title: Finding genes for SLE: complex interactions and complex populations.
abstract: Many years of work, multiplex family collection and endless genotyping finally give fruit. The original aim cannot be lost. The aim is not only to identify mutations involved in susceptibility for systemic lupus erythematosus (SLE) but to elucidate the disease pathogenesis as well. After genetics comes the biology. We review our recent findings on the genetics of lupus, provide possible mechanisms for disease susceptibility and present some facts on the problematic of identifying susceptibility mutations for complex diseases in complex human populations.
authors.affiliation: Unit for Medical Genetics, Department of Genetics and Pathology, Rudbeck Laboratory, University of Uppsala, Dag Hammarskjölds väg 20, Uppsala 75185, Sweden. marta.alarcon@genpat.uu.se
authors.forename: Marta E
authors.initials: ME
authors.lastname: Alarcón-Riquelme
authors.forename: Ludmila
authors.initials: L
authors.lastname: Prokunina
mesh_terms: D015703:Antigens, CD; D000954:Antigens, Surface / Q000235:genetics; D051017:Apoptosis Regulatory Proteins; D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins / Q000235:genetics; D004742:Enhancer Elements, Genetic; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000209:etiology / Q000235:genetics*; D061026:Programmed Cell Death 1 Receptor; D011518:Proto-Oncogene Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
chemical_list: D015703:Antigens, CD; D000954:Antigens, Surface; D051017:Apoptosis Regulatory Proteins; D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins; C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor; D011518:Proto-Oncogene Proteins; D014157:Transcription Factors