During the current reporting period we did not perform any genotyping or analysis in the rheumatoid arthritis project. Genotyping and analysis for two other genetically complex disorders, Behcets disease and systemic onset juvenile idiopathic arthritis, were quite active, and are described in separate Z01 reports (HG200374-02 MGB and HG200370-02 MGB, respectively). We have also begun whole-exome sequencing for small families with possibly Mendelian forms of PFAPA. Analyses of these data are ongoing.

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National Human Genome Research Institute
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Manthiram, Kalpana; Li, Suzanne C; Hausmann, Jonathan S et al. (2017) Physicians' perspectives on the diagnosis and management of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. Rheumatol Int 37:883-889
Manthiram, Kalpana; Lapidus, Sivia; Edwards, Kathryn (2017) Unraveling the pathogenesis of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis through genetic, immunologic, and microbiologic discoveries: an update. Curr Opin Rheumatol 29:493-499
Ombrello, Michael J; Arthur, Victoria L; Remmers, Elaine F et al. (2017) Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications. Ann Rheum Dis 76:906-913
Ombrello, Michael J; Remmers, Elaine F; Tachmazidou, Ioanna et al. (2015) HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis. Proc Natl Acad Sci U S A 112:15970-5
Ombrello, Michael J; Sikora, Keith A; Kastner, Daniel L (2014) Genetics, genomics, and their relevance to pathology and therapy. Best Pract Res Clin Rheumatol 28:175-89
Zhernakova, Alexandra; Stahl, Eli A; Trynka, Gosia et al. (2011) Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. PLoS Genet 7:e1002004
Yang, Yaning; Remmers, Elaine F; Ogunwole, Chukwuma B et al. (2011) Effective sample size: Quick estimation of the effect of related samples in genetic case-control association analyses. Comput Biol Chem 35:40-9
Stojanov, Silvia; Lapidus, Sivia; Chitkara, Puja et al. (2011) Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade. Proc Natl Acad Sci U S A 108:7148-53