Abstracts tagged "NOTCH4 and sequencing"

Abstract Number: 1957 • 2019 ACR/ARP Annual Meeting
Aggregation of Functional Variants in NOTCH4 Gene Increases SSc Risk
Pravitt Gourh¹, Sarah Safran ², Theresa Alexander ³, Steven Boyden ⁴, Ami Shah ⁵, Maureen Mayes ⁶, Ayo Doumatey ⁷, Amy Bentley ⁷, Daniel Shriner ⁷, Robyn Domsic ⁸, Thomas Medsger Jr ⁹, Paula Ramos ¹⁰, Richard Silver ¹¹, Virginia Steen ¹², John Varga ¹³, Vivien Hsu ¹⁴, Lesley Saketkoo ¹⁵, Elena Schiopu ¹⁶, Dinesh Khanna ¹⁷, Jessica Gordon ¹⁸, Brynn Kron ¹⁹, Lindsey Criswell ²⁰, Heather Gladue ²¹, Chris Derk ²², Elana Bernstein ²³, S Louis Bridges ²⁴, Victoria Shanmugam ²⁵, Kathleen Kolstad ²⁶, Lorinda Chung ²⁷, Suzanne Kafaja ²⁸, Reem Jan ²⁹, Marcin Trojanowski ³⁰, Avram Goldberg ³¹, Benjamin Korman ³², Peter Steinbach ³³, Settara Chandrasekharappa ⁷, James Mullikin ⁷, Adebowale Adeyemo ⁷, Charles Rotimi ⁷, Frederick Wigley ³⁴, Daniel Kastner ³⁵, Francesco Boin ³⁶ and Elaine Remmers ⁷, ¹National Institutes of Rheumatology, Bethesda, ²National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), Bethesda, MD, ³University of Maryland, College Park, MD, ⁴University of Utah, SALT LAKE CITY, UT, ⁵Johns Hopkins Hospital, Baltimore, MD, ⁶Division of Rheumatology and Clinical Immunogenetics, University of Texas McGovern Medical School, Houston, Texas, USA, Houston, TX, ⁷National Human Genome Research Institute (NHGRI), Bethesda, MD, ⁸University of Pittsburgh, Pittsburgh, PA, ⁹University of Pittsburg School of Medicine, Pittsburg, PA, ¹⁰Medical University of South Carolina, Charleston, ¹¹Division of Rheumatology, Medical University of South Carolina, Charleston, SC, ¹²Georgetown University, Washington, D.C., USA, Georgetown, ¹³Northwestern University, Chicago,, IL, ¹⁴Rutgers- RWJ Medical School, SOUTH PLAINFIELD, NJ, ¹⁵New Orleans Scleroderma and Sarcoidosis Patient Care and Research Center, New Orleans; Tulane University School of Medicine, University Medical Center – Comprehensive Pulmonary Hypertension Center, USA, New Orleans, ¹⁶Department of Rheumatology, University of Michigan, Ann Arbor, ¹⁷Department of Medicine, University of Michigan, Ann Arbor, Michigan, USA, Ann Arbor, ¹⁸Hospital for Special Surgery, New York, NY, ¹⁹University of California San Francisco, San Francisco, CA, ²⁰University of California, San Francisco, San Francisco, ²¹Arthritis & Osteoporosis Consultants Of The Carolinas, Charlotte, NC, ²²University of Pennsylvania, Philadelphia, PA, ²³Division of Rheumatology, Columbia University, New York, NY, ²⁴University of Alabama at Birmingham, Birmingham, ²⁵George Washington University, Georgetown, DC, ²⁶Division of Immunology and Rheumatology, Department of Medicine, Stanford University, Stanford, CA, ²⁷Stanford University, Palo Alto, CA, ²⁸Department of Medicine. Rheumatology Division. UCLA, Los Angeles, CA, ²⁹University of Chicago Pritzker School of Medicine, Chicago, IL, ³⁰Boston University Medical Center, Boston, MA, ³¹New York University Langone Medical Center, New York, NY, ³²University of Rochester Medical Center, Rochester, NY, ³³Center for Molecular Modeling, Center for Information Technology, National Institutes of Health, Bethesda, MD, ³⁴Johns Hopkins University, Division of Rheumatology, Baltimore, ³⁵National Institutes of Health, Bethesda, MD, ³⁶UCSF, San Francisco, CA
Background/Purpose: Genetic studies of common variants in scleroderma (systemic sclerosis, SSc) have identified several susceptibility loci increasing SSc risk. Most of these common variants are…

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