PTPN22: the archetypal non-HLA autoimmunity gene

HLA-DR, HLA-DQB1 and PTPN22 gene polymorphism: association with age at onset for autoimmune diabetes

INTRODUCTION Autoimmune diabetes has different clinical manifestations related to the age at onset. It is divided into several subtypes, including "classical" type 1 diabetes (T1D) and latent autoimmune diabetes in adults (LADA). The LADA is considered a slowly progressing subtype of autoimmune diabetes, although the clinical picture is more similar to type 2 diabetes. MATERIAL AND METHODS Th...

Linkage proof for PTPN22, a rheumatoid arthritis susceptibility gene and a human autoimmunity gene.

The tyrosine phosphatase PTPN22 allele 1858T has been associated with rheumatoid arthritis (RA) and other autoimmune diseases. RA is the most frequent of those multifactorial diseases. The RA association was usually restricted to serum rheumatoid factor positive disease (RF+). No interaction was shown with HLA-DRB1, the first RA gene. Many case-control studies replicated the RA association, sho...

Association of non-HLA genes with type 1 diabetes autoimmunity.

Approximately 50% of the genetic risk for type 1 diabetes is attributable to the HLA region. We evaluated associations between candidate genes outside the HLA region-INS, cytotoxic T-lymphocyte-associated antigen (CTLA)-4, interleukin (IL)-4, IL-4R, and IL-13 and islet autoimmunity among children participating in the Diabetes Autoimmunity Study in the Young (DAISY). Children with persistent isl...

PTPN22 R620W minor allele is a genetic risk factor for giant cell arteritis

Giant cell arteritis (GCA) is one of the commonest forms of vasculitis in the elderly, and may result in blindness and stroke. The pathogenesis of GCA is not understood, although environmental, infectious and genetic risk factors are implicated. One gene of interest is PTPN22, encoding lymphoid protein tyrosine phosphatase (Lyp), expressed exclusively in immune cells, which is proposed to be an...

Role of HLA-DRB1, PTPN22, CTLA4 Gene Polymorphisms in Susceptibility to Rheumatoid Arthritis