;71:1425-1432.
82. Kobayashi T, Westerdaal NA, Miyazaki A et al. Relevance of immunoglobulin G Fc receptor polymorphism to recurrence of adult periodontitis in Japanese patients. Infect Immun 1997;65:3556-3560.
83. Meisel P, Carlsson LE, Sawaf H, Fanghaenel J, Greinacher A, Kocher T. Polymorphisms of Fc gamma-receptors RIIa, RIIIa, and RIIIb in patients with adult periodontal diseases. Genes Immun 2001;2:258-262.
84. Nibali L, Parkar M, Brett P, Knight J, Tonetti MS, Griffiths GS. NADPH oxidase (CYBA) and FcgammaR polymorphisms as risk factors for aggressive periodontitis: a case-control association study. J Clin Periodontol 2006;33:529-539.
85. Sugita N, Kobayashi T, Ando Y et al. Increased frequency of FcgammaRIIIb-NA1 allele in periodontitis-resistant subjects in an elderly Japanese population. J Dent Res 2001;80:914-918.
86. Sugita N, Yamamoto K, Kobayashi T et al. Relevance of Fc gamma RIIIa-158V-F polymorphism to recurrence of adult periodontitis in Japanese patients. Clin Exp Immunol 1999;117:350-354.
87. Wolf DL, Neiderud AM, Hinckley K, Dahlen G, van de Winkel JG, Papapanou PN. Fcgamma receptor polymorphisms and periodontal status: a prospective follow-up study. J Clin Periodontol 2006;33:691-698.
88. Yamamoto K, Kobayashi T, Grossi S et al. Association of Fcgamma receptor IIa genotype with chronic periodontitis in Caucasians. J Periodontol 2004;75:517-522.
89. Yasuda K, Sugita N, Kobayashi T, Yamamoto K, Yoshie H. FcgammaRIIB gene polymorphisms in Japanese periodontitis patients. Genes Immun 2003;4:541-546.
90. Nicu EA, Van der Velden U, Everts V, Van Winkelhoff AJ, Roos D, Loos BG. Hyper-reactive PMNs in FcgammaRIIa 131 H/H genotype periodontitis patients. J Clin Periodontol 2007;34:938-945.
91. Nibali L, O'Dea M, Bouma G et al. Genetic variants associated with neutrophil function in aggressive periodontitis and healthy controls. J Periodontol 2010;81:527-534.
92. Yamamoto K, Kobayashi T, Sugita N, Tai H, Yoshie H. The FcgammaRIIa polymorphism influences production of interleukin-1 by mononuclear cells. Int J Immunogenet 2007;34:369-372.
93. Shimomura-Kuroki J, Yamashita K, Shimooka S. Tannerella forsythia and the HLA-DQB1 allele are associated with susceptibility to periodontal disease in Japanese adolescents. Odontology 2009;97:32-37.
94. Kobayashi T, van der Pol WL, van de Winkel JG et al. Relevance of IgG receptor IIIb (CD16) polymorphism to handling of Porphyromonas gingivalis: implications for the pathogenesis of adult periodontitis. J Periodontal Res 2000;35:65-73.
95. Honma Y, Sugita N, Kobayashi T, Abiko Y, Yoshie H. Lower antibody response to Porphyromonas gingivalis associated with immunoglobulin G Fcgamma receptor IIB polymorphism. J Periodontal Res 2008;43:706-711.
96. Dimou NL, Nikolopoulos GK, Hamodrakas SJ, Bagos PG. Fcgamma receptor polymorphisms and their association with periodontal disease: a meta-analysis. J Clin Periodontol 2010;37:255-265.
97. Auron PE, Webb AC, Rosenwasser LJ et al. Nucleotide sequence of human monocyte interleukin 1 precursor cDNA. Proc Natl Acad Sci U S A 1984;81:7907-7911.
98. Cameron P, Limjuco G, Rodkey J, Bennett C, Schmidt JA. Amino acid sequence analysis of human interleukin 1 (IL-1). Evidence for biochemically distinct forms of IL-1. J Exp Med 1985;162:790-801.
99. March CJ, Mosley B, Larsen A et al. Cloning, sequence and expression of two distinct human interleukin-1 complementary DNAs. Nature 1985;315:641-647.
100. Kornman KS, Crane A, Wang HY et al. The interleukin-1 genotype as a severity factor in adult periodontal disease. J Clin Periodontol 1997;24:72-77.
101. 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.
102. Walker SJ, Van Dyke TE, Rich S, Kornman KS, di Giovine FS, Hart TC. Genetic polymorphisms of the IL-1alpha and IL-1beta genes in African-American LJP patients and an African-American control population. J Periodontol 2000;71:723-728.
103. 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;35:754-767.
104. Jiang Y, Magli L, Russo M. Bacterium-dependent induction of cytokines in mononuclear cells and their pathologic consequences in vivo. Infect Immun 1999;67:2125-2130.
105. Offenbacher S, Odle BM, Braswell LD et al. Changes in cyclooxygenase metabolites in experimental periodontitis in Macaca mulatta. J Periodontal Res 1989;24:63-74.
106. Ragoussis J, Bloemer K, Weiss EH, Ziegler A. Localization of the genes for tumor necrosis factor and lymphotoxin between the HLA class I and III regions by field inversion gel electrophoresis. Immunogenetics 1988;27:66-69.
107. Chiu YF, Chuang LM, Hsiao CF et al. An autosomal genome-wide scan for loci linked to pre-diabetic phenotypes in nondiabetic Chinese subjects from the Stanford Asia-Pacific Program of Hypertension and Insulin Resistance Family Study. Diabetes 2005;54:1200-1206.
108. Craandijk J, van Krugten MV, Verweij CL, van der Velden U, Loos BG. Tumor necrosis factor-alpha gene polymorphisms in relation to periodontitis. J Clin Periodontol 2002;29:28-34.
109. Donati M, Berglundh T, Hytonen AM, Hahn-Zoric M, Hanson LA, Padyukov L. Association of the -159 CD14 gene polymorphism and lack of association of the -308 TNFA and Q551R IL-4RA polymorphisms with severe chronic periodontitis in Swedish Caucasians. J Clin Periodontol 2005;32:474-479.
110. Endo M, Tai H, Tabeta K, Kobayashi T, Yamazaki K, Yoshie H. Analysis of single nucleotide polymorphisms in the 5′-flanking region of tumor necrosis factor-alpha gene in Japanese patients with early-onset periodontitis. J Periodontol 2001;72:1554-1559.
111. Folwaczny M, Glas J, Torok HP, Mende M, Folwaczny C. Lack of association between the TNF alpha G -308 A promoter polymorphism and periodontal disease. J Clin Periodontol 2004;31:449-453.
112. Galbraith GM, Hendley TM, Sanders JJ, Palesch Y, Pandey JP. Polymorphic cytokine genotypes as markers of disease severity in adult periodontitis. J Clin Periodontol 1999;26:705-709.
113. Kinane DF, Hodge P, Eskdale J, Ellis R, Gallagher G. Analysis of genetic polymorphisms at the interleukin-10 and tumour necrosis factor loci in early-onset periodontitis. J Periodontal Res 1999;34:379-386.
114. Shapira L, Stabholz A, Rieckmann P, Kruse N. Genetic polymorphism of the tumor necrosis factor (TNF)-alpha promoter region in families with localized early-onset periodontitis. J Periodontal Res 2001;36:183-186.
115. Soga Y, Nishimura F, Ohyama H, Maeda H, Takashiba S, Murayama Y. Tumor necrosis factor-alpha gene (TNF-alpha) -1031/-863, -857 single-nucleotide polymorphisms (SNPs) are associated with severe adult periodontitis in Japanese. J Clin Periodontol 2003;30:524-531.
116. Babel N, Cherepnev G, Babel D et al. Analysis of tumor necrosis factor-alpha, transforming growth factor-beta, interleukin-10, IL-6, and interferon-gamma gene polymorphisms in patients with chronic periodontitis. J Periodontol 2006;77:1978-1983.
117. Fraser DA, Loos BG, Boman U et al. Polymorphisms in an interferon-gamma receptor-1 gene marker and susceptibility to periodontitis. Acta Odontol Scand 2003;61:297-302.
118. Reichert S, Machulla HK, Klapproth J et al. Interferon-gamma and interleukin-12 gene polymorphisms and their relation to aggressive and chronic periodontitis and key periodontal pathogens. J Periodontol 2008;79:1434-1443.
119. Gonzales JR, Mann M, Stelzig J, Bodeker RH, Meyle J. Single-nucleotide polymorphisms in the IL-4 and IL-13 promoter region in aggressive periodontitis. J Clin Periodontol 2007;34:473-479.
120. Chai L, Song YQ, Zee KY, Leung WK. Single nucleotide polymorphisms of complement component 5 and periodontitis. J Periodontal Res 2010;45:301-308.
121. Hasegawa K, Tamari M, Shao C et al. Variations in the C3, C3a receptor, and C5 genes affect susceptibility to bronchial asthma. Hum Genet 2004;115:295-301.
122. Hillebrandt S, Wasmuth HE, Weiskirchen R et al. Complement factor 5 is a quantitative trait gene that modifies liver fibrogenesis in mice and humans. Nat Genet 2005;37:835-843.
123. Illera VA, Perandones CE, Stunz LL, Mower DA Jr, Ashman RF. Apoptosis in splenic B lymphocytes. Regulation by protein kinase C and IL-4. J Immunol 1993;151:2965-2973.
124. Mori M, Morris SC, Orekhova T, Marinaro M, Giannini E, Finkelman FD. IL-4 promotes the migration of circulating B cells to the spleen and increases splenic B cell survival. J Immunol 2000;164:5704-5712.
125. Singh RR. IL-4 and many roads to lupuslike autoimmunity. Clin Immunol 2003;108:73-79.
126. Kim JM, Brannan CI, Copeland NG, Jenkins NA, Khan TA, Moore KW. Structure of the mouse IL-10 gene and chromosomal localization of the mouse and human genes. J Immunol 1992;148:3618-3623.
127. Kube D, Platzer C, von Knethen A et al. Isolation of the human interleukin 10 promoter. Characterization of the promoter activity in Burkitt's lymphoma cell lines. Cytokine 1995;7:1-7.
128. Lazarus M, Hajeer AH, Turner D et al. Genetic variation in the interleukin 10 gene promoter and systemic lupus erythematosus. J Rheumatol 1997;24:2314-2317.
129. Wang WY, Barratt BJ, Clayton DG, Todd JA. Genome-wide association studies: theoretical and practical concerns. Nat Rev Genet 2005;6:109-118.
130. Berglundh T, Donati M, Hahn-Zoric M, Hanson LA, Padyukov L. Association of the -1087 IL 10 gene polymorphism with severe chronic periodontitis in Swedish Caucasians. J Clin Periodontol 2003;30:249-254.
131. Gonzales JR, Michel J, Diete A, Herrmann JM, Bodeker RH, Meyle J. Analysis of genetic polymorphisms at the interleukin-10 loci in aggressive and chronic periodontitis. J Clin Periodontol 2002;29:816-822.
132. Scarel-Caminaga RM, Trevilatto PC, Souza AP, Brito RB, Camargo LE, Line SR. Interleukin 10 gene promoter polymorphisms are associated with chronic periodontitis. J Clin Periodontol 2004;31:443-448.
133. Yamazaki K, Tabeta K, Nakajima T et al. Interleukin-10 gene promoter polymorphism in Japanese patients with adult and early-onset periodontitis. J Clin Periodontol 2001;28:828-832.
134. Eskdale J, Kube D, Tesch H, Gallagher G. Mapping of the human IL10 gene and further characterization of the 5′ flanking sequence. Immunogenetics 1997;46:120-128.
135. Wahl SM, Costa GL, Mizel DE, Allen JB, Skaleric U, Mangan DF. Role of transforming growth factor beta in the pathophysiology of chronic inflammation. J Periodontol 1993;64:450-455.
136. Border WA, Noble NA. Fibrosis linked to TGF-beta in yet another disease. J Clin Invest 1995;96:655-656.
137. Fujii D, Brissenden JE, Derynck R, Francke U. Transforming growth factor beta gene maps to human chromosome 19 long arm and to mouse chromosome 7. Somat Cell Mol Genet 1986;12:281-288.
138. de Souza AP, Trevilatto PC, Scarel-Caminaga RM, de Brito RB Jr, Barros SP, Line SR. Analysis of the MMP-9 (C-1562 T) and TIMP-2 (G-418C) gene promoter polymorphisms in patients with chronic periodontitis. J Clin Periodontol 2005;32:207-211.
139. Holla LI, Buckova D, Fassmann A, Halabala T, Vasku A, Vacha J. Promoter polymorphisms in the CD14 receptor gene and their potential association with the severity of chronic periodontitis. J Med Genet 2002;39:844-848.
140. Essner R, Rhoades K, McBride WH, Morton DL, Economou JS. IL-4 down-regulates IL-1 and TNF gene expression in human monocytes. J Immunol 1989;142:3857-3861.
141. Hart PH, Vitti GF, Burgess DR, Whitty GA, Piccoli DS, Hamilton JA. Potential antiinflammatory effects of interleukin 4: suppression of human monocyte tumor necrosis factor alpha, interleukin 1, and prostaglandin E2. Proc Natl Acad Sci USA 1989;86:3803-3807.
142. Sutherland GR, Baker E, Callen DF et al. Interleukin 4 is at 5q31 and interleukin 6 is at 7p15. Hum Genet 1988;79:335-337.
143. Gonzales JR, Kobayashi T, Michel J, Mann M, Yoshie H, Meyle J. Interleukin-4 gene polymorphisms in Japanese and Caucasian patients with aggressive periodontitis. J Clin Periodontol 2004;31:384-389.
144. Kang BY, Choi YK, Choi WH et al. Two polymorphisms of interleukin-4 gene in Korean adult periodontitis. Arch Pharm Res 2003;26:482-486.
145. Michel J, Gonzales JR, Wunderlich D, Diete A, Herrmann JM, Meyle J. Interleukin-4 polymorphisms in early onset periodontitis. J Clin Periodontol 2001;28:483-488.
146. Pontes CC, Gonzales JR, Novaes AB Jr et al. Interleukin-4 gene polymorphism and its relation to periodontal disease in a Brazilian population of African heritage. J Dent 2004;32:241-246.
147. Scarel-Caminaga RM, Trevilatto PC, Souza AP, Brito RB Jr, Line SR. Investigation of IL4 gene polymorphism in individuals with different levels of chronic periodontitis in a Brazilian population. J Clin Periodontol 2003;30:341-345.
148. Park BL, Kim LH, Choi YH et al. Interleukin 3 (IL3) polymorphisms associated with decreased risk of asthma and atopy. J Hum Genet 2004;49:517-527.
149. Yamada R, Tanaka T, Unoki M et al. Association between a single-nucleotide polymorphism in the promoter of the human interleukin-3 gene and rheumatoid arthritis in Japanese patients, and maximum-likelihood estimation of combinatorial effect that two genetic loci have on susceptibility to the disease. Am J Hum Genet 2001;68:674-685.
150. Namkung JH, Lee JE, Kim E et al. IL-5 and IL-5 receptor alpha polymorphisms are associated with atopic dermatitis in Koreans. Allergy 2007;62:934-942.
151. Yamamoto N, Sugiura H, Tanaka K, Uehara M. Heterogeneity of interleukin 5 genetic background in atopic dermatitis patients: significant difference between those with blood eosinophilia and normal eosinophil levels. J Dermatol Sci 2003;33:121-126.
152. He JQ, Ruan J, Chan-Yeung M et al. Polymorphisms of the GM-CSF genes and the development of atopic diseases in at-risk children. Chest 2003;123:438S.
153. Cooper DN, Nussbaum RL, Krawczak M. Proposed guidelines for papers describing DNA polymorphism-disease associations. Hum Genet 2002;110:207-208.
154. Ioannidis JP, Ntzani EE, Trikalinos TA, Contopoulos-Ioannidis DG. Replication validity of genetic association studies. Nat Genet 2001;29:306-309.
155. Ioannidis JP, Ntzani EE, Trikalinos TA. 'Racial' differences in genetic effects for complex diseases. Nat Genet 2004;36:1312-1318.
156. Nejentsev S, Walker N, Riches D, Egholm M, Todd JA. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 2009;324:387-389.
157. Peltonen L, McKusick VA. Genomics and medicine. Dissecting human disease in the postgenomic era. Science 2001;291:1224-1229.