The rs11755527 polymorphism in the BACH2 gene and type 1 diabetes mellitus: case control study in a Brazilian population
Arch. endocrinol. metab. (Online)
; 64(2): 138-143, Mar.-Apr. 2020. tab
Article
en En
| LILACS
| ID: biblio-1131076
Biblioteca responsable:
BR1.1
ABSTRACT
ABSTRACT Objective Type 1 diabetes mellitus (T1DM) is an autoimmune disorder caused by a complex interaction between environmental and genetic risk factors. BTB domain and CNC homolog 2 (BACH2) gene encodes a transcription factor that acts on the differentiation and formation of B and T lymphocytes. BACH2 is also involved in the suppression of apoptosis and inflammation in pancreatic beta-cells, indicating a role for it in the development of T1DM. Therefore, the aim of this study was to evaluate the association of the BACH2 rs11755527 single nucleotide polymorphism (SNP) with T1DM. Subjects and methods This case-control study comprised 475 patients with T1DM and 598 nondiabetic individuals. The BACH2 rs11755527 (C/G) SNP was genotyped using real-time PCR with TaqMan MGB probes. Results Genotype distributions of rs11755527 SNP were in accordance with frequencies predicted by the Hardy-Weinberg equilibrium in case and control groups and were similar between groups (P = 0.729). The minor allele frequency was 43.6% in cases and 42.5% in controls (P = 0.604). Moreover, the G allele frequency did not differ between groups when considering different inheritance models and adjusting for age, gender, body mass index, and HLA DR/DQ genotypes of high-risk for T1DM. Although, well-known high-risk T1DM HLA DR/DQ genotypes were associated with T1DM in our population [OR= 7.42 (95% CI 3.34 - 17.0)], this association was not influenced by the rs11755527 SNP. Conclusion The BACH2 rs11755527 SNP seems not to be associated with T1DM in a Brazilian population.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
LILACS
Contexto en salud:
1_ASSA2030
/
2_ODS3
Problema de salud:
1_doencas_nao_transmissiveis
/
2_muertes_prematuras_enfermedades_notrasmisibles
Asunto principal:
Predisposición Genética a la Enfermedad
/
Polimorfismo de Nucleótido Simple
/
Diabetes Mellitus Tipo 1
/
Factores de Transcripción con Cremalleras de Leucina de Carácter Básico
Tipo de estudio:
Etiology_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adult
/
Female
/
Humans
/
Male
País/Región como asunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Arch. endocrinol. metab. (Online)
Asunto de la revista:
ENDOCRINOLOGIA
/
METABOLISMO
Año:
2020
Tipo del documento:
Article
País de afiliación:
Brasil