Analysis of alpha defensin variation in samples from periodontitis patients

Abstract

Background: In recent years, many studies have found positive associations between copy number variants and predisposition to human complex disease. On chromosome 8p23.1, a copy number variation locus, named DEFA1A3 is associated with susceptibility to IgA nephropathy, and is more generally thought to be involved in the host immune response in people with periodontitis. Objective: The main objective of this study was to undertake DEFA1A3 copy number measurement in 744 European samples with periodontitis and also to determine if there is an association between the copy numbers and periodontitis. Results and Conclusions: In this study we have used the Paralogue Ratio Tests to type 741 DNA samples from individuals with periodontitis and assessed the accuracy in typing copy number. As a second part of our work, we have found that there is an association between copy number distribution and periodontitis, but further work needs to be done in order to fully confirm and explore this conclusion