Non-HLA associations with autoimmune diseases.
Susceptibility to autoimmune diseases (AID) has been associated with multiple combinations of genes and environmental or stochastic factors. The strongest influence on susceptibility to autoimmunity is the major histocompatibility complex (MHC), in particular HLA; however, linkage analyses among multiple affected family members have established that non-MHC chromosomal susceptibility regions also influence the susceptibility towards AID. Besides HLA, three non-HLA genes have been convincingly associated with different AID: Citotoxic T lymphocyte-associated antigen 4 (CTLA4), Protein Tyrosine Phosphatase (PTPN22) and Tumor Necrosis Factor-alpha (TNF), indicating that autoimmune phenotypes could represent pleiotropic outcomes of non-specific diseases' genes that underline similar immunogenetic mechanisms. Identification of genes that generate susceptibility will enhance our understanding of the mechanisms that mediate these complex diseases and will allow us to predict and/or prevent them as well as to discover new therapeutic interventions.
Serrano
Norma C
NC
Genetics and Human Biology Laboratory, School of Medicine at Universidad Autónoma de Bucaramanga (UNAB), Campus el Bosque, Calle 157 No. 19-55 Cañaveral Parque, Colombia.
Millan
Paula
P
Páez
María-Carolina
MC
D000069594:Abatacept; D001327:Autoimmune Diseases / Q000235:genetics*; D006680:HLA Antigens / Q000235:genetics*; D006801:Humans; D018796:Immunoconjugates / Q000235:genetics; D011110:Polymorphism, Genetic; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases / Q000235:genetics; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics
D006680:HLA Antigens; D018796:Immunoconjugates; D014409:Tumor Necrosis Factor-alpha; D000069594:Abatacept; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases