The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry |
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| Authors: | Nistico, L Buzzetti, R Pritchard, LE Van der Auwera, B Giovannini, C Bosi, E Larrad, MT Rios, MS Chow, CC Cockram, CS Jacobs, K Mijovic, C Bain, SC Barnett, AH Vandewalle, CL Schuit, F Gorus, FK Tosi, R Pozzilli, P Todd, JA |
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| Affiliation: | Istituto Clinica Medica II, University of Rome La Sapienza, Italy. |
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| Abstract: | Susceptibility to autoimmune insulin-dependent (type 1) diabetes mellitusis determined by a combination of environmental and genetic factors, whichinclude variation in MHC genes on chromosome 6p21 (IDDM1) and the insulingene on chromosome 11p15 (IDDM2). However, linkage to IDDM1 and IDDM2cannot explain the clustering of type 1 diabetes in families, and a rolefor other genes is inferred. In the present report we describe linkage andassociation of type 1 diabetes to the CTLA-4 gene (cytotoxic T lymphocyteassociated-4) on chromosome 2q33 (designated IDDM12). CTLA-4 is a strongcandidate gene for T cell- mediated autoimmune disease because it encodes aT cell receptor that mediates T cell apoptosis and is a vital negativeregulator of T cell activation. In addition, we provide supporting evidencethat CTLA-4 is associated with susceptibility to Graves' disease, anotherorgan- specific autoimmune disease. |
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