Abstract

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.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Investigator-Initiated Intramural Research Projects (ZIA)
Project #
1ZIAHG200371-02
Application #
8565566
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
2
Fiscal Year
2012
Total Cost
$449,187
Indirect Cost

  Institution

Name
National Human Genome Research Institute
Department
Type
DUNS #
City
State
Country
Zip Code

  Publications

Manthiram, Kalpana; Correa, Hernan; Boyd, Kelli et al. (2018) Unique histologic features of tonsils from patients with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. Clin Rheumatol 37:1309-1317
Gourh, Pravitt; Remmers, Elaine F; Boyden, Steven E et al. (2018) Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans. Arthritis Rheumatol 70:1654-1660
Richards, Robert I; Robertson, Sarah A; Kastner, Daniel L (2018) Neurodegenerative diseases have genetic hallmarks of autoinflammatory disease. Hum Mol Genet 27:R108-R118
Arthur, Victoria L; Shuldiner, Emily; Remmers, Elaine F et al. (2018) IL1RN Variation Influences Both Disease Susceptibility and Response to Recombinant Human Interleukin-1 Receptor Antagonist Therapy in Systemic Juvenile Idiopathic Arthritis. Arthritis Rheumatol 70:1319-1330
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
Morgan, Nadia D; Shah, Ami A; Mayes, Maureen D et al. (2017) Clinical and serological features of systemic sclerosis in a multicenter African American cohort: Analysis of the genome research in African American scleroderma patients clinical database. Medicine (Baltimore) 96:e8980
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

Showing the most recent 10 out of 13 publications