title: Clinical perspectives on lupus genetics: advances and opportunities.
abstract: In recent years, genome-wide association studies have led to an expansion in the identification of regions containing confirmed genetic risk variants within complex human diseases, such as systemic lupus erythematosus (SLE). Many of the strongest SLE genetic associations can be divided into groups based on their potential roles in different processes implicated in lupus pathogenesis, including ubiquitination, DNA degradation, innate immunity, cellular immunity, lymphocyte development, and antigen presentation. Recent advances have also shown several genetic associations with SLE subphenotypes and subcriteria. Many areas for further exploration remain to move lupus genetic studies toward clinically informative end points.
authors.affiliation: Oklahoma Clinical & Translational Science Institute, University of Oklahoma Health Sciences Center, 920 Stanton L Young Boulevard, Oklahoma City, OK 73104, USA; Departments of Medicine, Pathology, Microbiology & Immunology, University of Oklahoma Health Sciences Center, 920 Stanton L Young Boulevard, Oklahoma City, OK 73104, USA. Electronic address: judith-james@omrf.org.
authors.forename: Judith A
authors.initials: JA
authors.lastname: James
mesh_terms: D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D007109:Immunity / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000150:complications / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D054875:Ubiquitination / Q000235:genetics*
keywords: Autoantibodies; Clinical subphenotypes; GWAS; Genetics; Lupus; Nephritis; SLE