Abstracts tagged "GWAS"

Abstract Number: 163 • 2013 ACR/ARHP Annual Meeting
The Frequency Of Single Nucleotide Polymorphisms In Urate Transporter Genes and Their Association With Uric Acid Concentration Based On Data From Genome-Wide Association Studies In The Korean Population
Chan-Nam Son¹, So-Young Bang², Sang-Cheol Bae³ and Jae-Bum Jun³, ¹Internal Medicine, Keimyung University Dongsan Medical Center, Daegu, South Korea, ²Department of Rheumatology, Hanyang University Guri Hospital, Guri, South Korea, ³Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, South Korea
Background/Purpose: Gouty arthritis is characterized by hyperuricemia, which results from overproduction of, or impaired renal excretion of, uric acid. Recently, interest has increased in renal…
Abstract Number: 176 • 2013 ACR/ARHP Annual Meeting
Identification Of Major Histocompatibility Complex Class II Alleles Associated With Systemic Sclerosis Through Imputation Strategy
Jose Ezequiel Martin¹, Carmen P. Simeón², Norberto Ortego-Centeno³, Patricia Carreira⁴, Miguel A. Gonzalez-Gay^5,6, Nicolas Hunzelmann⁷, Shervin Assassi⁸, Filemon K. Tan⁸, Frank C. Arnett⁸, Xiaodong Zhou⁸, T.R.D.J. Radstake^9,10, Maureen D. Mayes¹¹, Paul de Bakker^12,13, Javier Martin^1,14 and B. P. C. Koeleman¹³, ¹Immunology, Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Armilla (Granada), Spain, ²Department of Internal Medicine, Hospital Valle de Hebron, Barcelona, Spain, ³Systemic Autoimmune Diseases Unit, Hospital Clínico San Cecilio, Granada, Spain, ⁴Hospital Universitario 12 de Octubre, Department of Rheumatology, Madrid, Spain, ⁵Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, Rheumatology Division, IFIMAV, Santander, Spain, ⁶Rheumatology, Hospital Universitario Marqués de Valdecilla. IFIMAV, Santander, Spain, ⁷Department of Dermatology, University of Cologne, Cologne, Germany, ⁸Rheumatology, University of Texas Health Science Center at Houston, Houston, TX, ⁹Laboratory for Translational Immunology, UMC Utrecht, Utrecht, Netherlands, ¹⁰Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Utrecht, Netherlands, ¹¹University of Texas Health Science Center at Houston, Houston, TX, ¹²Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, ¹³Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands, ¹⁴Instituto de Parasitologia y Biomedicina Lopez-Neyra (IPBLN-CSIC), Granada, Spain
Background/Purpose: Different alleles of MHC class II molecules have been associated either with risk to systemic sclerosis (SSc) or its subphenotypes. Due to the high…
Abstract Number: 2861 • 2013 ACR/ARHP Annual Meeting
Accounting For Parental Load and Identification Of Multiple Risk Variants For Anti-Ro Congenital Heart Block Through High-Density Genotyping Of Immune-Related Loci
Robert M. Clancy¹, Jill P. Buyon², Nathalie Costedoat-Chalumeau³, Antonio Brucato⁴, Kateri Levesque⁵, Véronique Ramoni⁶, Miranda C. Marion⁷, Mary Comeau⁸, Satria Sajuthi⁹, Paula S. Ramos¹⁰, Robert P. Kimberly¹¹, Timothy D. Howard¹² and Carl D. Langefeld¹³, ¹Medicine, New York University School of Medicine, New York, NY, ²Medicine, Division of Rheumatology, New York University School of Medicine, New York, NY, ³Internal Medicine, Hopital Cochin, Paris, France, ⁴Internal Medicine, USC Internal Medicine, Ospedali Riuniti, Bergamo, Italy, ⁵Medicine Interne, Hopital Cochin, Paris, France, ⁶Rheumatology, Rheumatology University of Pavia, Pavia, Italy, ⁷Department of Biostatistical Sciences, Wake Forest University Health Sciences, Winston-Salem, NC, ⁸Wake Forest University Health Sciences, Winston-Salem, NC, ⁹Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ¹⁰Department of Medicine, Medical University of South Carolina, Charleston, SC, ¹¹Clinical Immun & Rheumatology, University of Alabama at Birmingham, Birmingham, AL, ¹²Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC, ¹³Center for Public Health Genomics and Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC
Background/Purpose: Anti-Ro associated congenital heart block (CHB) exhibits a 33% concordance rate in monozygotic twins, 17.5% recurrence of disease and a high sibling risk ratio…
Abstract Number: 2770 • 2013 ACR/ARHP Annual Meeting
Complex Functional Effects Within The HLA Contribute To Sjögren’s Syndrome Pathogenesis and May Influence Both Transcriptional Regulation and Peptide Binding
Christopher J. Lessard^1,2, He Li¹, Indra Adrianto¹, John A. Ice¹, Mikhail G. Dozmorov³, Roland Jonsson⁴, Maureen Rischmueller⁵, Gunnel Nordmark⁶, Xavier Mariette⁷, Corinne Miceli-Richard⁸, Marie Wahren-Herlenius⁹, Torsten Witte¹⁰, Michael T. Brennan¹¹, Roald Omdal¹², Lars Rönnblom¹³, Patrick M. Gaffney¹, Wan-Fai Ng¹⁴, Nelson L. Rhodus¹⁵, Barbara M. Segal¹⁶, Jonathan D. Wren¹, R. Hal Scofield^1,17,18, Juan-Manuel Anaya¹⁹, John B. Harley^20,21, Courtney G. Montgomery¹ and Kathy L. Sivils^1,2, ¹Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, ³Arthritis and Clincial Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁴Broegelmann Research Laboratory, Department of Clinical Science, University of Bergen, Bergen, Norway, ⁵Rheumatology Department, Queen Elizabeth Hospital, Adelaide, Australia, ⁶Rheumatology, Department of Medical Sciences, Uppsala University, Uppsala, Sweden, ⁷Paris-Sud University, Paris, France, ⁸Rheumatology, Université Paris Sud, Le Kremlin Bicêtre, France, ⁹Department of Medicine, Karolinska Institutet, Stockholm, Sweden, ¹⁰Clinical Immunology and Rheumatology, Medical University Hannover, Hanover, Germany, ¹¹Nidcr NIH, Carolinas Medical Center, Charlotte, NC, ¹²Clinical Immunology Unit, Department of Internal Medicine, Stavanger University Hospital, Stavanger, Norway, ¹³Department of Medical Science, Uppsala University, Uppsala, Sweden, ¹⁴Musculoskeletal Research Group, Institute of Cellular Medicine, Newcastle upon Tyne, United Kingdom, ¹⁵University of Minnesota, Minneapolis, MN, ¹⁶Rheumatology, Hennepin County Medical Center, Minneapolis, MN, ¹⁷Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK, ¹⁸US Department of Veterans Affairs Medical Center, Oklahoma City, OK, ¹⁹School of Medicine and Health Sciences, Universidad del Rosario. Center for Autoimmune Diseases Research (CREA), Bogotá, Colombia, ²⁰Division of Rheumatology and The Center for Autoimmune Genomics & Etiology, University of Cincinnati, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ²¹US Department of Veterans Affairs Medical Center, Cincinnati, OH
Background/Purpose: Primary Sjögren’s syndrome (pSS) is a common, heterogeneous exocrinopathy. Etiology involves complex environmental, genetic and genomic influences driving innate and adaptive autoimmune responses. This…
Abstract Number: 1632 • 2013 ACR/ARHP Annual Meeting
Identification Of a Novel Systemic Lupus Erythematosus Risk Locus Between FCHSD2 and P2RY2 In Koreans
Christopher J. Lessard^1,2, Satria Sajuthi³, So-Young Bang⁴, Hye-Soon Lee⁵, Young Mo Kang⁶, Chang-Hee Suh⁷, Won Tae Chung⁸, Soo-Kon Lee⁹, Jung-Yoon Choe¹⁰, Seung-Cheol Shim¹¹, Shin-Seok Lee¹², Ji Hee Oh¹³, Young Jin Kim¹⁴, Jong-Young Lee¹⁴, Bok-Ghee Han¹⁴, Patrick M. Gaffney¹⁵, Timothy J. Vyse for SLEGEN¹⁶, John B. Harley^17,18, Carl D. Langefeld³, Sang-Cheol Bae¹⁹, Kathy L. Sivils^1,2 and Betty P. Tsao²⁰, ¹Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, ³Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ⁴Hanyang University Guri Hospital, Guri, South Korea, ⁵Department of Rheumatology, Hanyang University Guri Hospital, Guri, South Korea, ⁶Department of Internal Medicine (Rheumatology), Kyungpook National University School of Medicine, Daegu, South Korea, ⁷Department of Rheumatology, Ajou University Hospital, Suwon, South Korea, ⁸Division of Rheumatology, Department of Internal Medicine, Dong-A University Hospital, Busan, South Korea, ⁹Department of Internal Medicine, Yonsei University College of Medicine, Seoul, South Korea, ¹⁰Catholic University of Daegu School of Medicine, Daegu, South Korea, ¹¹Division of Rheumatology, Daejeon Rheumatoid & Degenerative Arthritis Center, Chungnam National University Hospital, Daejeon, South Korea, ¹²Rheumatology, Chonnam National University Medical School and Hospital, Gwangju, South Korea, ¹³Division of Structural and Functional Genomics, Center for Genome Science, Korea National Institute of Health, Osong, South Korea, ¹⁴Korea National Institute of Health, Osong, South Korea, ¹⁵Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹⁶King's College London, Guy's Hospital, London, United Kingdom, ¹⁷Division of Rheumatology and The Center for Autoimmune Genomics & Etiology, University of Cincinnati, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ¹⁸US Department of Veterans Affairs Medical Center, Cincinnati, OH, ¹⁹Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, South Korea, ²⁰Division of Rheumatology, Department of Medicine, David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA
Background/Purpose: Systemic lupus erythematosus (SLE) is a chronic, heterogeneous autoimmune disorder characterized by inflammation, loss of tolerance to self-antigens, and dysregulated interferon responses. Although >40…
Abstract Number: 808 • 2013 ACR/ARHP Annual Meeting
A Genome Wide Association Study Of Rheumatoid Arthritis Without Antibodies Against Citrullinated Peptides
Lara Bossini-Castillo¹, Carolien de Kovel², Henrik Kallberg³, Marieke J.H. Coenen⁴, Paul P. Tak⁵, Marcel D. Posthumus⁶, Cisca Wijmenga⁷, Thomas W.J. Huizinga⁸, Annette H.M. van der Helm-van Mil⁹, Luis Rodriguez-Rodriguez¹⁰, Isidoro Gonzalez-Alvaro¹¹, Miguel Angel Gonzalez-Gay¹², Irene E. van der Horst-Bruinsma¹³, B.a.C Dijkmans¹⁴, G. J. Wolbink¹⁵, Roel A. Ophoff², Piet L.C.M. van Riel¹⁶, Lars Klareskog³, J.B.a. Crusius¹⁷, Elisabeth Brouwer¹⁸, Javier Martin¹⁹, Niek de Vries⁵, René E.M. Toes⁹, Leonid Padyukov²⁰ and Bobby P.C. Koeleman²¹, ¹Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Granada, Spain, ²Department of Medical Genetics, UMCU Utrecht, Utrecht, Netherlands, ³Rheumatology Unit, Department of Medicine, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden, ⁴Human Genetics (855), Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ⁵Division of Clinical Immunology and Rheumatology and Department of Experimental Immunology, Division of Clinical Immunology and Rheumatology and Department of Experimental Immunology, Academic Medical Center / University of Amsterdam, Amsterdam, Netherlands, ⁶Department of Rheumatology, University of Groningen, University Medical Center, Groningen, Netherlands, ⁷Department of Genetics, University Medical Hospital Groningen, University of Groningen, Groningen, Netherlands, ⁸Department of Rheumatology, Leiden University Medical Center, Leiden, Netherlands, ⁹Rheumatology, Leiden University Medical Center, Leiden, Netherlands, ¹⁰Hospital Clínico San Carlos, Department of Rheumatology, Madrid, Spain, ¹¹Servicio de Reumatología, Hospital Universitario de La Princesa, Madrid, Spain, ¹²Rheumatology, Hospital Universitario Marqués de Valdecilla. IFIMAV. Santander, Santander, Spain, ¹³Department of Rheumatology, VU University Medical Center, Amsterdam, Netherlands, ¹⁴Rheumatology, VU University Medical Center, Amsterdam, Netherlands, ¹⁵Rheumatology, Jan van Breemen Research Institute | Reade, Amsterdam, Netherlands, ¹⁶Rheumatology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ¹⁷Pathology, VU University Medical Center, Amsterdam, Netherlands, ¹⁸Rheumatology and Clinical Immunology, University of Groningen, University Medical Center Groningen, Groningen, Netherlands, ¹⁹Immunology, Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Armilla (Granada), Spain, ²⁰Rheumatology Unit, Karolinska University Hospital, Solna, Karolinska Institutet, Stockholm, Sweden, ²¹Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands
Background/Purpose: Rheumatoid arthritis (RA) is a common autoimmune disease that is associated with a progressive loss of the joints induced by a chronic inflammation of…

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