Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease

By H. Ueda, J. Howson, L. Esposito, J. Heward, H. Snook, Giselle Chamberlain, Daniel B. Rainbow, K. Hunter, Annabel N. Smith, G. Di Genova and 43 more. Nature, 2003

2,313 citations recorded by the source corpus.

Subfields: Genetics, Immunology

View Paper: https://www.semanticscholar.org/paper/e151484a5a03e1a0ccc462308872d9f7e9ecd0cc

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Citations in the corpus

The emerging role of CTLA4 as a cell-extrinsic regulator of T cell responses (2011, background): “, and genetic variants — including soluble and ligand-independent forms of CTLA4 (see below) — have been associated with autoimmunit”
Control of peripheral T‐cell tolerance and autoimmunity via the CTLA‐4 and PD‐1 pathways (2008, background): “It has been shown recently that the mouse CTLA-4 gene has an alternatively spliced form, ligandindependent CTLA-4 (liCTLA-4), which encodes a molecule completely lacking a ligand-binding domain (76, 77).”
CD28 and CTLA-4 coreceptor expression and signal transduction (2009, background): “Three isoforms of CTLA-4 exist: a full-length isoform (flCTLA-4), a form lacking the ectodomain (CTLA-4i), and a soluble form (sCTLA-4) that lacks exon 3 encoding the transmembrane region (52).”
Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. (2005, neutral): “Until very recently, CTLA4 was the only gene that had been convincingly associated with two different autoimmune diseases—AITD and T1D—but the strength of these associations is rather modest, with odds ratios (ORs) of ∼1.45 and ∼1.15, respectively (Ueda et al. 2003).”
Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4. (2005, methodology): “The CTLA4 result remained significant after we controlled for self-reported thyroiditis (with which CTLA4 demonstrates a genetic association [Ueda et al. 2003]) in the NARAC cohort (OR 1.”
Defective suppressor function in CD4(+)CD25(+) T-cells from patients with type 1 diabetes. (2005, background): “These studies on CTLA-4 expression in the CD25 population will also be important given the added impetus of recent studies implicating genetically determined lower mRNA levels of the soluble splice form of CTLA-4 in susceptibility to autoimmune diseases, including type 1 diabetes (44).”