The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry

Lorenza Nisticò; Raffaella Buzzetti; L E Pritchard; Bart Van Der Auwera; Claudio Giovannini; Emanuele Bosi; Maria Teresa Martínez Larrad; Manuel Serrano‐Ríos; C. C. Chow; C. S. Cockram; K. H. Jacobs; C. Mijovic; Steve Baín; A H Barnett; Christina Vandewalle; Frans Schuit; Frans Gorus; Roberto Tosi; Paolo Pozzilli; John A. Todd

doi:10.1093/hmg/5.7.1075

Abstract

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.

Keywords

BiologyGeneticsMajor histocompatibility complexChromosomeGeneGenetic linkageCandidate geneCTLA-4Type 2 diabetesImmunologyT cellDiabetes mellitusEndocrinologyImmune system

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Publication Info

Year: 1996
Type: article
Volume: 5
Issue: 7
Pages: 1075-1080
Citations: 796
Access: Closed

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APA Style

                            
                                
                                    Lorenza Nisticò, 
                                
                                    Raffaella Buzzetti, 
                                
                                    L E Pritchard
                                
                                et al.
                            
                            (1996). 
                            The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry. 
                            Human Molecular Genetics
                            , 5
                            (7)
                            , 1075-1080.
                            https://doi.org/10.1093/hmg/5.7.1075
                        

Identifiers

DOI: 10.1093/hmg/5.7.1075