Abstracts tagged "Genetic Biomarkers and systemic sclerosis"

Abstract Number: 1864 • 2016 ACR/ARHP Annual Meeting
No Evidence of Association of ATP8B4 F436L missense Variant in a Large Systemic Sclerosis Cohort
Elena Lopez-Isac¹, Lara Bossini-Castillo², Ana B Palma², Shervin Assassi³, Carmen Pilar Simeón⁴, Norberto Ortego Centeno⁵, Esther Vicente-Rabaneda⁶, Carlos Tolosa⁷, Manuel Rubio-Rivas⁸, Jose Andres Roman Ivorra⁹, Lorenzo Beretta¹⁰, Gianluca Moroncini¹¹, Nicolas Hunzelmann¹², Joerg HW Distler¹³, Gabriela Riekemasten¹⁴, Jeska K. de Vries-Bouwstra¹⁵, Alexandre E. Voskuyl¹⁶, Timothy R.D.J. Radstake¹⁷, Ariane L. Herrick¹⁸, Christopher Denton¹⁹, Carmen Fonseca²⁰, Maureen D Mayes³ and Javier Martín¹, ¹Institute of Parasitology and Biomedicine López-Neyra, IPBLN-CSIC, Granada, Spain, ²Cellular Biology and Immunology, Institute of Parasitology and Biomedicine López-Neyra (CSIC), Granada, Spain, ³Department of Internal Medicine - Rheumatology, University of Texas-McGovern Medical School, Houston, TX, ⁴Internal Medicine, Hospital Universitari Vall d'Hebron, Barcelona, Spain, ⁵Internal Medicine, Hospital Clínico San Cecilio, Granada, Spain, ⁶Rheumatology, H.U. La Princesa, Madrid, Spain, ⁷Department of Internal Medicine, Corporación Sanitaria Universitaria Parc Taulí, Barcelona, Spain, ⁸Department of Internal Medicine, Hospital Universitario de Bellvitge, Barcelona, Spain, ⁹Department of Rheumatology, Hospital Universitario y Politecnico La Fe, Valencia, Spain, ¹⁰Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy, ¹¹Dipartimento di Scienze mediche e Chirurgiche, Università politecnica delle Marche and Ospedali Riuniti, Ancona, Italy, ¹²Department of Dermatology, University of Cologne, Cologne, Germany, ¹³Internal Medicine 3, University of Erlangen, Erlangen, Germany, ¹⁴Department of Rheumatology, University of Lübeck, Luebeck, Germany, ¹⁵Department of Rheumatology, Leiden University Medical Center, Leiden, Netherlands, ¹⁶Department of Rheumatology, VU University medical center, Amsterdam, Netherlands, ¹⁷Laboratory of Translational Immunology, UMC Utrecht, Utrecht, Netherlands, ¹⁸Centre for Musculoskeletal Research, University of Manchester, MAHSC, Salford Royal Hospital, Manchester, United Kingdom, ¹⁹Division of Medicine, Centre for Rheumatology and Connective Tissue Disease, University College London, London, United Kingdom, ²⁰Centre for Rheumatology, Royal Free and University College Medical School, London, United Kingdom
Background/Purpose: Systemic sclerosis (SSc) is a complex autoimmune disease with heterogeneous clinical manifestations. Over the past seven years our knowledge of the SSc genetic component…

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