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: 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: 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: 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: 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: 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: 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…

All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, academic institutions, private organizations, and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part of editorial news coverage) is under media embargo until 10:00 AM ET on November 14, 2024. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying colleagues, institutions, communications firms, and all other stakeholders related to the development or promotion of the abstract about this policy. If you have questions about the ACR abstract embargo policy, please contact ACR abstracts staff at [email protected].