Majumder Poulami, Ghosh Sujay, Dey Subrata Kumar
Department of Biotechnology, Centre for Genetic Studies, School of Biotechnology and Biological Sciences, Maulana Abul Kalam Azad University of Technology (Formerly West Bengal University of Technology), Kolkata 700 064, India.
J Genet. 2019 Mar;98.
Chronic periodontitis (CP) is the common form of inflammatory oral disease. Matrix metalloproteinases (MMPs) play a pivotal role in the progression of CP by degrading gingival tissue and its remodelling. Here, we conducted a case-control study to investigate a possible association of single-nucleotide polymorphism of genes and their interaction with CP in the Indian population. A total of 357 DNA samples of venous blood was isolated, of which 157 were identified as CP patients and 200 were healthy individuals. Genotyping of six genes (, , , , and ) was done using polymerase chain reaction following Sanger's method of sequencing. Statistical analyses were performed by SPSS v16.0, R package (SNPassoc). Gene-gene interactions were evaluated by MDR 3.0.2. The frequency of 6A allele of -11715A-6A gene polymorphisms (36%) and G allele of +17G-C gene polymorphisms (34%) were higher in the CP population compared with the healthy population (19% and 24%, respectively). A significant association of T allele of -799C-T gene promoter polymorphism was found with CP (OR = 2.95, 95%CI = 2.16 - 4.04, < 0.0001). Genotypic frequency of -82A-G polymorphism is associated with CP risk while its allelic distribution is not (OR = 1.32, 95%CI = 0.93 - 1.88, = 0.129). Gene-gene interactions show the best cross validation consistency model, i.e. -519A-G X -181A-G X -799C-T polymorphismswith a value of 9/10. This gene-gene interaction shows that the significant association of -799C-T polymorphism with CP increased susceptibility. Allelic distribution of +17G-C and -11715A-6A polymorphisms revealed their protective role towards decreased risk of CP. -519A-G and -181A-G polymorphisms show combinatorial synergistic effect on CP risk.
慢性牙周炎（CP）是炎症性口腔疾病的常见形式。基质金属蛋白酶（MMPs）通过降解牙龈组织及其重塑在CP的进展中起关键作用。在此，我们进行了一项病例对照研究，以调查印度人群中基因单核苷酸多态性及其与CP的相互作用之间的可能关联。共分离出357份静脉血DNA样本，其中157例被鉴定为CP患者，200例为健康个体。采用Sanger测序法通过聚合酶链反应对六个基因（，，，，和）进行基因分型。使用SPSS v16.0、R包（SNPassoc）进行统计分析。通过MDR 3.0.2评估基因-基因相互作用。与健康人群（分别为19%和24%）相比，CP人群中-11715A-6A基因多态性的6A等位基因频率（36%）和+17G-C基因多态性的G等位基因频率（34%）更高。发现-799C-T基因启动子多态性的T等位基因与CP存在显著关联（OR = 2.95，95%CI = 2.16 - 4.04，< 0.0001）。-82A-G多态性的基因型频率与CP风险相关，而其等位基因分布则不然（OR = 1.32，95%CI = 0.93 - 1.88，= 0.129）。基因-基因相互作用显示出最佳的交叉验证一致性模型，即-519A-G X -181A-G X -799C-T多态性，值为9/10。这种基因-基因相互作用表明-799C-T多态性与CP易感性增加之间存在显著关联。+17G-C和-11715A-6A多态性的等位基因分布显示它们对降低CP风险具有保护作用。-519A-G和-181A-G多态性对CP风险显示出组合协同效应。
