TY - JOUR
T1 - The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes
AU - Nisticò, Lorenza
AU - Buzzetti, Raffaella
AU - Pritchard, Lynn E.
AU - Van Der Auwera, Bart
AU - Giovannini, Claudio
AU - Bosi, Emanuele
AU - Martinez Larrad, Maria Teresa
AU - Rios, Manuel Serrano
AU - Chow, C. C.
AU - Cockram, Clive S.
AU - Jacobs, Karen
AU - Mijovic, Catherine
AU - Bain, Stephen C.
AU - Barnett, Anthony H.
AU - Vandewalle, Christina L.
AU - Schuit, Frans
AU - Gorus, Frans K.
AU - Tosi, Roberto
AU - Pozzilli, Paolo
AU - Todd, John A.
PY - 1996/7
Y1 - 1996/7
N2 - 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.
AB - 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.
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U2 - 10.1093/hmg/5.7.1075
DO - 10.1093/hmg/5.7.1075
M3 - Article
C2 - 8817351
AN - SCOPUS:8944259914
VL - 5
SP - 1075
EP - 1080
JO - Human Molecular Genetics
JF - Human Molecular Genetics
SN - 0964-6906
IS - 7
ER -