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Open Access Research article

Genome wide association scan for chronic periodontitis implicates novel locus

Ping Feng13, Xiaojing Wang1, Priscila L Casado4, Erika C Küchler1, Kathleen Deeley1, Jacqueline Noel1, Hyongsup Kimm1, Ji-Hye Kim1, Alex N Haas6, Valquiria Quinelato4, Leticia L Bonato5, Jose M Granjeiro47, Cristiano Susin8 and Alexandre R Vieira12*

Author Affiliations

1 Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, 3501 Terrace Street, Pittsburgh, PA 15261, USA

2 Department of Pediatric Dentistry, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA

3 Guiyang Stomatological Hospital, Guiyang, Guizhou, China

4 Research Division, Orthopedics and Traumatology National Institute, Rio de Janeiro, RJ, Brazil

5 Clinical Research Unit and Biology Institute, Federal Fluminense University, Niterói, RJ, Brazil

6 Department of Periodontology, Faculty of Dentistry, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil

7 National Institute of Metrology, Quality and Technology, Rio de Janeiro, RJ, Brazil

8 Department of Periodontics, Georgia Regents University College of Dental Medicine, Augusta, GA, USA

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BMC Oral Health 2014, 14:84  doi:10.1186/1472-6831-14-84

Published: 9 July 2014

Abstract

Background

There is evidence for a genetic contribution to chronic periodontitis. In this study, we conducted a genome wide association study among 866 participants of the University of Pittsburgh Dental Registry and DNA Repository, whose periodontal diagnosis ranged from healthy (N = 767) to severe chronic periodontitis (N = 99).

Methods

Genotypingi of over half-million single nucleotide polymorphisms was determined. Analyses were done twice, first in the complete dataset of all ethnicities, and second including only samples defined as self-reported Whites. From the top 100 results, twenty single nucleotide polymorphisms had consistent results in both analyses (borderline p-values ranging from 1E-05 to 1E-6) and were selected to be tested in two independent datasets derived from 1,460 individuals from Porto Alegre, and 359 from Rio de Janeiro, Brazil. Meta-analyses of the Single nucleotide polymorphisms showing a trend for association in the independent dataset were performed.

Results

The rs1477403 marker located on 16q22.3 showed suggestive association in the discovery phase and in the Porto Alegre dataset (p = 0.05). The meta-analysis suggested the less common allele decreases the risk of chronic periodontitis.

Conclusions

Our data offer a clear hypothesis to be independently tested regarding the contribution of the 16q22.3 locus to chronic periodontitis.

Keywords:
Periodontitis; Chronic periodontitis; Aggressive periodontitis; Genetics; Medical genetics; Genetic polymorphism