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

Research output: Contribution to journalArticlepeer-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 languageEnglish
Pages (from-to)1075-1080
Number of pages6
JournalHuman Molecular Genetics
Volume5
Issue number7
DOIs
Publication statusPublished - Jul 1996

ASJC Scopus subject areas

  • Genetics

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