Abstracts tagged "genetics"

Abstract Number: 2961 • 2014 ACR/ARHP Annual Meeting
Conditional Analysis of 30 Serum Urate Loci Identifies 25 Additional Independent Effects
Eli Stahl¹, Hyon K. Choi², Murray Cadzow³, Tanya Flynn³, Ruth Topless⁴ and Tony R. Merriman⁴, ¹Mt Sinai School of Medicine, New York City, NY, ²Division of Rheumatology, Allergy, and Immunology Massachusetts General Hospital, Harvard Medical School, Boston, MA, ³University of Otago, Dunedin, New Zealand, ⁴Department of Biochemistry, University of Otago, Dunedin, New Zealand
Background/Purpose: Single variants in 30 genetic loci have been associated with serum urate levels in Europeans by meta-analysis of summary statistics of 48 individual genome-wide…
Abstract Number: 765 • 2014 ACR/ARHP Annual Meeting
Gene-Gene Interaction of IRF5 and BLK Polymorphisms in US and Spanish Cohorts of Systemic Sclerosis (SSc)
Pravitt Gourh¹, Yoonhee Kim², Sandeep K. Agarwal³, Filemon K. Tan⁴, Shervin Assassi⁴, Javier Martin⁵, Frank C. Arnett⁴ and Maureen D Mayes⁴, ¹NIAMS-Rheumatology, National Institutes of Health, Bethesda, MD, ²NIH, Bethesda, MD, ³Medicine, Section of Immunology, Allergy and Rheumatology, Baylor College of Medicine, Houston, TX, ⁴Rheumatology, University of Texas Health Science Center at Houston, Houston, TX, ⁵Immunology, Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Armilla (Granada), Spain
Background/Purpose Systemic sclerosis (SSc) is a complex autoimmune disease and several genetic loci increasing SSc susceptibility have been identified with small to modest effect sizes.…
Abstract Number: 1894 • 2013 ACR/ARHP Annual Meeting
Association Of Alleles and Amino Acids Of The Major Histocompatibility Complex Class I Chain-Related Gene A With Psoriatic Disease
Remy Pollock¹, Fawnda Pellett², Renise Ayearst³, Fatima Abji¹, Dafna D. Gladman² and Vinod Chandran², ¹University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, ²Division of Rheumatology, University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, ³Rheumatology, University of Toronto, Toronto Western Hospital, Toronto, ON, Canada
Background/Purpose: We previously reported associations between alleles of the major histocompatibility complex class I chain-related gene A (MICA) and psoriatic disease that were independent of…
Abstract Number: 1899 • 2013 ACR/ARHP Annual Meeting
Interferon Regulatory Factor 5 Gene Variant rs2004640 Is Associated With Carotid Intimal Medial Thickness In Rheumatoid Arthritis Patients
Saskia Vosslamber¹, Alper M. van Sijl², Carina Bos¹, A.E. Voskuyl², Michael T. Nurmohamed² and Cornelis L. Verweij³, ¹Pathology, VU University Medical Center, Amsterdam, Netherlands, ²Rheumatology, VU University Medical Center, Amsterdam, Netherlands, ³Pathology and Rheumatology, VU University Medical Center, Amsterdam, Netherlands
Background/Purpose : Rheumatoid arthritis (RA) is a chronic inflammatory joint disease which is associated with an increased cardiovascular (CV) risk.. An important process in atherogenesis…
Abstract Number: 1707 • 2013 ACR/ARHP Annual Meeting
Biological Insights From Genetics Of Rheumatoid Arthritis Contribute To Drug Discovery
Yukinori Okada^1,2,3, Di Wu^2,4,5,6, Chikashi Terao^7,8, Katsunori Ikari⁹, Yuta Kochi¹⁰, Koichiro Ohmura¹¹, Akari Suzuki¹⁰, Hisashi Yamanaka⁹, Joshua C. Denny¹², Jeffrey D. Greenberg¹³, Robert R. Graham¹⁴, Matthew A. Brown¹⁵, Sang-Cheol Bae¹⁶, Jane Worthington¹⁷, Leonid Padyukov¹⁸, Lars Klareskog¹⁹, Peter K. Gregersen²⁰, Peter M. Visscher^21,22, Katherine A. Siminovitch^23,24 and Robert M. Plenge²⁵, ¹Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, ²Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, ³Broad Institute, Cambridge, MA, ⁴Division of Rheumatology, Immunology, and Allergy, Brigham and Women’s Hospital, Boston, MA, ⁵Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, ⁶Department of Statistics, Harvard University, Cambridge, MA, ⁷Center for Genomic Medicine, Kyoto University, Kyoto, Japan, ⁸Department of Rheumatology and Clinical immunology, Graduate School of Medicine, Kyoto University, Kyoto, Japan, ⁹Institute of Rheumatology, Tokyo Women's Medical University, Tokyo, Japan, ¹⁰Laboratory for Autoimmune Diseases, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan, ¹¹Department of Rheumatology and Clinical Immunology, Graduate School of Medicine, Kyoto University, Kyoto, Japan, ¹²Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN, ¹³Rheumatology, NYU Hospital for Joint Diseases, New York, NY, ¹⁴ITGR Human Genetics, Genentech, Inc., South San Francisco, CA, ¹⁵Human Genetics Group, The University of Queensland Diamantina Insititute, Brisbane, Australia, ¹⁶Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, South Korea, ¹⁷Arthritis Research UK Epidemiology Unit, Arthritis Research UK Epidemiology Unit, The University of Manchester, Manchester, United Kingdom, ¹⁸Rheumatology Unit, Department of Medicine, Karolinska University Hospital, Solna, Karolinska Institutet, Stockholm, Sweden, ¹⁹Rheumatology Unit, Department of Medicine, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden, ²⁰Genomics and Human Genetics, Feinstein Institute for Medical Research, Manhasset, NY, ²¹The University of Queensland Diamantina Institute, Princess Alexandra Hospital, University of Queensland, Brisbane, Australia, ²²Queensland Brain Institute, The University of Queensland, St Lucia, Brisbane, Australia, ²³Mount Sinai Hospital, Toronto, ON, Canada, ²⁴University of Toronto, Toronto, ON, Canada, ²⁵Division of Rheumatology, Immunology and Allergy and Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA
Background/Purpose: A major challenge in human genetics is to devise a systematic strategy to integrate disease-associated variants with diverse genomic and biological datasets to provide…
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: 1704 • 2013 ACR/ARHP Annual Meeting
Mapping The Shared and Distinct HLA Alleles For Seropositive and Seronegative Rheumatoid Arthritis
Buhm Han¹, Stephen Eyre², Dorothee Diogo¹, John Bowes³, Yukinori Okada¹, Leonid Padyukov⁴, Robert M. Plenge⁵, Lars Klareskog⁶, Jane Worthington⁷, Peter K. Gregersen⁸, Paul de Bakker⁹ and Soumya Raychaudhuri¹, ¹Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, ²Arthritis Research UK Epidemiology Unit, University of Manchester, Manchester, United Kingdom, ³Arthritis Research UK Epidemiology Unit, The University of Manchester, Manchester, United Kingdom, ⁴Rheumatology Unit, Karolinska University Hospital, Solna, Karolinska Institutet, Stockholm, Sweden, ⁵Division of Rheumatology, Immunology and Allergy and Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, ⁶Rheumatology Unit, Department of Medicine, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden, ⁷Arthritis Research UK Epidemiology Unit, Arthritis Research UK Epidemiology Unit, The University of Manchester, Manchester, United Kingdom, ⁸Genomics and Human Genetics, Feinstein Institute for Medical Research, Manhasset, NY, ⁹Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands
Background/Purpose: Investigators have long speculated that the two subtypes of rheumatoid arthritis (RA), anti-citrullinated protein autoantibody positive (ACPA+) and negative (ACPA-), have distinct underlying genetic…
Abstract Number: 1629 • 2013 ACR/ARHP Annual Meeting
Functional Effect Of NR1H3 (LXRA) Promoter Polymorphisms In Korean Patients With Systemic Lupus Erythematosus
Ja-Young Jeon¹, Hyoun-Ah Kim¹, Ju-Yang Jung¹ and Chang-Hee Suh², ¹Department of Rheumatology, Ajou University School of Medicine, Suwon, South Korea, ²Department of Rheumatology, Ajou University Hospital, Suwon, South Korea
Background/Purpose: Liver X receptor alpha (LXRA, NR1H3) and beta (LXRB, NR1H2) can influence macrophage biology by modulation of lipid metabolism and by effects on innate…
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: 1635 • 2013 ACR/ARHP Annual Meeting
Identification Of Novel Genetic Associations Within Major Histocompatibility Complex (MHC) Class I and Class II In Systemic Lupus Erythematosus (SLE) Patients: An Examination Of Epitopes Of Early Autoimmunity
Gerard Dumancas¹, Chee Paul Lin², Indra Adrianto¹, Jennifer A. Kelly¹, Stuart B. Glenn¹, Jourdan Anderson², John B. Harley^3,4, Timothy J. Vyse⁵, Robert P. Kimberly⁶, Marta E. Alarcon-Riquelme⁷, Carl D. Langefeld⁸, Betty P. Tsao⁹, Lindsey A. Criswell¹⁰, Chaim O. Jacob¹¹, Patrick M. Gaffney¹², Kathy Sivils¹², Judith A. James^12,13 and Courtney Montgomery², ¹Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Arthritis & Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, ³Division of Rheumatology and The Center for Autoimmune Genomics & Etiology, University of Cincinnati, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ⁴US Department of Veterans Affairs Medical Center, Cincinnati, OH, ⁵Medical & Molecular Genetics, King's College London, London, United Kingdom, ⁶Clinical Immun & Rheumatology, University of Alabama at Birmingham, Birmingham, AL, ⁷Arthritis & Clinical Immunology, Oklahoma Medical Research Foundation, Center for Genomics and Oncological Research Pfizer-University of Granada-Junta de Andalucia, Oklahoma City, OK, ⁸Center for Public Health Genomics and Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ⁹Division of Rheumatology, Department of Medicine, David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA, ¹⁰Department of Medicine, University of California, San Francisco, Rosalind Russell Medical Research Center for Arthritis, San Francisco, CA, ¹¹Division of Rheumatology, University of Southern California Keck School of Medicine, Los Angeles, CA, ¹²Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹³College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK
Background/Purpose: Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by autoantibody production, multiple organ involvement, strong genetic predisposition and specifically, to be associated with…
Abstract Number: 1480 • 2013 ACR/ARHP Annual Meeting
Prevalance Of Rare Variants In Methotrexate Pathway Genes: Implications From The National Heart Lung Blood Institute (NHLBI) Exome Sequencing Project
Fardina Malik, Internal Medicine, Alton Memorial Hospital, Alton, IL
Background/Purpose: Inter-individual variation to methotrexate (MTX) therapy in patients with rheumatoid arthritis (RA) is attributed at least in part to the presence of genetic variation…
Abstract Number: 160 • 2013 ACR/ARHP Annual Meeting
Association Analysis Of The Organic Anion Transporter 4 and Urate Transporter 1 Locus With Gout In New Zealand Case-Control Sample Sets Reveals Multiple Ancestral-Specific Effects
Tony R. Merriman¹, Amanda Phipps-Green¹, Jade E. Hollis-Moffatt², Marilyn E. Merriman¹, Ruth Topless¹, Grant Montgomery³, Brett Chapman³, Lisa K. Stamp⁴, Nicola Dalbeth⁵ and Tanya Flynn², ¹Department of Biochemistry, University of Otago, Dunedin, New Zealand, ²University of Otago, Dunedin, New Zealand, ³Queensland Institute of Medical Research, Brisbane, Australia, ⁴University of Otago, Christchurch, New Zealand, ⁵Medicine, University of Auckland, Auckland, New Zealand
Background/Purpose: There are genetic variants in urate transporters SLC22A11 (OAT4) and SLC22A12 (URAT1) that influence serum urate levels in European Caucasian. However, there is no…
Abstract Number: 1278 • 2013 ACR/ARHP Annual Meeting
The Arthritis Severity and Joint Damage Locus Cia25/Pia42 Is a New Genetic Regulator of the Invasive Properties of Synovial Fibroblasts
Max Brenner^1,2, Teresina Laragione^1,2 and Percio Gulko^1,2, ¹Center for Genomics and Human Genetics, Feinstein Institute for Medical Research, Manhasset, NY, ²Molecular Medicine, Hosftra North Shore-LIJ School of Medicine, Manhasset, NY
Background/Purpose: Rheumatoid arthritis (RA) is a chronic and commonly disabling disease with a prevalence of 1% world-wide. Disease remission is rarely achieved with current treatments…
Abstract Number: 179 • 2013 ACR/ARHP Annual Meeting
The Association Between Single Nucleotide Polymorphism ABCG2 rs2231142 and Hyperuricemia: A Case-Control Study
Bingqing Zhang¹, Weigang Fang², Yun Zhang^3,4, Shufen Liu³, Yuanjie Li³ and Xuejun Zeng², ¹Peking Union Medical College, Beijing, China, ²Medicine, Peking Union Medical College Hospital, Beijing, China, ³Peking Union Medical College Hospital, Beijing, China, ⁴Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China
Background/Purpose: The prevalence of hyperuricemia and gout in China increased markedly in the past decades. Genome-wide association studies in Caucasian population have identified multiple…
Abstract Number: 891 • 2013 ACR/ARHP Annual Meeting
A Single Amino Acid In The β1 Chain Of HLA-DR Explains The Majority Of The HLA Association With Giant Cell Arteriti
Javier Martin¹, F. David Carmona², Jose Ezequiel Martin³, Aurora Serrano¹, Lara Bossini-Castillo⁴, Roser Solans⁵, Jose A. Miranda-Filloy⁶, Santos Castañeda⁷, Maria C. Cid⁸, Jose A. Hernandez⁹, Inmaculada C. Morado¹⁰, Javier Narvaez¹¹, Ricardo Blanco¹², Bernardo Sopeña¹³, M. Jesus García-Villanueva¹⁴, Jordi Monfort¹⁵, Norberto Ortego-Centeno¹⁶, Ainhoa Unzurrunzaga¹⁷, Begoña Marí-Alfonso¹⁸, Cesar Magro¹⁹, Ana Hidalgo-Conde²⁰, Marta Conde-Jaldon²¹, María F. González-Escribano²¹, Paul de Bakker²², Bobby P.C. Koeleman²³ and Miguel A. González-Gay²⁴, ¹Instituto de Parasitologia y Biomedicina Lopez-Neyra (IPBLN-CSIC), Granada, Spain, ²Instituto de Parasitología y Biomedicina López-Neyra, Consejo Superior de Investigaciones Científicas, Armilla (Granada), Spain, ³Immunology, Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Armilla (Granada), Spain, ⁴Immunology, Instituto de Parasitologia y Biomedicina Lopez-Neyra (IPBLN-CSIC), Granada, Spain, ⁵Department of Internal Medicine, Hospital Vall d'Hebron, Barcelona, Spain, ⁶Rheumatology, Division of Rheumatology, Hospital Lucus Augusti, Lugo, Spain, ⁷Rheumatology, Hospital Universitario de La Princesa, IIS Princesa, Madrid, Spain, ⁸Vasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clínic University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain, ⁹Hospital Clinic. University of Barcelona, IDIBAPS,, Barcelona, Spain, ¹⁰Rheumatology, Hospital Clínico San Carlos, Madrid, Spain, ¹¹Rheumatology, Hospital Universitario de Bellvitge, Barcelona, Spain, ¹²Rheumatology, Hospital Universitario Marqués de Valdecilla, IFIMAV, Santander, Spain, ¹³Thrombosis and Vasculitis Unit-Internal Medicine, Complejo Hospitalario Universitario de Vigo (CHUVI), Vigo, Spain, ¹⁴Rheumatology, Hospital Ramón y Cajal, Madrid, Spain, ¹⁵Reumatologia, Hospital del Mar, Barcelona, Spain, ¹⁶Internal Medicine, Hospital Clínico San Cecilio, Granada, Spain, ¹⁷Internal Medicine, Hospital de Galdakano, Vizcaya, Spain, ¹⁸Internal Medicine, Corporació Sanitaria Parc Taulí, Instituto Universitario Parc Taulí, UAB, Sabadell, Spain, ¹⁹Rheumatology, Hospital Clínico San Cecilio, Granada, Spain, ²⁰Internal Medicine, Hospital Universitario Virgen de la Victoria, Málaga, Spain, ²¹Immunology, Hospital Universitario Virgen del Rocío, Sevilla, Spain, ²²Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands, ²³Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands, ²⁴Rheumatology, Hospital Universitario Marqués de Valdecilla. IDIVAL. Santander. Spain, Santander, Spain
Background/Purpose: Giant cell arteritis (GCA) is a polygenic inflammatory disease affecting medium- and large-sized blood vessels in people elder than 50-years old. Although it is…

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