Abstracts tagged "polymorphism"

Abstract Number: 1961 • 2018 ACR/ARHP Annual Meeting
Association of GTF2I Region Polymorphism with Systemic Lupus Erythematosus and Systemic Sclerosis, but Not with ANCA-Associated Vasculitis and Polymyositis/Dermatomyositis, in a Japanese Population
Nozomi Yokoyama^1,2, Aya Kawasaki^1,2, Takashi Matsushita³, Hiroshi Furukawa^1,2,4, Yuya Kondo⁵, Fumio Hirano^6,7, Ken-ei Sada⁸, Isao Matsumoto⁵, Makio Kusaoi⁹, Hirofumi Amano⁹, Shohei Nagaoka¹⁰, Keigo Setoguchi¹¹, Tatsuo Nagai¹², Kota Shimada^4,13, Shouji Sugii¹⁴, Atsushi Hashimoto¹⁵, Toshihiro Matsui¹⁶, Akira Okamoto¹⁷, Noriyuki Chiba¹⁸, Eiichi Suematsu¹⁹, Shigeru Ohno²⁰, Masao Katayama²¹, Kiyoshi Migita²², Hajime Kono²³, Minoru Hasegawa²⁴, Shigeto Kobayashi²⁵, Hidehiro Yamada²⁶, Kenji Nagasaka²⁷, Takahiko Sugihara²⁸, Kunihiro Yamagata²⁹, Shoichi Ozaki²⁶, Manabu Fujimoto³⁰, Naoto Tamura⁹, Yoshinari Takasaki⁹, Hiroshi Hashimoto³¹, Hirofumi Makino³², Yoshihiro Arimura³³, Masayoshi Harigai³⁴, Shinichi Sato³⁵, Takayuki Sumida⁵, Shigeto Tohma^36,37, Kazuhiko Takehara³ and Naoyuki Tsuchiya^1,2, ¹University of Tsukuba, Graduate School of Comprehensive Human Sciences, Masters' Program in Medical Sciences, Tsukuba, Japan, ²University of Tsukuba, Faculty of Medicine, Molecular and Genetic Epidemiology Laboratory, Tsukuba, Japan, ³Kanazawa University, Department of Dermatology, Kanazawa, Japan, ⁴National Hospital Organization Sagamihara l Hospital, Clinical Research Center for Allergy and Rheumatology, Sagamihara, Japan, ⁵Department of Internal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁶Tokyo Medical and Dental University, Graduate School of Medical and Dental Sciences, Department of Rheumatology, Tokyo, Japan, ⁷Tokyo Medical and Dental UniversityGraduate School of Medical and Dental Sciences, Department of Lifetime Clinical Immunology, Tokyo, Japan, ⁸Okayama University, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences,Department of Nephrology, Rheumatology, Endocrinology and Metabolism, Okayama, Japan, ⁹Juntendo University, School of Medicine, Department of Internal Medicine and Rheumatology, Tokyo, Japan, ¹⁰Department of Rheumatology, Yokohama Minami Kyosai Hospital, Yokohama, Japan, ¹¹Allergy and Immunological Diseases, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan, ¹²Kitasato University, Department of Rheumatology and Infectious Diseases, Sagamihara, Japan, ¹³Department of Rheumatology, Tokyo Metropolitan Tama Medical Center, Fuchu, Japan, ¹⁴Department of Rheumatology, Tokyo Metropolitan Tama Medical Center, Tokyo, Japan, ¹⁵Rheumatology, National Hospital Organization Sagamihara Hospital, Sagamihara, Japan, ¹⁶National Hospital Organization Sagamihara l Hospital, Clinical Research Center for Allergy and Rheumatology, Kanagawa, Japan, ¹⁷Department of Rheumatology, Himeji Medical Center, National Hospital Organization, Himeji, Japan, ¹⁸Department of Rheumatology, Morioka Hospital, National Hospital Organization, Morioka, Japan, ¹⁹Clinical Research Institute, Department of Internal Medicine and Rheumatology, Kyushu Medical Center, National Hospital Organization, Fukuoka, Japan, ²⁰Center for Rheumatic Disease, Yokohama City University Medical Center, Yokohama, Japan, ²¹Department of Internal Medicine, Nagoya Medical Center, National Hospital Organization, Nagoya, Japan, ²²Fukushima Medical University, School of Medicine, Fukushima, Japan, ²³Department of Internal Medicine, Teikyo University School of Medicine, Tokyo, Japan, ²⁴University of Fukui, Department of Dermatology, Fukui, Japan, ²⁵Department of Internal Medicine, Juntendo University Koshigaya Hospital, Koshigaya, Japan, ²⁶St. Marianna University, School of Medicine, Department of Internal Medicine, Kawasaki, Japan, ²⁷Department of Rheumatology, Ome Municipal General Hospital, Ome, Japan, ²⁸Department of Medicine and Rheumatology, Tokyo Metropolitan Geriatric Hospital, Tokyo, Japan, ²⁹University of Tsukuba, Faculty of Medicine, Department of Nephrology, Tsukuba, Japan, ³⁰University of Tsukuba, Faculty of Medicine, Department of Dermatology, Tsukuba, Japan, ³¹Juntendo University School of Medicine, Tokyo, Japan, ³²Okayama University Hospital, Okayama, Japan, ³³Kyorin University School of Medicine, First Department of Internal Medicine, Tokyo, Japan, ³⁴Tokyo Women's Medical University, Division of Epidemiology and Pharmacoepidemiology of Rheumatic Diseases, Institute of Rheumatology, Tokyo, Japan, ³⁵The University of Tokyo, Department of Dermatology, Tokyo, Japan, ³⁶National Hospital Organization Tokyo National Hospital, Kiyose, Japan, ³⁷National Hospital Organization Tokyo Hospital, Sagamihara, Japan
Background/Purpose: Genome-wide association studies of systemic lupus erythematosus (SLE) in Chinese and Korean populations identified striking association with a single nucleotide polymorphism (SNP) rs73366469, located…
Abstract Number: 165 • 2017 ACR/ARHP Annual Meeting
Rheumatoid Arthritis Risk Polymorphisms in CCR6, SNP and Estrogen-Dependent Response to Immune Mediator Gene Expression, and NF-κb Transcriptional Activity: Crosstalk between the Immune and Endocrine Systems
Ming-Fen Ho¹, Tim Bongartz², James N. Ingle³, Liewei Wang¹ and Richard M. Weinshilboum¹, ¹Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, ²Emergency Medicine, Vanderbilt University, Nashville, TN, ³Department of Medical Oncology, Mayo Clinic, Rochester, MN
Background/Purpose: The rheumatoid arthritis (RA) risk locus CCR6 rs3093024 SNP is associated with increased risk of RA in a sex-specific pattern in Asian populations. Specifically,…
Abstract Number: 1411 • 2017 ACR/ARHP Annual Meeting
Protein Tyrosine Phosphatase Non-Receptor 22 / C-Src Tyrosine Kinase Complex Down-Regulated in Patients with Rheumatoid Arthritis
Sara Remuzgo-Martínez¹, Fernanda Genre¹, Raquel López-Mejías¹, Santos Castañeda², Alfonso Corrales¹, Pablo Moreno Fresneda^2,3, Begoña Ubilla¹, Verónica Mijares¹, Virginia Portilla¹, Jesús González-Vela¹, Trinitario Pina¹, J. Gonzalo Ocejo-Vinyals⁴, Juan Irure-Ventura⁴, Ricardo Blanco¹, Javier Martin⁵, Javier Llorca⁶ and Miguel Angel González-Gay⁷, ¹Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, IDIVAL, Santander, Spain, ²Rheumatology Division, Hospital Universitario La Princesa, IIS-IP, Madrid, Spain, ³Rheumatology, Rheumatology Division, Hospital Universitario La Princesa, IIS-IP, Madrid, Spain, ⁴Immunology Division, Hospital Universitario Marqués de Valdecilla, Santander, Spain, ⁵Instituto de Parasitología y Biomedicina ‘López-Neyra’, CSIC, PTS Granada, Granada, Spain, ⁶Department of Epidemiology and Computational Biology, School of Medicine, University of Cantabria, and CIBER Epidemiología y Salud Pública (CIBERESP), IDIVAL, Santander, Spain, ⁷Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, IDIVAL and School of Medicine, University of Cantabria, Santander, Spain
Background/Purpose: Protein tyrosine phosphatase non-receptor 22 (PTPN22) binds to C-Src tyrosine kinase (CSK) forming a key regulator complex in autoimmunity1. In this regard, PTPN22 is…
Abstract Number: 2651 • 2017 ACR/ARHP Annual Meeting
Association of ITGAM Polymorphism rs1143679 with Susceptibility to Systemic Lupus Erythematosus in North Indian Population
Sandeep Kumar¹, Vikas Gupta¹, Avadhesh Pratap², Rajeev Singh³, Reena Kumari³, Amita Aggarwal¹ and Ramnath Misra¹, ¹Clinical Immunology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India, ²Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India, ³Biochemistry, King George Medical University, Lucknow, India
Background/Purpose: ITGAM (Integrin-α-M, also known as CD11b) gene located at chromosome 16p11.2, encodes for the α-chain of Integrin-αMβ2, a leucocyte specific integrin receptor, also known…
Abstract Number: 1212 • 2016 ACR/ARHP Annual Meeting
A Combined Large Scale Meta-Analysis Identifies COG6 As a Novel Shared Risk Locus for Rheumatoid Arthritis and Systemic Lupus Erythematosus
Ana Márquez¹, Laura Vidal-Bralo², Luis Rodriguez-Rodriguez³, Miguel Angel González-Gay⁴, Alejandro Balsa⁵, Isidoro Gonzalez-Alvaro⁶, Patricia Carreira⁷, Norberto Ortego Centeno⁸, Maria del Mar Ayala Gutierrez⁹, Francisco José García-Hernández¹⁰, Francisca González Escribano¹¹, José Mario Sabio¹², Carles Tolosa¹³, Ana Suárez¹⁴, Antonio Gonzalez¹⁵, Leonid Padyukov¹⁶, Jane Worthington¹⁷, Timothy J. Vyse^18,19, Marta E. Alarcon Riquelme^20,21 and Javier Martín¹, ¹Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, PTS-Granada, Granada, Spain, ²Instituto Investigacion Sanitaria-Hospital Clinico Universitario de Santiago, Santiago de Compostela, Spain, ³Rheumatology Department and Heath Research Institute (IdISSC), Hospital Clinico San Carlos, Madrid, Spain, ⁴Rheumatology, Hospital Universitario Marqués de Valdecilla, IDIVAL, University of Cantabria, Santander, Spain, ⁵Department of Rheumatology and Institute for Health Research (IdiPAZ), University Hospital La Paz, Madrid, Spain, ⁶Rheumatology, Rheumatology Service, Hospital Universitario de La Princesa, IIS-IP, Madrid, Spain, ⁷Department of Rheumatology, Hospital Universitario 12 de Octubre, Madrid, Spain, ⁸Systemic Autoimmune Diseases Unit, Hospital Clínico San Cecilio, Granada, Spain, ⁹Department of Internal Medicine, Hospital Carlos Haya, Málaga, Spain, ¹⁰Department of Internal Medicine, Hospital Universitario Virgen del Rocío, Sevilla, Spain, ¹¹Department of Immunology, Hospital Universitario Virgen del Rocío (IBiS, CSIC, US), Sevilla, Spain, ¹²Department of Internal Medicine, Hospital Virgen de las Nieves, Granada, Spain, ¹³Department of Internal Medicine, Hospital Parc Taulí, Sabadell, Spain, ¹⁴Department of Functional Biology, Immunology Area, Faculty of Medicine, University of Oviedo, Oviedo, Spain, ¹⁵Laboratorio de Investigación 10 and Rheumatology Unit, Instituto de Investigación Sanitaria - Hospital Clinico Universitario de Santiago, Santiago de Compostela, Spain, ¹⁶Department of Medicine, Rheumatology Unit, Karolinska Institutet, Stockholm, Sweden, ¹⁷Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Institute of Inflammation and Repair, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, ¹⁸Department of Medical and Molecular Genetics, King's College London, London, United Kingdom, ¹⁹Division of Immunology, Infection and Inflammatory Disease, King’s College London, London, United Kingdom, ²⁰Centro de Genómica e Investigación Oncológica (GENYO), Pfizer-Universidad de Granada-Junta de Andalucía, Granada, Spain, ²¹Institute for Environmental Medicine, Karolinska Institutet, Stockholm, Sweden
Background/Purpose: One of the main limitations of the association studies in autoimmunity is the difficulty in identifying genetic risk variants with modest effects, given the…
Abstract Number: 60 • 2016 ACR/ARHP Annual Meeting
A Single Nucleotide Polymorphism of IL6-Receptor Is Associated with Response to Tocilizumab in Rheumatoid Arthritis: Results from Toci and ROC Studies
Cécile Luxembourger¹, Adeline Ruyssen-Witrand², Yannick Degboé³, Alain G. Cantagrel¹, Arnaud CONSTANTIN⁴, Philippe Gaudin⁵, Christian Jorgensen⁶, Jean-Francis Maillefert⁷, Hubert Marotte Sr.⁸, Delphine Nigon⁹, Daniel Wendling¹⁰, Jacques-Eric Gottenberg¹¹ and Yves-marie Pers¹², ¹Rheumatology, Centre Hospitalier Universitaire, Toulouse Purpan, Toulouse, France, ²Rheumatology Center, Purpan University Hospital, Toulouse, France, ³Rheumatology, Rheumatology Center, Purpan University Hospital, Toulouse, France, ⁴Rheumatology, CHU Purpan - Hôpital Pierre-Paul Riquet, Toulouse, France, ⁵Rheumatology, Grenoble University Hospital, France, Grenoble, France, ⁶Inserm u844, Unite ImmunoRhumatologie Therapeutique, Montpellier, France, ⁷Rheumatology, University Hospital, Dijon, France, ⁸CHU de St Etienne, Service de rhumatologie, St Etienne, France, ⁹CHU Purpan, Toulouse, France, ¹⁰Rheumatology, Besançon university hospital, Besançon, France, ¹¹Department of Rheumatology, Strasbourg University Hospital, Strasbourg, France, ¹²coordination RIC SUD, Montpellier, France
Background/Purpose: Biological agents (boDMARDs) have modified the therapeutic management of patients with rheumatoid arthritis (RA). However, boDMARDs can induce sustained remission in only 30% of…
Abstract Number: 87 • 2015 ACR/ARHP Annual Meeting
Rheumatoid Arthritis (RA) Risk Gene CCR6 Polymorphism: Drug-Induced “Reversal” of ER Binding and the Expression of Inflammatory Mediators -Potential Molecular Mechanism Links Between Estrogen and RA
Ming-Fen Ho¹, Richard M. Weinshilboum², Liewei Wang², James N. Ingle³ and Tim Bongartz⁴, ¹Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic Rochester, Rochester, MN, ²Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, ³Department of Medical Oncology, Mayo Clinic, Rochester, MN, ⁴Rheumatology, Mayo Clinic, Rochester, MN
Background/Purpose: The rheumatoid arthritis (RA) risk locus CCR6 SNP rs3093024, is in tight linkage disequilibrium with rs3093023 which has been associated with RA risk. RA…
Abstract Number: 1140 • 2014 ACR/ARHP Annual Meeting
Association of Polymorphisms on OPG, RANK and RANKL with ACPA Presence and Erosions: Results of a Meta-Analysis on 1570 Rheumatoid Arthritis Patients from 3 French Cohorts
Adeline Ruyssen Witrand^1,2,3, Sara Scaramuzzino^1,2, Delphine Nigon⁴, Cédric Lukas⁵, Yannick Allanore⁶, Olivier Vittecoq⁷, Thierry Schaeverbeke⁸, Jacques Morel⁹, Jean Sibilia¹⁰, Anne Cambon-Thomsen^1,2, Alain G. Cantagrel¹¹, Philippe Dieude^12,13 and Arnaud Constantin⁴, ¹UMR 1027, Inserm, Toulouse, France, ²UMR 1027, University Paul Sabatier, Toulouse, France, ³Rheumatolgy, CHU Purpan - Hôpital Pierre-Paul Riquet, Toulouse, France, ⁴Rheumatology, CHU Purpan - Hôpital Pierre-Paul Riquet, Toulouse, France, ⁵Immuno-Rhumatologie, Hopital Lapeyronie, Montpellier, France, ⁶Department of Rheumatology, University Paris Descartes and Cochin Hospital, Paris, France, ⁷Rheumatology, Department of Rheumatology, Rouen University Hospital & Inserm 905, Institute for Biomedical Research, University of Rouen, Rouen, France, ⁸Rheumatology, Bordeaux University Hospital, Bordeaux, France, ⁹Department of Rheumatology, Hôpital Lapeyronie, Montpellier, France, ¹⁰Division of Rheumatology, University Hospital of Strasbourg, Strasbourg, France, ¹¹Centre Hospitalier Universitaire de Toulouse, Toulouse, France, ¹²Rheumatology, Rheumatology departement & INSERM U699, Paris Diderot university, APHP, Bichat hospital, Paris, France, ¹³Rhumatologie, Hopital Bichat Claude Bernard, Paris, France
Background/Purpose Rheumatoid Arthritis (RA) is a multifactorial complex disease characterized by the presence of anti-citrullinated peptides antibodies (ACPA) and joints erosions. The mechanisms of bone…
Abstract Number: 74 • 2014 ACR/ARHP Annual Meeting
Influence of the Polymorphism IL1ß (-511 A/C) and IL6 (- 174 G/C) on the Activity, Radiographic Damage and Clinical Forms of Patients with Psoriatic Arthritis (PSA)
Tatiana Carranco¹, Noelia Cubino², Clara Cieza-Borrela³, Ismael Calero³, Maria Dolores Sanchez³, C. Hidalgo-Calleja⁴, Alba Quesada³, Andres Plata³, Agustin Diaz Alvarez³, Ricardo Usategui⁵, Rogelio Gonzalez⁵, C.a. Montilla-Morales⁴ and J. Del Pino-Montes⁴, ¹Reumathology, HOSPITAL CLINICO UNIVERSITARIO DE SALAMANCA, SALAMANCA, Spain, ²INTERNAL MEDICINE, HOSPITAL CLINICO UNIVERSITARIO DE SALAMANCA, SALAMANCA, Spain, ³HOSPITAL CLINICO UNIVERSITARIO DE SALAMANCA, SALAMANCA, Spain, ⁴University of Salamanca Hospital, Salamanca, Spain, ⁵IBSAL, SALAMANCA, Spain
Background/Purpose: PSA is a chronic inflammatory disease associated to psoriasis which affects the joints, vertebrae and enthesis. Interleukin-1 is an inflammatory cytokine. A higher expression…
Abstract Number: 2456 • 2014 ACR/ARHP Annual Meeting
Associations of Toll-like Receptor (TLR)-4 Single Nucleotide Polymorphisms and Rheumatoid Arthritis Disease Progression
Marshall Davis¹, Tricia LeVan², Fang Yu³, Harlan Sayles⁴, Jeremy Sokolove⁵, William H. Robinson⁶, Kaleb Michaud⁷, Geoffrey M Thiele⁸ and Ted R. Mikuls⁴, ¹Internal Medicine, University of Nebraska Medical Center, Omaha, NE, ²Univ of Nebraska Med Ctr, Omaha, NE, ³University of Nebraska Medical Center, Omaha, NE, ⁴Omaha VA Medical Center and University of Nebraska Medical Center, Omaha, NE, ⁵VA Palo Alto Healthcare System and Stanford University, Palo Alto, CA, ⁶VA Palo Alto Health Care System and Stanford University, Palo Alto, CA, ⁷National Data Bank for Rheumatic Diseases, Wichita, KS, ⁸Omaha VA and the University of Nebraska Medical Center, Omaha, NE
Background/Purpose: Toll-like receptor (TLR)-4 signaling pathways have been implicated in both the innate and adaptive immune responses that characterize rheumatoid arthritis (RA). In this study,…
Abstract Number: 2088 • 2014 ACR/ARHP Annual Meeting
Association of TNFAIP3 Gene Polymorphisms with the Risk for RA and Prediction of Therapy Outcome of TNFα-Blocker Treatment
Susanne Drynda¹, Marietta Gloetzner² and Joern Kekow¹, ¹Clinic of Rheumatology, Univ of Magdeburg, Clinic of Rheumatology, Vogelsang-Gommern, Germany, ²Univ of Magdeburg, Clinic of Rheumatology, Vogelsang-Gommern, Germany
Background/Purpose: The TNFα inducible protein 3 (TNFAIP3=A20) is an important regulatory protein for the inhibition of NFkB activation in TNFaR and TLR pathways. It belongs…
Abstract Number: 174 • 2013 ACR/ARHP Annual Meeting
Genetic Association On Disease Severity In Rheumatoid Arthritis: A Validation Study In Japanese Patients
Shinji Yoshida¹, Katsunori Ikari¹, Koichiro Yano¹, Yoshiaki Toyama², Atsuo Taniguchi³, Hisashi Yamanaka¹ and Shigeki Momohara³, ¹Institute of Rheumatology, Tokyo Women's Medical University, Tokyo, Japan, ²Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan, ³Institute of Rheumatology, Tokyo Women’s Medical University, Tokyo, Japan
Background/Purpose: The disease severity of rheumatoid arthritis (RA) is objectively measured by radiographic joint destruction, which is reflective of the cumulative burden of inflammation. Recently,…
Abstract Number: 1702 • 2013 ACR/ARHP Annual Meeting
Identification of Multiple Genetic Susceptibility Loci in Takayasu’s Arteritis
Guher Saruhan-Direskeneli¹, Travis Hughes², Patrick S. Coit², Joel M. Guthridge³, Judith A. James⁴, Peter A. Merkel of behalf of the Vasculitis Clinical Research Consortium⁵, Haner Direskeneli on behalf of the Turkish Takayasu Study Group⁶ and Amr H. Sawalha², ¹Department of Physiology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, ²Division of Rheumatology, University of Michigan, Ann Arbor, MI, ³Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁴Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁵Division of Rheumatology, University of Pennsylvania, Philadelphia, PA, ⁶Department of Rheumatology, Marmara University, Faculty of Medicine, Istanbul, Turkey
Background/Purpose: Takayasu’s arteritis is a rare inflammatory disease of large arteries. The etiology of Takayasu’s arteritis remains poorly understood, but genetic contribution to the disease…
Abstract Number: 2303 • 2012 ACR/ARHP Annual Meeting
Confirmation of TNIP1 As a Susceptibility Locus for Systemic Sclerosis in a Large Multicentre Study
Lara Bossini-Castillo¹, Jose Ezequiel Martin², Carmen Pilar Simeon³, Lorenzo Beretta⁴, Olga Y. Gorlova⁵, Madelon C. Vonk⁶, Patricia Carreira⁷, the Spanish Scleroderma Group⁸, Annemie Schuerwegh⁹, Alexandre Voskuyl¹⁰, Anna-Maria Hoffmann-Vold¹¹, Roger Hesselstrand¹², Annika Nordin¹³, Claudio Lunardi¹⁴, Jaap Van Laar¹⁵, Paul Shiels¹⁶, Ariane Herrick¹⁷, Jane Worthington¹⁸, Carmen Fonseca¹⁹, Christopher P. Denton¹⁹, Shervin Assassi²⁰, Bobby P.C. Koeleman²¹, Maureen D. Mayes²², T.R.D.J. Radstake²³ and Javier Martin¹, ¹Immunology, Instituto de Parasitologia y Biomedicina Lopez-Neyra (IPBLN-CSIC), Granada, Spain, ²Immunology, Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Armilla (Granada), Spain, ³Servicio de Medicina Interna, Hospital Valle de Hebron, Barcelona, Spain, ⁴Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy, ⁵Department of Epidemiology, UT M. D. Anderson Cancer Center, Houston, TX, ⁶Department of Rheumatology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ⁷Rheumatology, Hospital Universitario 12 de Octubre, Madrid, Spain, ⁸Granada, Spain, ⁹Leids Univ Medisch Centrum, Leiden, Netherlands, ¹⁰Department of Rheumatology, VU University Medical Center, Amsterdam, Netherlands, ¹¹Rheumatology, Oslo University Hospital, Oslo, Norway, ¹²Rheumatology, Lund University, Lund, Sweden, ¹³Department of Rheumatology, Karolinska Institute, Stockholm, Sweden, ¹⁴Department of Medicine, Università degli Studi di Verona, Verona, Italy, ¹⁵Rheumatology, Leiden University Hospital, Leiden, Netherlands, ¹⁶University of Glasgow, Glasgow, United Kingdom, ¹⁷Musculoskeletal Research Group, University of Manchester, Salford, United Kingdom, ¹⁸Arthritis Research UK Epidemiology Unit, Arthritis Research UK Epidemiology Unit, The University of Manchester, Manchester, United Kingdom, ¹⁹Centre for Rheumatology, Royal Free and University College Medical School, London, United Kingdom, ²⁰Internal Medicine/Rheumatology, University of Texas Health Science Center at Houston, Houston, TX, ²¹Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands, ²²Rheumatology, University of Texas Health Science Center at Houston, Houston, TX, ²³Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Utrecht, Netherlands
Background/Purpose: Systemic sclerosis or scleroderma (SSc) is a complex autoimmune disorder that affects the connective tissue causing fibrosis in the skin and different internal organs.…
Abstract Number: 2304 • 2012 ACR/ARHP Annual Meeting
Differential Association of IRAK1 and MECP2 with Specific Systemic Sclerosis Phenotypes
F. David Carmona¹, M.C. Cénit¹, L.M. Díaz-Gallo¹, Carmen P. Simeón², Patricia Carreira³, the Spanish Scleroderma Group⁴, Nicolas Hunzelmann⁵, Gabriela Riemekasten⁶, Torsten Witte⁷, Alexander Kreuter⁸, Jörg HW Distler⁹, Paul Shiels¹⁰, Jacob M. van Laar¹¹, Annemie Schuerwegh¹², Madelon C. Vonk¹³, Alexandre Voskuyl¹⁴, Carmen Fonseca¹⁵, Christopher Denton¹⁶, Ariane Herrick¹⁷, Frank C. Arnett¹⁸, Filemon K. Tan¹⁸, Shervin Assassi¹⁸, T.R.D.J. Radstake¹⁹, Maureen D. Mayes¹⁸ and Javier Martin¹, ¹Instituto de Parasitología y Biomedicina López-Neyra, Consejo Superior de Investigaciones Científicas, Armilla (Granada), Spain, ²Department of Internal Medicine, Hospital Valle de Hebron, Barcelona, Spain, ³Rheumatology, Hospital Universitario 12 de Octubre, Madrid, Spain, ⁴Granada, Spain, ⁵Department of Dermatology, University of Cologne, Cologne, Germany, ⁶Charité University Hospital and German Rheumatism Research Centre, a Leibniz Institute, Berlin, Germany, ⁷Clinical Immunology and Rheumatology, Medical University Hannover, Hanover, Germany, ⁸Department of Dermatology, Venereology, and Allergologie, HELIOS St. Elisabeth Hospital, Oberhausen, Germany, ⁹Department of Internal Medicine, Institute for Clinical Immunology, University of Erlangen-Nuremberg, Erlangen, Germany, ¹⁰University of Glasgow, Glasgow, United Kingdom, ¹¹Newcastle University, Musculoskeletal Research Group, Newcastle, United Kingdom, ¹²Leids Univ Medisch Centrum, Leiden, Netherlands, ¹³Department of Rheumatology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ¹⁴Department of Rheumatology, VU University Medical Center, Amsterdam, Netherlands, ¹⁵Department of Rheumatology, Royal Free Hospital, London, United Kingdom, ¹⁶Department of Rheumatology, Royal Free and University College Medical School, London, United Kingdom, ¹⁷Musculoskeletal Research Group, University of Manchester, Salford, United Kingdom, ¹⁸Rheumatology, University of Texas Health Science Center at Houston, Houston, TX, ¹⁹Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Utrecht, Netherlands
Background/Purpose: Systemic sclerosis (SSc) is a fibrotic autoimmune disease that represents a clear example of a sex biased immune disorder. The X-chromosome gene IRAK1 has…

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