29
May 2003
Autoimmune disorders: Autoimmunity trigger
Autoimmune disorders affect 5% of the population, yet the genes and mechanisms involved have remained obscure. By comparing data from the human and mouse genomes with extensive genetic information from families with and without autoimmune disorders, the CTLA4 gene has been shown to be associated with Graves' disease, autoimmune hypothyroidism and type 1 diabetes. CTLA-4 (cytotoxic T lymphocyte-associated antigen 4) is a receptor on T cells involved in the control of T-cell proliferation and apoptosis, and this work suggests that it is a primary determinant of susceptibility to autoimmune diseases.
Association of the T-cell regulatory gene CTLA4
with susceptibility to autoimmune disease
HIRONORI
UEDA, JOANNA M. M. HOWSON, LAURA ESPOSITO, JOANNE HEWARD, HYWEL SNOOK, GISELLE
CHAMBERLAIN, DANIEL B. RAINBOW, KARA M. D. HUNTER, ANNABEL N. SMITH, GIANFRANCO
DI GENOVA, MATHIAS H. HERR, INGRID DAHLMAN, FELICITY PAYNE, DEBORAH SMYTH, CHRISTOPHER
LOWE, REBECCA C. J. TWELLS, SARAH HOWLETT, BARRY HEALY, SARAH NUTLAND, HELEN E.
RANCE, VIN EVERETT, LUC J. SMINK, ALEX C. LAM, HEATHER J. CORDELL, NEIL M. WALKER,
CRISTINA BORDIN, JOHN HULME, COSTANTINO MOTZO, FRANCESCO CUCCA, J. FRED HESS,
MICHAEL L. METZKER, JANE ROGERS, SIMON GREGORY, AMIT ALLAHABADIA, RATNASINGAM
NITHIYANANTHAN, EVA TUOMILEHTO-WOLF, JAAKKO TUOMILEHTO, POLLY BINGLEY, KATHLEEN
M. GILLESPIE, DAG E. UNDLIEN, KJERSTI S. RØNNINGEN, CRISTIAN GUJA, CONSTANTIN
IONESCU-TÎRGOVIŞTE, DAVID A. SAVAGE, A. PETER MAXWELL, DENNIS J.
CARSON, CHRIS C. PATTERSON, JAYNE A. FRANKLYN, DAVID G. CLAYTON, LAURENCE B. PETERSON,
LINDA S. WICKER, JOHN A. TODD & STEPHEN C. L. GOUGH
Nature 423,
506–511 (2003); doi:10.1038/nature01621
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