Abstracts tagged "genomics and polymorphism"

Abstract Number: 3225 • 2015 ACR/ARHP Annual Meeting
Whole Exome Sequencing Identifies Rare Protein-Coding Variants in Behcet’s Disease
Mikhail Ognenovski¹, Paul Renauer¹, Ina Koetter², Joerg C. Henes³, Bruno Casali⁴, Carlo Salvarani⁵, Haner Direskeneli⁶, Kenneth M. Kaufman⁷ and Amr H. Sawalha¹, ¹Division of Rheumatology, University of Michigan, Ann Arbor, MI, ²Internal Medicine IV Rheumatology, Asklepios Klinik Altona, Hamburg, Germany, ³Department of Internal Medicine II, Rheumatology Division, University Hospital Tuebingen, Tuebingen, Germany, ⁴Divisione di Biologia Molecolare, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy, ⁵Rheumatology, Arcispedale S.Maria Nuova, Reggio Emilia, Italy, ⁶Department of Rheumatology, Marmara University Faculty of Medicine, Istanbul, Turkey, ⁷Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Behcet’s disease (BD) is a systemic inflammatory disease characterized by recurrent oral and genital ulcers, skin lesions, uveitis, and other organ complications such as…
Abstract Number: 858 • 2012 ACR/ARHP Annual Meeting
Dense Genotyping, Imputation, and Regression Analysis Identifies Multiple Independent Genetic Susceptibility Loci within the HLA Region in Behcet’s Disease
Travis Hughes¹, Adam Adler², Patrick S. Coit¹, Vuslat Yilmaz³, Kenan Aksu⁴, Nursen Duzgun⁵, Gokhan Keser⁴, Ayse Cefle⁶, Ayten Yazici⁶, Andac Ergen⁷, Erkan Alpsoy⁸, Carlo Salvarani⁹, Bruno Casali¹⁰, Ina Koetter¹¹, Javier Gutierrez-Achury¹², Cisca Wijmenga¹², Haner Direskeneli¹³, Guher Saruhan-Direskeneli¹⁴ and Amr H. Sawalha¹, ¹Division of Rheumatology, University of Michigan, Ann Arbor, MI, ²Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ³Istanbul University, Istanbul Faculty of Medicine, Department of Physiology, Istanbul, Turkey, ⁴Dept. of Internal Medicine, Division of Rheumatology, Ege University, Izmir, Turkey, ⁵Ankara University, Ankara, Turkey, ⁶Department of Rheumatology, Kocaeli University, Kocaeli, Turkey, ⁷Okmeydaný Research and Education Hospital, Istanbul, Turkey, ⁸Department of Dermatology, Akdeniz University, Antalya, Turkey, ⁹Rheumatology, Arcispedale S Maria Nuova-IRCCS, Reggio Emilia, Italy, ¹⁰Molecular Biology Laboratory, Arcispedale S. Maria Nuova,, Reggio Emilia, Italy, ¹¹Robert Bosch Krankenhaus, Stuttgart, Germany, ¹²Department of Genetics, University Medical Hospital Groningen, University of Groningen, Groningen, Netherlands, ¹³Rheumatology, Marmara University, School of Medicine, Istanbul, Turkey, ¹⁴Department of Physiology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey
Background/Purpose: The genetic association between HLA-B51 and Behcet’s disease is well established. However, localizing this genetic effect and exploring additional susceptibility loci within the HLA…
Abstract Number: 1535 • 2012 ACR/ARHP Annual Meeting
Genetic Background of Antineutrophil Cytoplasmic Antibody-Associated Vasculitis in a Japanese Population: Association of STAT4 with Myeloperoxidase Antineutrophil Cytoplasmic Antibody-Positive Vasculitis
Aya Kawasaki¹, Naoya Inoue¹, Chihiro Ajimi¹, Ikue Ito¹, Ken-ei Sada², Shigeto Kobayashi³, Hidehiro Yamada⁴, Hiroshi Furukawa⁵, Makoto Tomita⁶, Takayuki Sumida⁷, Shigeto Tohma⁸, Nobuyuki Miyasaka⁹, Shoichi Ozaki⁴, Hiroshi Hashimoto¹⁰, Hiroshi Makino², Masayoshi Harigai¹¹ and Naoyuki Tsuchiya¹, ¹Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ²Department of Medicine and Clinical Science, Okayama University, Okayama, Japan, ³Department of Internal Medicine, Juntendo University Koshigaya Hospital, Tokyo, Japan, ⁴Internal Medicine, St. Marianna University, Kawasaki, Japan, ⁵Clinical Research Center for Allergy and Rheumatology, Sagamihara Hospital, National Hospital Organization, Sagamihara, Japan, ⁶Clinical Research Center, Tokyo Medical and Dental University, Tokyo, Japan, ⁷Department of Internal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁸Clinical Research Center for Allergy and Rheumatology, Sagamihara National Hospital, National Hospital Organization, Sagamihara, Japan, ⁹Department of Medicine and Rheumatology and Global Center of Excellence Program, Tokyo Medical and Dental University, Tokyo, Japan, ¹⁰Juntendo University School of Medicine, Tokyo, Japan, ¹¹Dept of Pharmacovigilance, Tokyo Medical and Dental University, Tokyo, Japan
Background/Purpose: In antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), geographic difference in the type of vasculitis is well known. While granulomatosis with polyangiitis (GPA) is the…