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Association of TNF-α, CTLA4, and PTPN22 polymorphisms with type 1 diabetes and other autoimmune diseases in Brazil.
Tavares, N A C; Santos, M M S; Moura, R; Araújo, J; Guimarães, R L; Crovella, S; Brandão, L A C.
Afiliação
  • Tavares NA; Laboratório de Imunopatologia Keiso Asami, Universidade Federal de Pernambuco, Recife, PE, Brasil.
  • Santos MM; Laboratório de Imunopatologia Keiso Asami, Universidade Federal de Pernambuco, Recife, PE, Brasil.
  • Moura R; Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil.
  • Araújo J; Laboratório de Imunopatologia Keiso Asami, Universidade Federal de Pernambuco, Recife, PE, Brasil.
  • Guimarães RL; Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil.
  • Crovella S; Unidade de Endocrinologia Pediátrica do Hospital das Clínicas, Universidade Federal de Pernambuco, Recife, PE, Brasil.
  • Brandão LA; Laboratório de Imunopatologia Keiso Asami, Universidade Federal de Pernambuco, Recife, PE, Brasil.
Genet Mol Res ; 14(4): 18936-44, 2015 Dec 28.
Article em En | MEDLINE | ID: mdl-26782543
Type 1 diabetes mellitus (T1D) is a complex disorder characterized by an autoimmune response against human pancreatic beta-cells. Patients with T1D can also develop a response toward one or more other factors, such as in autoimmune thyroiditis (AITD) and celiac disease (CD). In the presence of T1D + AITD, the patient is diagnosed with autoimmune polyglandular syndrome type III (APSIII); patients with APSIII may also present with CD. These diseases have a strong genetic component and share many susceptibility genes, suggesting potentially overlapping pathogenic pathways. Polymorphisms in the TNF-α(rs1800629), CTLA-4 (rs231775), and PTPN22 (rs2476601) genes have been previous associated with T1D; however, there is no consensus regarding their role in T1D and scarce literature focusing on AIDT and/or CD. Thus, we analyzed these genetic variants in 205 Northeast Brazilian patients with T1D and with/without AITD and/or CD, and in 308 healthy controls. The PTPN22 gene variants were associated with T1D susceptibility and APSIII [odds ratio (OR) = 2.57 and 2.77, respectively]. CTLA4 rs231775 and TNF-αrs1800629 were not associated with T1D onset in the Brazilian population. However, when comparing APSIII individuals in the T1D only group, we observed an association of the TNF-αSNP in the allelic (P = 0.0442; OR = 0.44) and dominant models (P = 0.0387; OR = 0.40). This study reinforces the importance of CTLA-4 and other variants in unraveling the pathogenic mechanisms of T1D in different populations and in understanding their relationships with the development of other T1D-related autoimmune diseases.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fator de Necrose Tumoral alfa / Diabetes Mellitus Tipo 1 / Proteína Tirosina Fosfatase não Receptora Tipo 22 / Antígeno CTLA-4 Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Humans País/Região como assunto: America do sul / Brasil Idioma: En Revista: Genet Mol Res Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Brasil País de publicação: Brasil

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fator de Necrose Tumoral alfa / Diabetes Mellitus Tipo 1 / Proteína Tirosina Fosfatase não Receptora Tipo 22 / Antígeno CTLA-4 Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Humans País/Região como assunto: America do sul / Brasil Idioma: En Revista: Genet Mol Res Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Brasil País de publicação: Brasil