A genome-wide association study identifies GLT6D1 as a susceptibility locus for periodontitis

Human Molecular Genetics

Volumn 19, Issue 3, 2009, Pages 553-562

  Schaefer, Arne S ^a   Richter, Gesa M ^a   Nothnagel, Michael ^b   Manke, Thomas ^c   Dommisch, Henrik ^d   Jacobs, Gunnar ^a   Arlt, Alexander ^b   Rosenstiel, Philip ^a   Noack, Barbara ^e   Groessner Schreiber, Birte ^b   Jepsen, Søren ^d   Loos, Bruno G ^f   Schreiber, Stefan ^a  

^a UNIVERSITY OF KIEL   (Germany)

^b UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d UNIVERSITY OF BONN   (Germany)

^e UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^f VU UNIVERSITY AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOSYLTRANSFERASE; GUANINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR GATA 3; GATA3 PROTEIN, HUMAN;

ADULT; ALLELE; ARTICLE; BINDING AFFINITY; BINDING SITE; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GERMANY; GINGIVA; HAPLOTYPE; HUMAN; HUMAN CELL; INTRON; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; NETHERLANDS; PATHOPHYSIOLOGY; PERIODONTITIS; PREDICTION; PRIORITY JOURNAL; RISK FACTOR; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; TESTIS; TISSUE SPECIFICITY; AGED; AGGRESSIVE PERIODONTITIS; CASE CONTROL STUDY; CELL LINE; ENZYMOLOGY; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MIDDLE AGED;

ADULT; AGED; AGGRESSIVE PERIODONTITIS; CASE-CONTROL STUDIES; CELL LINE; GATA3 TRANSCRIPTION FACTOR; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 77949895588     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp508     Document Type: Article

References (59)

1. Albandar, J.M. and Rams, T.E. (2002) Global epidemiology of periodontal diseases: an overview. Periodontol. 2000, 29, 7-10.
2. Pihlstrom, B.L., Michalowicz, B.S. and Johnson, N.W. (2005) Periodontal diseases. Lancet, 366, 1809-1820.
3. Petersen, P.E. (2003) The World Oral Health Report 2003: continuous improvement of oral health in the 21st century-the approach of the WHO Global Oral Health Programme. Community Dent. Oral. Epidemiol., 31 (Suppl. 1), 3-23.
4. Bergstrom, J. (2004) Influence of tobacco smoking on periodontal bone height. Long-term observations and a hypothesis. J. Clin. Periodontol., 31, 260-266.
5. Moore, W.E. and Moore, L.V. (1994) The bacteria of periodontal diseases. Periodontol. 2000, 5, 66-77.
6. Paraskevas, S., Huizinga, J.D. and Loos, B.G. (2008) A systematic review and meta-analyses on C-reactive protein in relation to periodontitis. J. Clin. Periodontol., 35, 277-290.
7. Wu, T., Trevisan, M., Genco, R.J., Falkner, K.L., Dorn, J.P. and Sempos, C.T. (2000) Examination of the relation between periodontal health status and cardiovascular risk factors: serum total and high density lipoprotein cholesterol, C-reactive protein, and plasma fibrinogen. Am. J. Epidemiol., 151, 273-282.
8. Bahekar, A.A., Singh, S., Saha, S., Molnar, J. and Arora, R. (2007) The prevalence and incidence of coronary heart disease is significantly increased in periodontitis: a meta-analysis. Am. Heart J., 154, 830-837.
9. Dietrich, T., Jimenez, M., Krall Kaye, E.A., Vokonas, P.S. and Garcia, R.I. (2008) Age-dependent associations between chronic periodontitis/ edentulism and risk of coronary heart disease. Circulation, 117, 1668-1674.
10. Geerts, S.O., Legrand, V., Charpentier, J., Albert, A. and Rompen, E.H. (2004) Further evidence of the association between periodontal conditions and coronary artery disease. J. Periodontol., 75, 1274-1280.
11. Seinost, G., Wimmer, G., Skerget, M., Thaller, E., Brodmann, M., Gasser, R., Bratschko, R.O. and Pilger, E. (2005) Periodontal treatment improves endothelial dysfunction in patients with severe periodontitis. Am. Heart J., 149, 1050-1054.
12. Mealey, B.L. (2006) Periodontal disease and diabetes. A two-way street. J. Am. Dent. Assoc., 137 (Suppl. 26), S-31S.
13. Mercado, F.B., Marshall, R.I. and Bartold, P.M. (2003) Inter-relationships between rheumatoid arthritis and periodontal disease. A review. J. Clin. Periodontol., 30, 761-772.
14. Paju, S. and Scannapieco, F.A. (2007) Oral biofilms, periodontitis, and pulmonary infections. Oral. Dis., 13, 508-512.
15. Scannapieco, F.A. and Genco, R.J. (1999) Association of periodontal infections with atherosclerotic and pulmonary diseases. J. Periodontal. Res., 34, 340-345.
16. Brito, F., de Barros, F.C., Zaltman, C., Carvalho, A.T., Carneiro, A.J., Fischer, R.G., Gustafsson, A. and Figueredo, C.M. (2008) Prevalence of periodontitis and DMFT index in patients with Crohn's disease and ulcerative colitis. J. Clin. Periodontol., 35, 555-560.
17. Söder, B., Jin, L.J., Klinge, B. and Soder, P.O. (2007) Periodontitis and premature death: a 16-year longitudinal study in a Swedish urban population. J. Periodontal. Res., 42, 361-366.
18. Corey, L.A., Nance, W.E., Hofstede, P. and Schenkein, H.A. (1993) Self-reported periodontal disease in a Virginia twin population. J. Periodontol., 64, 1205-1208.
19. Michalowicz, B.S., Diehl, S.R., Gunsolley, J.C., Sparks, B.S., Brooks, C.N., Koertge, T.E., Califano, J.V., Burmeister, J.A. and Schenkein, H.A. (2000) Evidence of a substantial genetic basis for risk of adult periodontitis. J. Periodontol., 71, 1699-1707.
20. Loos, B.G., John, R.P. and Laine, M.L. (2005) Identification of genetic risk factors for periodontitis and possible mechanisms of action. J. Clin. Periodontol., 32 (Suppl. 6), 159-179.
21. Schaefer, A.S., Richter, G.M., Groessner-Schreiber, B., Noack, B., Nothnagel, M., El Mokhtari, N.E., Loos, B.G., Jepsen, S. and Schreiber, S. (2009) Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis. PLoS Genet., 5, e1000378.
22. Matys, V., Fricke, E., Geffers, R., Gossling, E., Haubrock, M., Hehl, R., Hornischer, K., Karas, D., Kel, A.E., Kel-Margoulis, O.V. et al. (2003) TRANSFAC: transcriptional regulation, from patterns to profiles. Nucleic Acids Res., 31, 374-378.
23. Turcot-Dubois, A.L., Le Moullac-Vaidye, B., Despiau, S., Roubinet, F., Bovin, N., Le Pendu, J. and Blancher, A. (2007) Long-term evolution of the CAZY glycosyltransferase 6 (ABO) gene family fromfishes tomammals-a birth-and-death evolution model. Glycobiology, 17, 516-528.
24. Selleck, S.B. (2000) Proteoglycans and pattern formation: sugar biochemistry meets developmental genetics. Trends Genet., 16, 206-212.
25. Perrimon, N. and Bernfield, M. (2000) Specificities of heparan sulphate proteoglycans in developmental processes. Nature, 404, 725-728.
26. Grabher, C., von Boehmer, H. and Look, A.T. (2006) Notch 1 activation in the molecular pathogenesis of T-cell acute lymphoblastic leukaemia. Nat. Rev. Cancer, 6, 347-359.
27. Weinmaster, G. and Kintner, C. (2003) Modulation of notch signaling during somitogenesis. Annu. Rev. Cell. Dev. Biol., 19, 367-395.
28. Henkel, G., Weiss, D.L., McCoy, R., Deloughery, T., Tara, D. and Brown, M.A. (1992) A DNase I-hypersensitive site in the second intron of the murine IL-4 gene defines a mast cell-specific enhancer. J. Immunol., 149, 3239-3246.
29. Okazaki, M., Maeda, G., Chiba, T., Doi, T. and Imai, K. (2009) Identification of GATA3 binding sites in Jurkat cells. Gene, 445, 17-25.
30. Zheng, W. and Flavell, R.A. (1997) The transcription factor GATA-3 is necessary and sufficient for Th2 cytokine gene expression in CD4 T cells. Cell, 89, 587-596.
31. Zhu, J., Min, B., Hu-Li, J., Watson, C.J., Grinberg, A., Wang, Q., Killeen, N., Urban, J.F. Jr, Guo, L. and Paul, W.E. (2004) Conditional deletion of Gata3 shows its essential function in T(H)1-T(H)2 responses. Nat. Immunol., 5, 1157-1165.
32. Kishikawa, H., Sun, J., Choi, A., Miaw, S.C. and Ho, I.C. (2001) The cell type-specific expression of the murine IL-13 gene is regulated by GATA-3. J. Immunol., 167, 4414-4420.
33. Lavenu-Bombled, C., Trainor, C.D., Makeh, I., Romeo, P.H. and Max-Audit, I. (2002) Interleukin-13 gene expression is regulated by GATA-3 in T cells: role of a critical association of a GATA and two GATG motifs. J. Biol. Chem., 277, 18313-18321.
34. Baker, P.J. (2000) The role of immune responses in bone loss during periodontal disease. Microbes Infect., 2, 1181-1192.
35. Yamamoto, M., Fujihashi, K., Hiroi, T., McGhee, J.R., Van Dyke, T.E. and Kiyono, H. (1997) Molecular and cellular mechanisms for periodontal diseases: role of Th1 and Th2 type cytokines in induction of mucosal inflammation. J. Periodontal Res., 32, 115-119.
36. van Hamburg, J.P., Mus, A.M., de Bruijn, M.J., de Vogel, L., Boon, L., Cornelissen, F., Asmawidjaja, P., Hendriks, R.W. and Lubberts, E. (2009) GATA-3 protects against severe joint inflammation and bone erosion and reduces differentiation of Th17 cells during experimental arthritis. Arthritis Rheum., 60, 750-759.
37. Giannopoulou, C., Kamma, J.J. and Mombelli, A. (2003) Effect of inflammation, smoking and stress on gingival crevicular fluid cytokine level. J. Clin. Periodontol., 30, 145-153.
38. Fujihashi, K., Beagley, K.W., Kono, Y., Aicher, W.K., Yamamoto, M., DiFabio, S., Xu-Amano, J., McGhee, J.R. and Kiyono, H. (1993) Gingival mononuclear cells from chronic inflammatory periodontal tissues produce interleukin (IL)-5 and IL-6 but not IL-2 and IL-4. Am. J. Pathol., 142, 1239-1250.
39. Kabashima, H., Nagata, K., Hashiguchi, I., Toriya, Y., Iijima, T., Maki, K. and Maeda, K. (1996) Interleukin-1 receptor antagonist and interleukin-4 in gingival crevicular fluid of patients with inflammatory periodontal disease. J. Oral. Pathol. Med., 25, 449-455.
40. Shapira, L., van Dyke, T.E. and Hart, T.C. (1992) A localized absence of interleukin-4 triggers periodontal disease activity: a novel hypothesis. Med. Hypotheses, 39, 319-322.
41. Tsai, C.C., Ku, C.H., Ho, Y.P., Ho, K.Y., Wu, Y.M. and Hung, C.C. (2007) Changes in gingival crevicular fluid interleukin-4 and interferon-gamma in patients with chronic periodontitis before and after periodontal initial therapy. Kaohsiung J. Med. Sci., 23, 1-7.
42. Bastos, M.F., Lima, J.A., Vieira, P.M., Mestnik, M.J., Faveri, M. and Duarte, P.M. (2009) TNF-alpha and IL-4 levels in generalized aggressive periodontitis subjects. Oral Dis., 15, 82-87.
43. te Velde, A.A., Huijbens, R.J., Heije, K., de Vries, J.E. and Figdor, C.G. (1990) Interleukin-4 (IL-4) inhibits secretion of IL-1 beta, tumor necrosis factor alpha, and IL-6 by human monocytes. Blood, 76, 1392-1397.
44. Spilianakis, C.G. and Flavell, R.A. (2004) Long-range intrachromosomal interactions in the T helper type 2 cytokine locus. Nat. Immunol., 5, 1017-1027.
45. Cai, S., Lee, C.C. and Kohwi-Shigematsu, T. (2006) SATB1 packages densely looped, transcriptionally active chromatin for coordinated expression of cytokine genes. Nat. Genet., 38, 1278-1288.
46. Krawczak, M., Nikolaus, S., von Eberstein, H., Croucher, P.J., El Mokhtari, N.E. and Schreiber, S. (2006) PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships. Community Genet., 9, 55-61.
47. Franke, A., Balschun, T., Karlsen, T.H., Sventoraityte, J., Nikolaus, S., Mayr, G., Domingues, F.S., Albrecht, M., Nothnagel, M., Ellinghaus, D. et al. (2008) Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. Nat. Genet., 40, 1319-1323.
48. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A., Bender, D., Maller, J., Sklar, P., de Bakker, P.I., Daly, M.J. et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet., 81, 559-575.
49. Wigginton, J.E., Cutler, D.J. and Abecasis, G.R. (2005) A note on exact tests of Hardy-Weinberg equilibrium. Am. J. Hum. Genet., 76, 887-893.
50. The R Development Core Team, http://www.r-project.org.
51. Weckx, S., Del-Favero, J., Rademakers, R., Claes, L., Cruts, M., De Jonghe, P., Van Broeckhoven, C. and De Rijk, P. (2005) novoSNP, a novel computational tool for sequence variation discovery. Genome Res., 15, 436-442.
52. de Bakker, P.I., Yelensky, R., Pe'er, I., Gabriel, S.B., Daly, M.J. and Altshuler, D. (2005) Efficiency and power in genetic association studies. Nat. Genet., 37, 1217-1223.
53. Barrett, J.C., Fry, B., Maller, J. and Daly, M.J. (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics, 21, 263-265.
54. Becker, T. and Knapp, M. (2004) A powerful strategy to account for multiple testing in the context of haplotype analysis. Am. J. Hum. Genet., 75, 561-570.
55. Abecasis, G.R. and Cookson, W.O. (2000) GOLD-graphical overview of linkage disequilibrium. Bioinformatics, 16, 182-183.
56. Qin, Z.S., Niu, T. and Liu, J.S. (2002) Partition-ligation-expectationmaximization algorithm for haplotype inference with single-nucleotide polymorphisms. Am. J. Hum. Genet., 71, 1242-1247.
57. Pfaffl, M.W. (2001) A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res., 29, 45.
58. Roider, H.G., Kanhere, A., Manke, T. and Vingron, M. (2007) Predicting transcription factor affinities to DNA from a biophysical model. Bioinformatics, 23, 134-141.
59. Manke, T., Roider, H.G. and Vingron, M. (2008) Statistical modeling of transcription factor binding affinities predicts regulatory interactions. PLoS Comput. Biol., 4, e1000039.