do Nascimento Rechia Bruna Cristina, Michels Bruna, Faturri Aluhe Lopes, de Paiva Bertoli Fernanda Mara, Scariot Rafaela, de Souza Juliana Feltrin, Küchler Erika Calvano, Brancher João Armando
J Clin Pediatr Dent. 2020 Sep 1;44(5):364-372. doi: 10.17796/1053-4625-44.5.12.
Temporomandibular disorder (TMD) is considered a functional disorder with multifactorial aspects. The goal of this study was to investigate if genetic polymorphisms in the COL2A1 gene could be associated with TMD in adolescents.
The case group (TMD-affected) included individuals diagnosed with any of the following TMD subgroups according to the RDC/TMD criteria: myofascial pain, disc displacements and arthralgia. Genomic DNA for molecular analysis was extracted from buccal cells and genetic polymorphisms in COL2A1 were genotyped by real time polymerase chain reactions using the TaqMan assay. Data were analyzed using the Epi Info 3.5.7 and Stata software.
249 subjects were included in this study (148 subjects "affected" by TMD). There were no significant differences between the affected and unaffected individual (p>0.05), for TMD, arthralgia and myofascial pain however, rs2276454 was borderline in the genotype distribution (p=0.07) and was associated with disc displacement (p=0.03) in the allelic distribution. Recessive model showed significant differences between groups for with disc displacement (p=0.02).
Genetic polymorphisms in COL2A1 are not associated with myofascial pain, arthralgia or TMD in adolescents but this study provides evidence that rs2276454 is involved in the disc displacement of the temporomandibular joint.
颞下颌关节紊乱病(TMD)被认为是一种具有多因素的功能性疾病。本研究的目的是调查COL2A1基因的遗传多态性是否与青少年TMD相关。
病例组(患TMD)包括根据RDC/TMD标准被诊断为以下任何一种TMD亚组的个体:肌筋膜疼痛、盘移位和关节痛。从颊细胞中提取用于分子分析的基因组DNA,并使用TaqMan分析通过实时聚合酶链反应对COL2A1中的遗传多态性进行基因分型。使用Epi Info 3.5.7和Stata软件分析数据。
本研究纳入了249名受试者(148名受TMD“影响”的受试者)。对于TMD、关节痛和肌筋膜疼痛,患病个体与未患病个体之间无显著差异(p>0.05),然而,rs2276454在基因型分布中处于临界值(p=0.07),并且在等位基因分布中与盘移位相关(p=0.03)。隐性模型显示盘移位组间存在显著差异(p=0.02)。
COL2A1基因的遗传多态性与青少年的肌筋膜疼痛、关节痛或TMD无关,但本研究提供了证据表明rs2276454参与颞下颌关节的盘移位。