Calvano Küchler E, Arid J, Palinkas M, Ayumi Omori M, de Lara R M, Napolitano Gonçalves L M, Hallak Regalo S C, Paes Torres Mantovani C, Rezende Vieira A, Diaz-Serrano K
J Clin Pediatr Dent. 2020;44(3):180-184. doi: 10.17796/1053-4625-44.3.8. Epub 2020 Jun 17.
Bruxism is a condition defined as a masticatory muscle activity with an unexplored genetic background. The aim of this study was to evaluate the association between genetic polymorphisms in ACTN3 and bruxism. A total of 151 biological-unrelated children, aged 7-12 years were included in a case control ratio of 1:1.5. The data collection was performed during interview and clinical examination. Saliva samples were collected from all children and 3 genetic polymorphisms in the ACTN3 (rs678397, rs1671064 and rs1815739) were selected for genotyping using real time PCR. Pearson chisquare calculation was used to assess Hardy-Weinberg equilibrium and to evaluate the association between genotypes and alleles frequencies for each genetic polymorphism in the co-dominant and recessive models. An alpha of 5% was used. The genetic polymorphisms rs678397, rs1671064 and rs1815739 were associated with bruxism in the co-dominate model and in the recessive model (p<0.05). Allele distribution was also associated with bruxism for the polymorphisms rs678397 and rs1671064 (p<0.05). The genetic polymorphisms rs678397, rs1671064 and rs1815739 in ACTN3 are associated with bruxism and can contribute to the etiology of this condition in children.
磨牙症是一种咀嚼肌活动的病症，其遗传背景尚未明确。本研究旨在评估α-辅肌动蛋白3（ACTN3）基因多态性与磨牙症之间的关联。共纳入151名7至12岁无血缘关系的儿童，病例对照比例为1:1.5。通过访谈和临床检查收集数据。采集所有儿童的唾液样本，并选择ACTN3基因中的3个基因多态性位点（rs678397、rs1671064和rs1815739），采用实时聚合酶链反应进行基因分型。使用Pearson卡方计算评估哈迪-温伯格平衡，并在共显性和隐性模型中评估每个基因多态性的基因型和等位基因频率之间的关联。显著性水平设定为5%。基因多态性位点rs678397、rs167,1064和rs1815739在共显性模型和隐性模型中均与磨牙症相关（p<0.05）。rs678397和rs1671064这两个多态性位点的等位基因分布也与磨牙症相关（p<0.05）。ACTN3基因中的rs678397、rs1671064和rs1815739基因多态性与磨牙症相关，可能是儿童磨牙症病因的一个因素。
