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

Lorenza Nisticò; Raffaella Buzzetti; Lynn E. Pritchard; Bart Van Der Auwera; Claudio Giovannini; Emanuele Bosi; Maria Teresa Martinez Larrad; Manuel Serrano Rios; C. C. Chow; Clive S. Cockram; Karen Jacobs; Catherine Mijovic; Stephen C. Bain; Anthony H. Barnett; Christina L. Vandewalle; Frans Schuit; Frans K. Gorus; Roberto Tosi; Paolo Pozzilli; John A. Todd

doi:10.1093/hmg/5.7.1075

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

Lorenza Nisticò, Raffaella Buzzetti, Lynn E. Pritchard, Bart Van Der Auwera, Claudio Giovannini, Emanuele Bosi, Maria Teresa Martinez Larrad, Manuel Serrano Rios, C. C. Chow, Clive S. Cockram, Karen Jacobs, Catherine Mijovic, Stephen C. Bain, Anthony H. Barnett, Christina L. Vandewalle, Frans Schuit, Frans K. Gorus, Roberto Tosi, Paolo Pozzilli, John A. Todd

IRCCS Ospedale San Raffaele

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	1075-1080
Number of pages	6
Journal	Human Molecular Genetics
Volume	5
Issue number	7
DOIs	https://doi.org/10.1093/hmg/5.7.1075
Publication status	Published - Jul 1996

ASJC Scopus subject areas

Genetics

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Nisticò, L., Buzzetti, R., Pritchard, L. E., Van Der Auwera, B., Giovannini, C., Bosi, E., Martinez Larrad, M. T., Rios, M. S., Chow, C. C., Cockram, C. S., Jacobs, K., Mijovic, C., Bain, S. C., Barnett, A. H., Vandewalle, C. L., Schuit, F., Gorus, F. K., Tosi, R., Pozzilli, P., & Todd, J. A. (1996). The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Human Molecular Genetics, 5(7), 1075-1080. https://doi.org/10.1093/hmg/5.7.1075

The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. / Nisticò, Lorenza; Buzzetti, Raffaella; Pritchard, Lynn E.; Van Der Auwera, Bart; Giovannini, Claudio; Bosi, Emanuele; Martinez Larrad, Maria Teresa; Rios, Manuel Serrano; Chow, C. C.; Cockram, Clive S.; Jacobs, Karen; Mijovic, Catherine; Bain, Stephen C.; Barnett, Anthony H.; Vandewalle, Christina L.; Schuit, Frans; Gorus, Frans K.; Tosi, Roberto; Pozzilli, Paolo; Todd, John A.

In: Human Molecular Genetics, Vol. 5, No. 7, 07.1996, p. 1075-1080.

Research output: Contribution to journal › Article › peer-review

Nisticò, L, Buzzetti, R, Pritchard, LE, Van Der Auwera, B, Giovannini, C, Bosi, E, Martinez 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 1996, 'The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes', Human Molecular Genetics, vol. 5, no. 7, pp. 1075-1080. https://doi.org/10.1093/hmg/5.7.1075

Nisticò, Lorenza ; Buzzetti, Raffaella ; Pritchard, Lynn E. ; Van Der Auwera, Bart ; Giovannini, Claudio ; Bosi, Emanuele ; Martinez Larrad, Maria Teresa ; Rios, Manuel Serrano ; Chow, C. C. ; Cockram, Clive S. ; Jacobs, Karen ; Mijovic, Catherine ; Bain, Stephen C. ; Barnett, Anthony H. ; Vandewalle, Christina L. ; Schuit, Frans ; Gorus, Frans K. ; Tosi, Roberto ; Pozzilli, Paolo ; Todd, John A. / The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. In: Human Molecular Genetics. 1996 ; Vol. 5, No. 7. pp. 1075-1080.

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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.",

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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.

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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.

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