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, ⁴Ä°nternal 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-Castillo^2,3, 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 Katsumoto^3,4, Paul Wolters⁵, Clare Cleveland^3,4, Blanca M Herrera¹, Paul LF Tang¹, Simi Mathauda¹, Richard Lao¹, Pui-Yan Kwok^1,2 and Lindsey A. Criswell^3,4, 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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