ACR Meeting Abstracts

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Abstracts tagged "genetics and systemic sclerosis"

  • Abstract Number: 2996 • 2015 ACR/ARHP Annual Meeting

    Evaluation of Systemic Sclerosis Risk Genes in the Turkish Population

    Javier Martín1, Francisco David Carmona2, Tamara Fernández-Aranguren1, Alberto Serrano-Fernández3, Ahmet Mesut Onat4, Gema Robledo5, Enrique Raya6, Haner Direskeneli7, Amr H. Sawalha8 and Sule Yavuz9, 1Instituto de Parasitología y Biomedicina López- Neyra, IPBLN-CSIC, PTS-Granada, Granada, Spain, 2Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, PTS-Granada, Granada, Spain, 3Immunology, Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Armilla, Spain, 4İnternal Medicine Division of Rheumatology, Gaziantep University, Faculty of Medicine, Gaziantep, Turkey, 5Immunology, Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Granada, Spain, 6Rheumatology, Hospital Clínico San Cecilio, Granada, Spain, 7Department of Rheumatology, Marmara University Faculty of Medicine, Istanbul, Turkey, 8Division of Rheumatology, University of Michigan, Ann Arbor, MI, 9Rheumatology, Istanbul Bilim University, Faculty of Medicine,Department of Rheumatology, Istanbul, Turkey

    Background/Purpose: The use of high-throughput genotyping platforms has allowed a better understanding of the genetic background underlying systemic sclerosis (SSc). Sixteen non-HLA genes have been…
  • Abstract Number: 1716 • 2014 ACR/ARHP Annual Meeting

    MHC Class I and Class II Genes Influence Systemic Sclerosis Susceptibility, Clinical Presentation and Autoantibody Profile in a Mexican Admixed Population

    Tatiana Sofia Rodriguez-Reyna1, Joaquin Zuniga2, Julio Granados3, Pamela Mercado Velazquez4, Carlos Nunez Alvarez4, Neng Yu5, Sharon Alosco6, Alfredo Cruz Lagunas7 and Edmond Yunis8, 1Immunology and Rheumatology, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, Mexico, 2Immunology, Instituo Nacional de Enfermedades Respiratorias Ismael Cosio Villegas, Mexico, Mexico, 3Transplantation, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubira, Mexico, Mexico, 4Immunology and Rheumatology, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico, Mexico, 5HLA laboratory, the American Red Cross Northeast division, American Red Cross Blood Services - Northeast Division, Dedham, MA, 6HLA Laboratory, American Red Cross Blood Services - Northeast Division, Dedham, MA, 7Immunology, Instituto Nacional de Enfermedades Respiratorias, Mexico, Mexico, 8Department of Cancer Immunology and AIDS, Dana Farber Cancer Institue, Boston, MA

    Background/Purpose: Systemic Sclerosis (SSc) exhibits great clinical and serologic variability in different populations. Herein we determined MHC class I and II alleles and extended haplotypes…
  • Abstract Number: 753 • 2014 ACR/ARHP Annual Meeting

    Identification of IL12RB1 As a Novel Systemic Sclerosis Susceptibility Locus

    Elena Lopez-Isac1, Lara Bossini-Castillo2,3, Sandra G Guerra4, Shervin Assassi5, Xiaodong Zhou5, Carmen P. Simeón6, Norberto Ortego-Centeno7, Ivan Castellvi8, Patricia Carreira9, Olga Gorlova10, Lorenzo Beretta11, Alessandro Santaniello12, Claudio Lunardi13, Roger Hesselstrand14, Annika Nordin15, Gabriela Riemekasten16, Torsten Witte17, Nicolas Hunzelmann18, Alexander Kreuter19, Jörg HW Distler20, Alexandre E. Voskuyl21, Jeska K. De Vries-Bouwstra22, Bobby P.C. Koeleman23, Ariane Herrick24, Jane Worthington25, Christopher Denton4, Carmen Fonseca4, T.R.D.J. Radstake26, Maureen D. Mayes27 and Javier Martin2, 1Institute of Parasitology and Biomedicine López-Neyra, IPBLN-CSIC, Granada, Spain, 2Immunology, Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Armilla (Granada), Spain, 3Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC,, Consejo Superior de Investigaciones Científicas (CSIC), Armilla (Granada), Spain, 4Centre for Rheumatology, Royal Free and University College Medical School, London, United Kingdom, 5Rheumatology, University of Texas Health Science Center at Houston, Houston, TX, 6Department of Internal Medicine, Hospital Valle de Hebron, Barcelona, Spain, 7Medicine Department, Hospital Universitario San Cecilio, Granada, Spain, 8Hosp. De Sta. Creu i S. Pau, Vilafranca del Pened, Spain, 9Rheumatology, Hospital Universitario 12 de Octubre, Madrid, Spain, 10Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX, 11Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy, 12Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy, 13Department of Medicine, Università degli Studi di Verona, Verona, Italy, 14Rheumatology, Lund University, Lund, Sweden, 15Rheumatology Unit, Department of Medicine, Karolinska University Hospital, Karolinska Institute, Stockholm, Sweden, 16Charité University Hospital and German Rheumatism Research Centre, a Leibniz Institute, Berlin, Germany, 17Clinic for Immunology and Rheumatology, Hannover Medical School, Hannover, Germany, 18Department of Dermatology, University of Cologne, Cologne, Germany, 19Department of Dermatology, Venereology, and Allergologie, HELIOS St. Elisabeth Hospital, Oberhausen, Germany, 20Department of Internal Medicine, Institute for Clinical Immunology, University of Erlangen-Nuremberg, Erlangen, Germany, 21Department of Rheumatology, VU University Medical Center, Amsterdam, Netherlands, 22Rheumatology, Leiden University Medical Center, Leiden, Netherlands, 23Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands, 24Centre for Musculoskeletal Research, The University of Manchester, Manchester, United Kingdom, 25The University of Manchester, Manchester, United Kingdom, 26Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Utrecht, Netherlands, 27University of Texas Health Science Center at Houston, Houston, TX

    Background/Purpose A recent large-scale fine mapping study -Immunochip- in systemic sclerosis (SSc) identified 3 novel genome-wide significant hits as well as a wide number of…
  • Abstract Number: 155 • 2013 ACR/ARHP Annual Meeting

    Exome Sequencing For Identification Of Potential Causal Variants For Diffuse Cutaneous Systemic Sclerosis

    Angel CY Mak1, M Kari Connolly2, Tamiko Katsumoto3,4, Paul Wolters5, Clare Cleveland3,4, Blanca M Herrera1, Paul LF Tang1, Simi Mathauda1, Richard Lao1, Pui-Yan Kwok1,2 and Lindsey A. Criswell3,4, 1University of California, San Francisco, Institute for Human Genetics, San Francisco, CA, 2University of California, San Francisco, Department of Dermatology, San Francisco, CA, 3University of California, San Francisco, Rosalind Russell Medical Research Center for Arthritis, San Francisco, CA, 4University of California, San Francisco, Department of Medicine, San Francisco, CA, 5University of California, San Francisco, Department of Medicine, Pulmonary Division, San Francisco, CA

    Background/Purpose: Scleroderma is a genetically complex autoimmune disease with substantial phenotypic heterogeneity. Previous genome-wide association studies (GWAS) have identified a large number of gene regions…
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