Department of Biology and Evolution, University of Ferrara, Ferrara, Italy.
Genes Immun. 2011 Sep;12(6):473-80. doi: 10.1038/gene.2011.28. Epub 2011 May 19.
Aggressive periodontitis (AgP) is a multifactorial disease. The distinctive aspect of periodontitis is that this disease must deal with a large number of genes interacting with one another and forming complex networks. Thus, it is reasonable to expect that gene-gene interaction may have a crucial role. Therefore, we carried out a pilot case-control study to identify the association of candidate epistatic interactions between genetic risk factors and susceptibility to AgP, by using both conventional parametric analyses and a higher order interactions model, based on the nonparametric Multifactor Dimensionality Reduction algorithm. We analyzed 122 AgP patients and 246 appropriate periodontally healthy individuals, and genotyped 28 polymorphisms, located within 14 candidate genes, chosen among the principal genetic variants pointed out from literature and having a role in inflammation and immunity. Our analyses provided significant evidence for gene--gene interactions in the development of AgP, in particular, present results: (a) indicate a possible role of two new polymorphisms, within SEPS1 and TNFRSF1B genes, in determining host individual susceptibility to AgP; (b) confirm the potential association between of IL-6 and Fc γ- receptor polymorphisms and the disease; (c) exclude an essential contribution of IL-1 cluster gene polymorphisms to AgP in our Caucasian-Italian population.
侵袭性牙周炎（AgP）是一种多因素疾病。牙周炎的一个显著特点是，这种疾病必须处理大量相互作用并形成复杂网络的基因。因此，可以合理地期望基因-基因相互作用可能起着关键作用。因此，我们进行了一项初步的病例对照研究，通过使用传统的参数分析和基于非参数多因素降维算法的高阶相互作用模型，来确定遗传风险因素与 AgP 易感性之间候选上位性相互作用的关联。我们分析了 122 名 AgP 患者和 246 名牙周健康的个体，并对 28 个多态性进行了基因分型，这些多态性位于 14 个候选基因内，这些候选基因是从文献中指出的主要遗传变异体中选择的，它们在炎症和免疫中起作用。我们的分析为 AgP 发病中的基因-基因相互作用提供了重要证据，特别是以下结果：（a）表明 SEPS1 和 TNFRSF1B 基因内两个新的多态性可能在决定宿主个体对 AgP 的易感性方面发挥作用；（b）证实了 IL-6 和 Fc γ-受体多态性与疾病之间的潜在关联；（c）排除了 IL-1 簇基因多态性对我们的白种意大利人群中 AgP 的重要贡献。
