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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 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.

Studies have investigated the relationship between periodontitis and the decrement of the bone mineral density (BMD). However, there is limited knowledge on the possible association between BMD-related genes and susceptibility to periodontitis development. To fill this gap, a total of 157 genes, previously associated with BMD, were analyzed in 442 subjects affected by chronic periodontitis. Candidate gene analyses resulted in two RBMS3 deleterious variants, rs55872743 and rs7636555, significantly associated (p-value < 3.28 × 10−06) with periodontitis status. These results will shed new light on the possible role of genes linked to BMD affecting periodontitis.

Objectives Chronic periodontitis is a common pathological condition that affects the supporting tissue of the teeth, leading to progressive alveolar bone destruction and teeth loss. The disease is caused by bacteria and derives from an altered host immune and inflammatory response, also involving different factors such as the oral hygiene, smoking, genetic background etc. The innate immune response, the first line of host defense, could also play an important role in the susceptibility to chronic periodontitis. In this study, we evaluated the possible association between periodontal disease and seven genetic variations within DEFB1 and LTF genes, encoding for β-defensins 1 and lactoferrin (two members of oral innate immune system), in an Italian isolated population. Subjects and Methods DEFB1 5’UTR g.-52G>A (rs1799946), g.-44C>G (rs1800972), g.-20G>A (rs11362), 3’UTR c*5G>A (rs1047031), c*87A>G (rs1800971), LTF p.Ala29Thr (rs1126477) and p.Lys47Arg and (rs1126478) were analyzed in 155 healthy individuals and 439 chronic periodontitis patients from North East Italy. Results Significant associations were found between periodontitis and g.-20G>A (rs11362) and g.-44C>G (rs1800972) SNPs in DEFB1 gene as well as p.Ala29Thr (rs1126477) and p.Lys47Arg (rs1126478) SNPs in LTF gene. Discussion Our results suggest the involvement of DEFB1 and LTF genetic variations in the susceptibility towards development of periodontitis. This article is protected by copyright. All rights reserved.