Mezzavilla Massimo, Navarra Chiara Ottavia, Di Lenarda Roberto, Gasparini Paolo, Bevilacqua Lorenzo, Robino Antonietta
Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste 34137, Italy.
Department of Surgical, Medical and Health Sciences, University of Trieste, Trieste 34149, Italy.
Hum Mol Genet. 2021 Jun 9;30(12):1154-1159. doi: 10.1093/hmg/ddab085.
Periodontitis is a common inflammatory disease characterized by a complex etiology, which is the result of a combination of genetic and environmental factors. Genetic variants linked to the periodontitis disease were already investigated, however, little was known regarding the severity of this disease. Recently, long runs of homozygosity (ROH) were associated with several multifactorial diseases. Therefore, in our work, we tried to assess the role of ROH and periodontitis status. We found an association between the excess of homozygosity owing to ROH and staging of periodontitis. More in detail, the total amount of homozygosity owing to ROH is positively associated with an increased severity of periodontitis (P = 0.0001). Regression tree analysis showed the impact of ROH burden in discriminating individuals with mild periodontitis stages I and II and periodontitis stages III and IV (P < 0.001). Furthermore, ROH mapping highlights several regions associated with a severe status of periodontitis (odds ratio > 1). Among them, we found a total of 33 genes. Interestingly, some of these genes were previously associated with granulocyte or platelet measures, both linked to the onset and the progression of periodontal disease. Our results suggest the not only single variants association test could help to risk assessment but even individual genomic features; furthermore, our ROH mapping highlighted the possible role of multiple genes in periodontal development.
牙周炎是一种常见的炎症性疾病，病因复杂，是遗传和环境因素共同作用的结果。与牙周炎相关的基因变异已经得到研究，然而，对于这种疾病的严重程度知之甚少。最近，长纯合片段（ROH）与几种多因素疾病有关。因此，在我们的研究中，我们试图评估ROH与牙周炎状态的作用。我们发现由于ROH导致的纯合性增加与牙周炎分期之间存在关联。更详细地说，由于ROH导致的纯合性总量与牙周炎严重程度增加呈正相关（P = 0.0001）。回归树分析显示ROH负担在区分轻度牙周炎I期和II期与牙周炎III期和IV期个体中的影响（P < 0.001）。此外，ROH图谱突出了几个与严重牙周炎状态相关的区域（优势比>1）。其中，我们共发现33个基因。有趣的是，这些基因中的一些先前与粒细胞或血小板指标有关，两者都与牙周疾病的发生和进展有关。我们的结果表明，不仅单变异关联测试有助于风险评估，个体基因组特征也有帮助；此外，我们的ROH图谱突出了多个基因在牙周发育中的可能作用。
