Replication of the association of chromosomal region 9p21.3with generalized aggressive periodontitis (gAgP) using an independent case-control cohort

BMC Medical Genetics

Research Article

Gerard J Linden¹  Susanne Schulz²  Stefan Reichert²  Jose Gonzales³  Barbara Noack⁴  Peter Eickholz⁵  Peter Meisel⁶  Birte Holtfreter⁶  Thomas Kocher⁶  Jutta Fanghänel⁶  Florian D Ernst⁷  Alexander Teumer⁷  Georg Homuth⁷  Katharina Uhr⁸ 

[1] Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences, Queen's University, Belfast, Northern Ireland, UK;Department of Operative Dentistry and Periodontology Martin-Luther-Universität Halle-Wittenberg, Halle-Wittenberg, Germany;Department of Periodontology, Justus-Liebig-University Giessen, Giessen, Germany;Department of Periodontology, Universitätsklinikum Carl Gustav Carus, Dresden, Germany;Department of Periodontology, ZZMK (Carolinum), Johann Wolfgang Goethe-University Frankfurt, Frankfurt, Germany;Department of Restorative Dentistry, Periodontology, and Endodontology, Unit of Periodontology, Ernst-Moritz-Arndt-University Greifswald, Greifswald, Germany;Interfaculty Institute for Genetics and Functional Genomics, Department of Functional Genomics, Ernst-Moritz-Arndt-University Greifswald, Greifswald, Germany;Interfaculty Institute for Genetics and Functional Genomics, Department of Functional Genomics, Ernst-Moritz-Arndt-University Greifswald, Greifswald, Germany;Department of Medical Oncology, Erasmus MC, Rotterdam, The Netherlands;

关键词: Coronary Heart Disease;    Periodontitis;    Multiplicative Model;    SNPs Rs2891168;    Aggressive Periodontitis;   

DOI  :  10.1186/1471-2350-11-119

 received in 2009-12-23, accepted in 2010-08-09,  发布年份 2010

来源: Springer

【 摘 要 】

BackgroundThe human chromosomal region 9p21.3 has been shown to be strongly associated with Coronary Heart Disease (CHD) in several Genome-wide Association Studies (GWAS). Recently, this region has also been shown to be associated with Aggressive Periodontitis (AgP), strengthening the hypothesis that the established epidemiological association between periodontitis and CHD is caused by a shared genetic background, in addition to common environmental and behavioural risk factors. However, the size of the analyzed cohorts in this primary analysis was small compared to other association studies on complex diseases. Using our own AgP cohort, we attempted to confirm the described associations for the chromosomal region 9p21.3.MethodsWe analyzed our cohort consisting of patients suffering from the most severe form of AgP, generalized AgP (gAgP) (n = 130) and appropriate periodontally healthy control individuals (n = 339) by genotyping four tagging SNPs (rs2891168, rs1333042, rs1333048 and rs496892), located in the chromosomal region 9p21.3, that have been associated with AgP.ResultsThe results confirmed significant associations between three of the four SNPs and gAgP. The combination of our results with those from the study which described this association for the first time in a meta-analysis of the four tagging SNPs produced clearly lower p-values compared with the results of each individual study. According to these results, the most plausible genetic model for the association of all four tested SNPs with gAgP seems to be the multiplicative one.ConclusionWe positively replicated the finding of an association between the chromosomal region 9p21.3 and gAgP. This result strengthens support for the hypothesis that shared susceptibility genes within this chromosomal locus might be involved in the pathogenesis of both CHD and gAgP.

【 授权许可】

Unknown   
© Ernst et al; licensee BioMed Central Ltd. 2010. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.