Abstracts tagged "genetics"

Abstract Number: 775 • 2017 ACR/ARHP Annual Meeting
Transcriptome Sequencing Reveals Genetic Polymorphisms Associated with Ssc Gene Expression Subtypes
Guoshuai Cai¹, Bhaven K. Mehta², Mengqi Huang², Jennifer Franks¹, Tammara A. Wood¹, Kathleen D. Kolstad³, Marianna Stark⁴, Antonia Valenzuela⁵, David Fiorentino⁶, Robert W. Simms⁷, Nicole Orzechowski⁸, Lorinda Chung⁹ and Michael L. Whitfield², ¹Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ²Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ³Rheumatology, Stanford University Medical Center, Stanford, CA, ⁴Stanford University, Stanford, CA, ⁵Immunology and Rheumatology, Stanford University, Palo Alto, CA, ⁶Department of Dermatology, Stanford University School of Medicine, Palo Alto, CA, ⁷Rheumatology, Boston University School of Medicine, Boston, MA, ⁸Dartmouth-Hitchcock Medical Center, Lebanon, NH, ⁹Rheumatology, Stanford University Medical Center, Palo Alto, CA
Background/Purpose: Systemic sclerosis (SSc) is a complex disease characterized by substantial genotypic and phenotypic heterogeneity. Four molecular gene expression subsets have been identified from SSc…
Abstract Number: 68 • 2017 Pediatric Rheumatology Symposium
HLA-DRB1 in Non-Hispanic African American Children with Juvenile Idiopathic Arthritis and Chronic Anterior Uveitis
Lai Hin Kimi Chan¹, Courtney McCracken¹, Kirsten Jenkins², Steven Yeh³, Purnima Patel⁴, Sampath Prahalad¹ and Sheila Angeles-Han⁵, ¹Pediatrics, Emory University School of Medicine, Atlanta, GA, ²Children's Healthcare of Atlanta, Atlanta, GA, ³Ophthalmology, Emory University School of Medicine, Atlanta, GA, ⁴Emory University School of Medicine, Atlanta, GA, ⁵Department of Pediatrics, Cincinnati Children's Hospital, Cincinnati, OH
Background/Purpose: HLA-DRB1*08, 11 and 13 are strong risk alleles for various juvenile idiopathic arthritis (JIA) subtypes. We reported that carriage of DRB1*11 and *13 increased…
Abstract Number: 2035 • 2016 ACR/ARHP Annual Meeting
Dosage Contribution of a Non-Classical HLA Gene, HLA-Doa, to the Risk of Rheumatoid Arthritis
Yukinori Okada¹, Akari Suzuki², Katsunori Ikari³, Chikashi Terao⁴, Yuta Kochi², Koichiro Ohmura⁵, Koichiro Higasa⁵, Masato Akiyama², Kyoto Ashikawa², Masahiro Kanai², Jun Hirata¹, Naomasa Suita¹, Yik-Ying Teo⁶, Huji Xu⁷, Sang-Cheol Bae⁸, Yukihide Momozawa², koichi Matsuda⁹, Shigeki Momohara¹⁰, Atsuo Taniguchi¹⁰, Ryo Yamada⁵, Tsuneyo Mimori⁵, Michiaki Kubo², Matthew A. Brown¹¹, Soumya Raychaudhuri¹², Fumihiko Matsuda⁵, Hisashi Yamanaka¹⁰, Yoichiro Kamatani² and Kazuhiko Yamamoto⁹, ¹Osaka University, Osaka, Japan, ²Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan, ³Inst of Rheumatology, Tokyo Women's Medical University, Tokyo, Japan, ⁴Departments of Genetics and Rheumatology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ⁵Kyoto University Graduate School of Medicine, Kyoto, Japan, ⁶Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, Singapore, ⁷The Second Military Medical University, Shanghai, Japan, ⁸Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea, The Republic of, ⁹The University of Tokyo, Tokyo, Japan, ¹⁰Tokyo Women's Medical University, Tokyo, Japan, ¹¹The University of Queensland Diamantina Institute, Brisbane, Australia, ¹²Brigham and Women's Hospital, Boston, MA
Background/Purpose: Despite the progress in human leukocyte antigen (HLA) causal variant mapping, independent localization of major histocompatibility complex (MHC) risk from classical HLA genes is…
Abstract Number: 2275 • 2016 ACR/ARHP Annual Meeting
Genome-Wide Association Study of Gout in New Zealand Polynesian People
Tanya Flynn¹, Ruth Topless¹, Murray Cadzow¹, Amanda Phipps-Green¹, Nick Burns¹, Nicola Dalbeth², Lisa K. Stamp³, Jennie Harre Hindmarsh⁴ and Tony R. Merriman⁵, ¹University of Otago, Dunedin, New Zealand, ²University of Auckland, Auckland, New Zealand, ³University of Otago, Christchurch, New Zealand, ⁴Ngati Porou Hauora Charitable Trust, Te Puia Springs, New Zealand, ⁵Biochemistry Dept, PO Box 56, University of Otago, Dunedin, New Zealand
Background/Purpose: The prevalence of gout in New Zealand Polynesian (Māori and Pacific) populations is approximately twice that of the New Zealand European population, with a…
Abstract Number: 2276 • 2016 ACR/ARHP Annual Meeting
Pleiotropic Effect of ABCG2 in Gout
Tony R. Merriman¹, Amanda Phipps-Green², James Boocock², Philip Riches³, Anne-Kathrin Tausche⁴, Timothy Radstake⁵, Matthijs Janssen⁶, Leo .A.B. Joosten⁷, Tim L Jansen⁸, Alexander So⁹, Jennie Harre Hindmarsh¹⁰, Lisa K. Stamp¹¹, Nicola Dalbeth¹² and Rebekah Wrigley², ¹Biochemistry Dept, PO Box 56, University of Otago, Dunedin, New Zealand, ²University of Otago, Dunedin, New Zealand, ³University of Edinburgh, Edinburgh, United Kingdom, ⁴Medizinische Klinik und Poliklinik III, Universitätsklinikum Carl Gustav Carus an der Technischen Universität Dresden, Dresden, Germany, ⁵Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, ⁶Department of Rheumatology, Rijnstate Hospital Arnhem, Arnhem, Netherlands, ⁷Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands, ⁸Rheumatology, Radboud University Medical Center, Nijmegen, Netherlands, ⁹Rheumatology Department, Lausanne University Hospital, Switzerland, Lausanne, Switzerland, ¹⁰Ngati Porou Hauora Charitable Trust, Te Puia Springs, New Zealand, ¹¹University of Otago, Christchurch, New Zealand, ¹²University of Auckland, Auckland, New Zealand
Background/Purpose: The ABCG2 Q141K (rs2231142) variant is an established cause of hyperuricaemia in Europeans. Although the effect size of ABCG2 rs2231142 on serum urate levels…
Abstract Number: 2277 • 2016 ACR/ARHP Annual Meeting
Exon Sequencing Reveals a Significant Burden of Non-Synonymous Variants in Both SLC22A11 (OAT4) and SLC22A12 (URAT1) in European Hyperuricemic Individuals
Tanya Flynn¹, James Boocock¹, Murray Cadzow¹, Ruth Topless¹, Amanda Phipps-Green¹, Nicola Dalbeth², Lisa K. Stamp³, David B. Mount⁴, Asim Mandal⁴, Hyon K. Choi⁵, Eli A. Stahl⁶ and Tony R. Merriman⁷, ¹University of Otago, Dunedin, New Zealand, ²University of Auckland, Auckland, New Zealand, ³University of Otago, Christchurch, New Zealand, ⁴Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ⁵Rheumatology, Allergy and Immunology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, ⁶Divisions of Rheumatology and Genetics, Brigham and Women's Hospital, Boston, MA, ⁷Biochemistry Dept, PO Box 56, University of Otago, Dunedin, New Zealand
Background/Purpose: Common variants within the uric acid transporter genes SLC22A11 (OAT4) and SLC22A12 (URAT1) have been associated with hyperuricaemia and gout in multiple populations, but…
Abstract Number: 2420 • 2016 ACR/ARHP Annual Meeting
Investigating Genome-Wide Inbreeding Coefficients and Age of Diagnosis in a Multi-Ethnic Population of Childhood-Onset Systemic Lupus Erythematosus (cSLE)
Chen Di Liao¹, Deanna Morra¹, Daniela Dominguez¹, Shazia Ali¹, Deborah M. Levy², Earl Silverman³, Andrew Paterson¹ and Linda T Hiraki¹, ¹The Hospital for Sick Children, Toronto, ON, Canada, ²Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ³University of Toronto, Toronto, ON, Canada
Background/Purpose: Genetics plays an important role in the pathogenesis of systemic lupus erythematosus (SLE). Up to 20% of those affected with SLE are diagnosed in…
Abstract Number: 3098 • 2016 ACR/ARHP Annual Meeting
The Occurrence of Peripheral Arthritis Mutilans in Psoriatic Arthritis Is Associated with Certain Major Histocompatibility Class I Alleles
Jon T. Giles¹, Deepak R. Jadon², Muhammad Haroon³, Jing Bi⁴, Eleanor Korendowych², William Tillett², Oliver FitzGerald⁵, Robert Winchester⁴ and Neil J. McHugh², ¹Division of Rheumatology, Columbia University, College of Physicians & Surgeons, New York, NY, ²Rheumatology, Royal National Hospital for Rheumatic Diseases, Bath, United Kingdom, ³St. Vincent's University Hospital, Department of Rheumatology, Dublin, Ireland, ⁴Rheumatology, Columbia University, College of Physicians & Surgeons, New York, NY, ⁵St. Vincent's University Hospital, Department of Rheumatology. UCD Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin, Ireland
Background/Purpose: Several human leukocyte antigen (HLA) Class I loci encoding the major histocompatibility complex (MHC) have been implicated both in psoriatic arthritis (PsA) susceptibility and…
Abstract Number: 3122 • 2016 ACR/ARHP Annual Meeting
Genome-Wide DNA Methylation Association Study of Hand Osteoarthritis
Michelle S. Yau^1,2, Roby Joehanes³, Yi-Hsiang Hsu³, Douglas P. Kiel⁴ and David T. Felson⁵, ¹Institute for Aging Research, Hebrew SeniorLife, Harvard Medical School, Boston, MA, ²Clinical Epidemiology Research and Training Unit, Boston University School of Medicine, Boston, MA, ³Hebrew SeniorLife, Harvard Medical School, Boston, MA, ⁴Institute for Aging Research, Institute for Aging Research, Hebrew Senior Life, Harvard Medical School, Boston, MA, USA, Boston, MA, ⁵Arthritis Research UK Centre for Epidemiology, Institute of Inflammation and Repair, University of Manchester, Manchester, United Kingdom
Background/Purpose: Heritability of hand osteoarthritis (OA) has been estimated to be as high as 65%. Despite having a strong genetic component, genome-wide linkage and association…
Abstract Number: 71 • 2016 ACR/ARHP Annual Meeting
A Rare Coding Allele in IFIH1 is Protective for Psoriatic Arthritis
Ashley Budu-Aggrey^1,2, John Bowes², Philip E. Stuart³, Matthew Zawistowski⁴, Lam C. Tsoi⁴, Rajan P. Nair⁵, Eleanor Korendowych⁶, Neil J McHugh⁶, James T. Elder⁵, Anne Barton^1,7,8 and Soumya Raychaudhuri⁹, ¹NIHR Manchester Musculoskeletal Biomedical Research Unit, Central Manchester Foundation Trust and University of Manchester, Manchester Academy of Health Sciences, Manchester, United Kingdom, ²Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, University of Manchester, Manchester, UK, Manchester, United Kingdom, ³Department of Dermatology, University of Michigan Medical School, Ann Arbor, MI, ⁴Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, ⁵University of Michigan Medical School, Ann Arbor, MI, ⁶Royal National Hospital for Rheumatic Diseases and Dept Pharmacy and Pharmacology, University of Bath, Bath, United Kingdom, ⁷Arthritis Research UK, Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Sciences Centre, The University of Manchester, Manchester, United Kingdom, ⁸The Kellgren Centre for Rheumatology, Central Manchester Foundation Trust, NIHR Manchester Biomedical Research Centre, Manchester, United Kingdom, ⁹Brigham and Women's Hospital, Boston, MA
Background/Purpose: Psoriatic Arthritis (PsA) is an inflammatory arthritis associated with psoriasis estimated to present in approximately 14% of psoriasis patients in the UK. As a…
Abstract Number: 3161 • 2016 ACR/ARHP Annual Meeting
The Association Between HLA Genetic Susceptibility Markers and Sonographic Enthesitis in Psoriatic Arthritis
Ari Polachek¹, Richard J. Cook², Vinod Chandran¹, Fatima Abji¹, Dafna D Gladman³ and Lihi Eder⁴, ¹Rheumatology, University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, ²Statistics and Actuarial Science, University of Waterloo, Waterloo, ON, Canada, ³University of Toronto, Toronto, ON, Canada, ⁴Rheumatology, University of Toronto, Women's College Hospital, Toronto, ON, Canada
Background/Purpose: Enthesitis is an important pathophysiologic component in psoriatic arthritis (PsA). Ultrasound is emerging as an optimal method to evaluate enthesitis. HLA genes are implicated…
Abstract Number: 57 • 2016 ACR/ARHP Annual Meeting
Genetic Polymorphism of IL-1RN Encoding the IL-1 Receptor Antagonist Predicts Radiographic Severity of Symptomatic Knee OA
Mukundan Attur¹, Sisi Ma², Jonathan Samuels³, Svetlana Krasnokutsky Samuels⁴, Hua Zhou², Jenny Bencardino⁵, Marc C. Hochberg⁶, Braxton Mitchell⁷, Virginia B. Kraus⁸, Joanne M. Jordan⁹ and Steven B. Abramson¹⁰, ¹Rheumatology Research, NYU - Hospital for Joint Diseases, New York, NY, ²Bioinformatics, New York University, New York, NY, ³Rheumatology, NYU - Hospital for Joint Diseases, New York, NY, ⁴Medicine/Rheumatology, NYU School of Medicine/NYU Hospital for Joint Diseases, New York, NY, ⁵Radiology, NYU Langone Medical Center, New York, NY, ⁶University of Maryland School of Medicine, Baltimore, MD, USA, Baltimore, MD, ⁷Departments of Medicine and Epidemiology & Public Health, University of Maryland School of Medicine, Baltimore, MD, ⁸Department of Medicine, Duke University Medical Center, Durham, NC, ⁹Thurston Arthritis Research Center, University of North CArolina at Chapel Hill, Chapel Hill, NC, ¹⁰Dept of Rheumatology/Medicine, Hosp for Joint Diseases/NYU, New York, NY
Background/Purpose: Growing numbers of studies show increased expression in Osteoarthritis (OA) of inflammatory cytokines, such as IL-1β and TNFα, in joint tissues and peripheral blood…
Abstract Number: 465 • 2016 ACR/ARHP Annual Meeting
Genetic and Metabolic Signatures of Purified Synovial Macrophage Subsets during an Acute Murine Model of Inflammatory Arthritis
Philip J. Homan¹, Harris R. Perlman² and Carla Cuda³, ¹Medicine-Rheumatology, Northwestern University, Chicago, IL, ²Department of Medicine, Division of Rheumatology, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, IL, ³Northwestern University, Chicago, IL
Background/Purpose: Rheumatoid arthritis (RA) manifests in persistent synovial inflammation, cellular infiltration and pro-inflammatory cytokine production, and results in progressive joint destruction. Macrophages have been implicated in…
Abstract Number: 3162 • 2016 ACR/ARHP Annual Meeting
Symmetric and Asymmetric Sacroiliitis Are Associated with Different Major Histocompatibility Class I Alleles in Psoriatic Arthritis
Jon T. Giles¹, Muhammad Haroon², Deepak R. Jadon³, Raj Sengupta⁴, Alison L Nightingale⁵, Eleanor Korendowych³, Jing Bi⁶, Neil J. McHugh³, Oliver FitzGerald⁷ and Robert Winchester⁶, ¹Division of Rheumatology, Columbia University, College of Physicians & Surgeons, New York, NY, ²Rheumatology, Kerry General Hospital, Co Kerry, Ireland, ³Rheumatology, Royal National Hospital for Rheumatic Diseases, Bath, United Kingdom, ⁴Rheumatology, Royal National Hospital for Rheumatic Diseases,, Bath, United Kingdom, ⁵Pharmacy and Pharmacology, University of Bath, Bath, United Kingdom, ⁶Rheumatology, Columbia University, College of Physicians & Surgeons, New York, NY, ⁷St. Vincent's University Hospital, Department of Rheumatology, Dublin, Ireland
Background/Purpose: HLA-B27 has been linked to sacroiliitis (SII) in psoriatic arthritis (PsA); however, the contribution to SII of other human leukocyte antigen (HLA) Class I…
Abstract Number: 488 • 2016 ACR/ARHP Annual Meeting
Exploring the Association Between Air Pollutant Exposure and Seropositivity in Rheumatoid Arthritis
Asha Mariam Alex^1,2, Gary A. Kunkel³, Jorge Flautero Arcos⁴, Richard Amdur⁵ and Gail S. Kerr⁶, ¹Rheumatology, Veterans Affairs Medical Center, Washington, DC, ²Rheumatology, Georgetown University Hospital, Washington, DC, ³Division of Rheumatology, George Wahlen VA Medical Center/University of Utah, Salt Lake City, UT, ⁴Rheumatology, Howard University Hospital, Washington, DC, ⁵Lead Biostatistician, Medical Faculty Associates Clinical Professor, Dept. of Surgery, George Washington University School of Medicine & Health Sciences, Washington, DC, ⁶Washington DC VAMC, Georgetown University Hospital, Howard University Hospital, Washington, DC
Background/Purpose: The etiology of rheumatoid arthritis (RA) is multi-factorial, with expression of HLA-DRB1 shared epitope (SE), smoking and socioeconomic status (SES) exerting influence. Prior studies…

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