Pimentel Clebson Pantoja, Cortinhas-Alves Erik Artur, de Oliveira Edivaldo Herculano Correa, Santana-da-Silva Luiz Carlos
Laboratório de Erros Inatos do Metabolismo, Instituto de Ciências Fisiológicas, Universidade Federal do Pará, Belém, PA, Brazil.
Departamento de Morfologia e Ciências Fisiológicas, Universidade do Estado do Pará, Belém, PA, Brazil.
J Thyroid Res. 2017;2017:2793205. doi: 10.1155/2017/2793205. Epub 2017 Nov 28.
Recent data have suggested that polymorphisms in the length of the polyalanine tract (polyA) of gene may act as a susceptibility factor for thyroid dysgenesis. The main purpose of this study was to investigate the influence of polyA of gene on the risk of thyroid dysgenesis. A case-control study was conducted in a sample of 90 Brazilian patients with thyroid dysgenesis and 131 controls without family history of thyroid disease. Genomic DNA was isolated from peripheral blood samples and the genotype of each individual was determined by automated sequencing. More than 90% of genotypes found in the group of patients with thyroid dysgenesis and in controls subjects were represented by sizes 14 and 16 polymorphisms in the following combinations: 14/14, 14/16, and 16/16. Genotypes 14/16 and 16/16 were more frequent in the control group, while genotype 14/14 was more frequent in the group of patients with thyroid dysgenesis. There was no difference between agenesis group and control group. Genotype 14/14 when compared to genotypes 14/16 and 16/16A showed an association with thyroid dysgenesis. PolyA of gene alters the risk of thyroid dysgenesis, which may explain in part the etiology of this disease.
最近的数据表明,某基因多聚丙氨酸序列(polyA)长度的多态性可能是甲状腺发育不全的一个易感因素。本研究的主要目的是调查该基因的polyA对甲状腺发育不全风险的影响。对90例患有甲状腺发育不全的巴西患者和131例无甲状腺疾病家族史的对照者进行了病例对照研究。从外周血样本中分离基因组DNA,并通过自动测序确定每个个体的基因型。在甲状腺发育不全患者组和对照者中发现的基因型中,超过90%由以下组合中的14和16多态性大小代表:14/14、14/16和16/16。基因型14/16和16/16在对照组中更常见,而基因型14/14在甲状腺发育不全患者组中更常见。发育不全组与对照组之间没有差异。与基因型14/16和16/16A相比,基因型14/14与甲状腺发育不全有关。该基因的polyA改变了甲状腺发育不全的风险,这可能部分解释了该疾病的病因。