The rs11755527 polymorphism in the BACH2 gene and type 1 diabetes mellitus: case control study in a Brazilian population

• DOI: 10.20945/2359-3997000000214
• Publication Date: 2020-04-01T16:45:06Z
• Authors: Cristine Dieter; Natália Emerim Lemos; Luiza Emy Dorfman; Guilherme Coutinh...; Taís Silveira Ass...; Daisy Crispim
• Keywords: SNP; TaqMan; Genotype frequency; Minor allele frequency

Objective Type 1 diabetes mellitus (T1DM) is an autoimmune disorder caused by a complex interaction between environmental and genetic risk factors. BTB domain CNC homolog 2 (BACH2) gene encodes transcription factor that acts on the differentiation formation of B T lymphocytes. BACH2 also involved in suppression apoptosis inflammation pancreatic beta-cells, indicating role for it development T1DM. Therefore, aim this study was to evaluate association rs11755527 single nucleotide polymorphism (SNP) with Subjects methods This case-control comprised 475 patients T1DM 598 nondiabetic individuals. The (C/G) SNP genotyped using real-time PCR TaqMan MGB probes. Results Genotype distributions were accordance frequencies predicted Hardy-Weinberg equilibrium case control groups similar (P = 0.729). minor allele frequency 43.6% cases 42.5% controls 0.604). Moreover, G did not differ when considering different inheritance models adjusting age, gender, body mass index, HLA DR/DQ genotypes high-risk Although, well-known associated our population [OR= 7.42 (95% CI 3.34 - 17.0)], influenced SNP. Conclusion seems be Brazilian population.