title: Autoimmune diseases - connecting risk alleles with molecular traits of the immune system.
abstract: Genome-wide strategies have driven the discovery of more than 300 susceptibility loci for autoimmune diseases. However, for almost all loci, understanding of the mechanisms leading to autoimmunity remains limited, and most variants that are likely to be causal are in non-coding regions of the genome. A critical next step will be to identify the in vivo and ex vivo immunophenotypes that are affected by risk variants. To do this, key cell types and cell states that are implicated in autoimmune diseases will need to be defined. Functional genomic annotations from these cell types and states can then be used to resolve candidate genes and causal variants. Together with longitudinal studies, this approach may yield pivotal insights into how autoimmunity is triggered.
authors.affiliation: Division of Genetics, and Division of Rheumatology, Immunology and Allergy, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.|Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts 02142, USA.|Partners Center for Personalized Genetic Medicine, Boston, Massachusetts 02115, USA.
authors.forename: Maria
authors.initials: M
authors.lastname: Gutierrez-Arcelus
authors.affiliation: Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia 22908, USA.
authors.forename: Stephen S
authors.initials: SS
authors.lastname: Rich
authors.affiliation: Division of Genetics, and Division of Rheumatology, Immunology and Allergy, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.|Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts 02142, USA.|Partners Center for Personalized Genetic Medicine, Boston, Massachusetts 02115, USA.|Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9PL, UK.|Department of Medicine, Karolinska Institutet and Karolinska University Hospital Solna, Stockholm SE-171 77, Sweden.
authors.forename: Soumya
authors.initials: S
authors.lastname: Raychaudhuri
mesh_terms: D000483:Alleles; D001327:Autoimmune Diseases / Q000453:epidemiology / Q000235:genetics*; D015551:Autoimmunity / Q000235:genetics*; D002874:Chromosome Mapping; D044127:Epigenesis, Genetic; D056426:Genetic Loci / Q000235:genetics; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D023281:Genomics; D006801:Humans; D007107:Immune System / Q000502:physiology*; D016130:Immunophenotyping; D008958:Models, Molecular; D010641:Phenotype; D015995:Prevalence; D012306:Risk