The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry
| Autor: | Stephen C. Bain, Lorenza Nisticò, Paolo Pozzilli, Emanuele Bosi, Frans Gorus, M S Rios, Frans Schuit, Raffaella Buzzetti, Roberto Tosi, K. H. Jacobs, Clive S. Cockram, L E Pritchard, A. H. Barnett, C. C. Chow, María Teresa Martínez Larrad, B. Van der Auwera, C L Vandewalle, Catherine H. Mijovic, C Giovannini, John A. Todd |
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| Rok vydání: | 1996 |
| Předmět: |
Candidate gene
Immunoconjugates Genetic Linkage T cell Biology Major histocompatibility complex Nuclear Family Abatacept Antigens CD Genetic linkage Genetics medicine Humans Point Mutation Cytotoxic T cell CTLA-4 Antigen Genetic Predisposition to Disease Molecular Biology Genetics (clinical) Type 1 diabetes Polymorphism Genetic Exons General Medicine medicine.disease Antigens Differentiation Graves Disease Diabetes Mellitus Type 1 medicine.anatomical_structure CTLA-4 Case-Control Studies Chromosomes Human Pair 2 biology.protein TCF7L2 |
| Zdroj: | Human Molecular Genetics. 5:1075-1080 |
| ISSN: | 1460-2083 |
| DOI: | 10.1093/hmg/5.7.1075 |
| Popis: | Susceptibility to autoimmune insulin-dependent (type 1) diabetes mellitus is determined by a combination of environmental and genetic factors, which include variation in MHC genes on chromosome 6p21 (IDDM1) and the insulin gene on chromosome 11p15 (IDDM2). However, linkage to IDDM1 and IDDM2 cannot explain the clustering of type 1 diabetes in families, and a role for other genes is inferred. In the present report we describe linkage and association of type 1 diabetes to the CTLA-4 gene (cytotoxic T lymphocyte associated-4) on chromosome 2q33 (designated IDDM12). CTLA-4 is a strong candidate gene for T cell-mediated autoimmune disease because it encodes a T cell receptor that mediates T cell apoptosis and is a vital negative regulator of T cell activation. In addition, we provide supporting evidence that CTLA-4 is associated with susceptibility to Graves' disease, another organ-specific autoimmune disease. |
| Databáze: | OpenAIRE |
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