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

• Published in: The International journal of biological markers Vol. 36; no. 4; pp. 21 - 26
• Main Authors: Cardoso-Duarte, Ligia C.A., Fratelli, Caroline F., Pereira, Alexandre S.R., Souza, Jéssica Nayane Gomes de, Freitas, Renata de Souza, Morais, Rafael Martins de, Sobrinho, Alaor Barra, Sousa Silva, Calliandra M., de Oliveira, Jamila Reis, Oliveira, Diêgo Madureira de, Silva, Izabel Cristina R.
• Format: Journal Article
• Language: English
• Published: London, England SAGE Publications 01.11.2021; Sage Publications Ltd
• Subjects: Alleles; BAX gene; bcl-2-Associated X Protein - genetics; Brazil; Carcinoma; Carcinoma, Papillary - genetics; Case-Control Studies; Gene Frequency; Gene polymorphism; Gene regulation; Genetic Predisposition to Disease; Genotype; Genotype & phenotype; Humans; Medical diagnosis; Papillary thyroid cancer; Polymerase chain reaction; Polymorphism; Polymorphism, Single Nucleotide; Population genetics; Population studies; Restriction fragment length polymorphism; Single-nucleotide polymorphism; Thyroid cancer; Thyroid Neoplasms - epidemiology; Thyroid Neoplasms - genetics; Transcription; Brazil; BAX; thyroid gland neoplasm; cancer; Genetic polymorphism
• ISSN: 1724-6008; 0393-6155; 1724-6008
• DOI: 10.1177/17246008211057576

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 interval (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.