BAX gene (−248 G > A) polymorphism in a sample of patients diagnosed with thyroid cancer in the Federal District, Brazil

• Autor(a) principal: Duarte, Ligia C. A. Cardoso
• Data de Publicação: 2021
• Outros Autores: Fratelli, Caroline Ferreira, Pereira, Alexandre Sampaio Rodrigues, Souza, Jéssica Nayane Gomes de, Freitas, Renata de Souza, Morais, Rafael Martins de, Barra Sobrinho, Alaor, Silva, Calliandra Maria de Souza, Oliveira, Jamila Reis de, Oliveira, Diêgo Madureira de, Silva, Izabel Cristina Rodrigues da
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Repositório Institucional da UnB
• Texto Completo: http://repositorio2.unb.br/jspui/handle/10482/46665; https://doi.org/10.1177/17246008211057576; https://orcid.org/0000-0002-9335-999X; https://orcid.org/0000-0002-0511-9452; https://orcid.org/0000-0002-9064-0735; https://orcid.org/0000-0002-9577-0344; https://orcid.org/0000-0002-6836-3583
• topic: Polimorfismo (Genética); Tireóide - câncer

Introduction: Papillary thyroid cancer corresponds to approximately 1% of all carcinomas; nevertheless, it is the most prevalent endocrine neoplasm in the world. Studies reveal that the BAX (−248 G > A) polymorphism may be associated with negative regulation of BAX gene transcription activity, causing a decrease in its protein expression. Objective: The present study aimed to describe the genotype and allele frequencies of BAX single nucleotide polymorphisms (−248 G > A) (rs4645878) in the research patients, and to associate its presence with susceptibility to papillary thyroid cancer. Methods: This case-control study was conducted with 30 patients with papillary thyroid cancer. For the evaluation of genetic polymorphisms, the polymerase chain reaction-restriction fragment length polymorphism technique was employed. Allele and genotype frequencies were estimated using the SPSS program, and significant associations were considered when p < 0.05. Results: There was a significant genotypic difference between papillary thyroid cancer and the control group (p = 0.042). The GG genotype provided a protective factor for papillary thyroid cancer (p = 0.012, odds ratio (OR) = 0.313; confidence inter- val (CI) = 0.123–0.794). Likewise the G allele was a protective factor for papillary thyroid cancer (p = 0.009; OR = 0.360; CI = 0.163–0.793). The BAX gene polymorphism (−248 G > A) was associated with papillary thyroid cancer. Conclusion: BAX (−248 G > A) GG genotype carriers, or at least one mutated allele, was associated with papillary thyroid cancer in the Brazilian population studied, and the G allele presence is considered a protective factor against papillary thyroid cancer occurrence.