title: The genetics of systemic lupus erythematosus: understanding how SNPs confer disease susceptibility.
abstract: The identification of genes for autoimmune diseases is just the first step towards our understanding of disease pathogenesis. In investigating how mutations, deletions or other types of polymorphic defects occur, it is important to determine the pathways and the mechanisms through which susceptibility leads to disease. In this review I touch on three examples of studies that have attempted to understand the mechanisms of genetic susceptibility in three genes identified recently for systemic lupus erythematosus: PDCD1, PTPN22 and IRF5. We are just beginning to comprehend and much needs to be done.
authors.affiliation: Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds väg 20, 751 85, Uppsala, Sweden. marta.Alarcon@genpat.uu.se
authors.forename: Marta E
authors.initials: ME
authors.lastname: Alarcón-Riquelme
mesh_terms: D000818:Animals; D015703:Antigens, CD / Q000235:genetics*; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D004198:Disease Susceptibility; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D020641:Polymorphism, Single Nucleotide; D061026:Programmed Cell Death 1 Receptor; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*
chemical_list: D015703:Antigens, CD; D051017:Apoptosis Regulatory Proteins; C431713:IRF5 protein, human; D050835:Interferon Regulatory Factors; C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases