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Association of TNF-α, CTLA4, and PTPN22 polymorphisms with type 1 diabetes and other autoimmune diseases in Brazil.
Genet Mol Res 2015; 14(4):18936-44GM

Abstract

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.

Authors+Show Affiliations

Laboratório de Imunopatologia Keiso Asami, Universidade Federal de Pernambuco, Recife, PE, Brasil.Laboratório de Imunopatologia Keiso Asami, Universidade Federal de Pernambuco, Recife, PE, Brasil. Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil.Laboratório de Imunopatologia Keiso Asami, Universidade Federal de Pernambuco, Recife, PE, Brasil. Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil.Unidade de Endocrinologia Pediátrica do Hospital das Clínicas, Universidade Federal de Pernambuco, Recife, PE, Brasil.Laboratório de Imunopatologia Keiso Asami, Universidade Federal de Pernambuco, Recife, PE, Brasil. Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil.Laboratório de Imunopatologia Keiso Asami, Universidade Federal de Pernambuco, Recife, PE, Brasil. Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil.Laboratório de Imunopatologia Keiso Asami, Universidade Federal de Pernambuco, Recife, PE, Brasil. Departamento de Patologia, Universidade Federal de Pernambuco, Recife, PE, Brasil.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

26782543

Citation

Tavares, N A C., et al. "Association of TNF-α, CTLA4, and PTPN22 Polymorphisms With Type 1 Diabetes and Other Autoimmune Diseases in Brazil." Genetics and Molecular Research : GMR, vol. 14, no. 4, 2015, pp. 18936-44.
Tavares NA, Santos MM, Moura R, et al. Association of TNF-α, CTLA4, and PTPN22 polymorphisms with type 1 diabetes and other autoimmune diseases in Brazil. Genet Mol Res. 2015;14(4):18936-44.
Tavares, N. A., Santos, M. M., Moura, R., Araújo, J., Guimarães, R. L., Crovella, S., & Brandão, L. A. (2015). Association of TNF-α, CTLA4, and PTPN22 polymorphisms with type 1 diabetes and other autoimmune diseases in Brazil. Genetics and Molecular Research : GMR, 14(4), pp. 18936-44. doi:10.4238/2015.December.28.42.
Tavares NA, et al. Association of TNF-α, CTLA4, and PTPN22 Polymorphisms With Type 1 Diabetes and Other Autoimmune Diseases in Brazil. Genet Mol Res. 2015 Dec 28;14(4):18936-44. PubMed PMID: 26782543.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association of TNF-α, CTLA4, and PTPN22 polymorphisms with type 1 diabetes and other autoimmune diseases in Brazil. AU - Tavares,N A C, AU - Santos,M M S, AU - Moura,R, AU - Araújo,J, AU - Guimarães,R L, AU - Crovella,S, AU - Brandão,L A C, Y1 - 2015/12/28/ PY - 2016/1/20/entrez PY - 2016/1/20/pubmed PY - 2016/10/14/medline SP - 18936 EP - 44 JF - Genetics and molecular research : GMR JO - Genet. Mol. Res. VL - 14 IS - 4 N2 - 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. SN - 1676-5680 UR - https://www.unboundmedicine.com/medline/citation/26782543/Association_of_TNF_α_CTLA4_and_PTPN22_polymorphisms_with_type_1_diabetes_and_other_autoimmune_diseases_in_Brazil_ L2 - http://www.geneticsmr.com/articles/5866 DB - PRIME DP - Unbound Medicine ER -