Abstracts tagged "genetics"

Abstract Number: 1132 • ACR Convergence 2022
Interaction of LOC100507053, ADH1B, and ADH1C with Alcohol Consumption for Elevated Serum Urate Levels and Gout in People of European Ethnicity
Min Hui Chuah¹, Ruth Topless², Gregory Gamble¹, Nicholas Sumpter³, Lisa Stamp⁴, Tony Merriman² and Nicola Dalbeth¹, ¹University of Auckland, Auckland, New Zealand, ²University of Otago, Dunedin, New Zealand, ³University of Alabama at Birmingham, Birmingham, AL, ⁴University of Otago, Christchurch, New Zealand
Background/Purpose: Alcohol consumption is a risk factor for hyperuricaemia and gout. Multiple single nucleotide polymorphisms (SNPs) have been identified as associated with both habitual alcohol…
Abstract Number: 1627 • ACR Convergence 2022
BAFF-var Is a New Predisposing Factor for Primary Sjögren’s Syndrome (pSS) and Impacts Disease Activity
Marie Dulin¹, Maxime Beydon², Bineta Ly³, Veronique Le Guern⁴, Raphaèle Seror⁵, Xavier Mariette⁶ and Gaetane Nocturne⁷, ¹Kremlin Bicêtre Hospital - APHP, Paris, France, ²Université Paris Cité, Paris, France, ³INSERM UMR1184, Le Kremlin Bicêtre, France, ⁴Hôpital Cochin, Paris, France, ⁵University Hospital Paris-Saclay, Le Kremlin Bicêtre, France, ⁶Paris-Saclay University, Rueil Malmaison, Ile-de-France, France, ⁷APHP, Le Kremlin Bicêtre, France
Background/Purpose: Chronic B cell activation plays a key role in pSS pathogeny. BAFF (B-cell activating factor) is largely involved in this process and positive results…
Abstract Number: 0564 • ACR Convergence 2022
Identifying Shared Genetic Architecture Between RA and Other Conditions: A Phenome-Wide Association Study
Harrison Zhang¹, Gregory McDermott², Thany Seyok², Sicong Huang², Kumar Dahal², Sehi L'Yi¹, Clara Lea-Bonzel¹, Jacklyn Stratton², Dana Weisenfeld², Tianrun Cai², Paul Monach³, Jing Cui², Chuan Hong⁴, Tianxi Cai⁵ and Katherine Liao², ¹Harvard Medical School, Boston, MA, ²Brigham and Women's Hospital, Boston, MA, ³VA Boston Healthcare System, Boston, MA, ⁴Duke University, Durham, NC, ⁵Harvard TH Chan School of Public Health, Boston, MA
Background/Purpose: RA shares individual risk alleles with other autoimmune conditions such as type 1 diabetes and celiac disease. However, there are limited studies examining the…
Abstract Number: 1134 • ACR Convergence 2022
Genome-wide Association Study Identifies Novel Loci for Leukopenia Among TPMT and NUDT15 Normal Metabolizers Taking Azathioprine
Jacy Zanussi, Puran Nepal, Alyson Dickson, Laura Daniel, Peter Straub, Tyne Miller-Fleming, Wei-Qi Wei, Adriana Hung, Nancy Cox, Vivian Kawai, Jonathan Mosley, Michael Stein, QiPing Feng, Ge Liu, Ran Tao and Cecilia Chung, Vanderbilt University Medical Center, Nashville, TN
Background/Purpose: Azathioprine is a thiopurine drug used for the treatment of several inflammatory and autoimmune conditions. However, its use is limited due to side effects,…
Abstract Number: 1633 • ACR Convergence 2022
Genetic Risk, Adherence to a Healthy Lifestyle, and Incident Gout in US Women and Men
Kehuan Lin¹, Natalie McCormick¹, Leo Lu², amit johi³, Chio Yokose⁴ and Hyon Choi⁵, ¹Massachusetts General Hospital, Boston, MA, ²Arthritis Research Canada, Vancouver, BC, Canada, ³Regeneron, Boston, MA, ⁴Massachusetts General Hospital, Waltham, MA, ⁵MASSACHUSETTS GENERAL HOSPITAL, Lexington, MA
Background/Purpose: Lifestyle and genetic factors have been independently related to incident gout risk. However, it remains unknown whether the genetic risk of gout is affected…
Abstract Number: 0567 • ACR Convergence 2022
Gain-of-Function Mutations in Lyn Kinase Cause a Novel Autoinflammatory Disease with Small Vessel Vasculitis and Liver Fibrosis
Adriana Almeida de Jesus¹, Guibin Chen², Dan Yang², Tomas Brdicka³, Natasha Ruth⁴, David Bennin⁵, Dita Cebecauerova⁶, Hana Malcova⁷, Helen Freeman⁸, Neil Martin⁹, Karel Svojgr⁶, Murray Passo⁴, Farzana Bhuyan¹⁰, Sara Alehashemi¹¹, Andre Rastegar¹², Kat Uss¹², Lela Kardova¹², Iris Duric³, Ebun Omoyinmi¹³, Petra Peldova⁶, Chyi-Chia Richard Lee¹⁴, David Kleiner¹⁴, Colleen Hadigan¹⁵, Stephen Hewitt¹⁴, Stefania Pittaluga¹⁴, Carmelo Carmona-Rivera¹⁶, Katherine R. Calvo¹⁵, Nirali Shah¹⁴, Miroslava Balascakova⁶, Danielle Fink¹⁷, Radana Kotalova⁶, Zuzana Parackova⁶, Lucie Peterkova⁶, Daniela Kuzilkova⁶, Vit Campr⁶, Lucie Sramkova⁶, Stephen Brooks¹⁶, Eric Meffre¹⁸, Rebecca Harper², Hyesun Kuehn¹⁵, Mariana Kaplan¹⁶, Paul Brogan¹⁹, Sergio Rosenzweig¹⁵, Zuoming Deng¹⁶, Anna Huttenlocher⁵, Susan Moir¹², Douglas Kuhns¹⁷, Manfred Boehm², Karolina Skvarova Kramarzova²⁰ and Raphaela Goldbach-Mansky²¹, ¹NIAID, NIH, Silver Spring, MD, ²National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, ³Laboratory of Leukocyte Signaling, Institute of Molecular Genetics of the Academy of Sciences of Czech Republic (ASCR), Prague, Czech Republic, ⁴Medical University of South Carolina, Charleston, SC, ⁵Departments of Pediatrics and Medical Microbiology and Immunology, University of Wisconsin-Madison, Madison, WI, ⁶Second Faculty of Medicine, Charles University/University Hospital Motol, Prague, Czech Republic, ⁷Second Faculty of Medicine, Charles University/University Hospital Motol, Praha, Czech Republic, ⁸Raigmore Hospital, Inverness, Scotland, United Kingdom, ⁹Royal Hospital for Children, Glasgow, Scotland, United Kingdom, ¹⁰National Institutes of Health, Bethesda, MD, ¹¹NIH/NIAID/TADS, Clarksville, MD, ¹²National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ¹³Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom, ¹⁴National Cancer Institute, National Institutes of Health, Bethesda, MD, ¹⁵Clinical Center, National Institutes of Health, Bethesda, MD, ¹⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ¹⁷National Institute of Allergy and Infectious Diseases, National Institutes of Health, Frederick, MD, ¹⁸Yale University, New Haven, CT, ¹⁹UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, ²⁰Second Faculty of Medicine, Charles University/University Hospital Motol, Prague, ²¹NIH/NIAID, Potomac, MD
Background/Purpose: Lyn kinase is a member of the Src family of tyrosine kinases that regulates innate and adaptive immune responses. Lyn C-terminal tail tyrosine residue,…
Abstract Number: 1137 • ACR Convergence 2022
MHC Class I Polypeptide-Related Sequence a Variant Predicts Real-World Response to Anti-TNF Therapy
Kristin Wipfler¹, Joshua Baker² and Kaleb Michaud³, ¹FORWARD, The National Databank for Rheumatic Diseases, Omaha, NE, ²University of Pennsylvania, Philadelphia, PA, ³University of Nebraska Medical Center, Omaha, NE
Background/Purpose: MHC class I polypeptide-related sequence A (MICA) is a protein involved in the activation of NK and T cells. Variants within the MICA gene…
Abstract Number: 1645 • ACR Convergence 2022
Evaluating the Use of Genetic Risk Scores as Part of an Integrated Risk Tool for Predicting Coronary Artery Disease in Patients with Rheumatoid Arthritis
Mehreen Soomro¹, Michael Stadler¹, Sebastien Viatte¹, Alex Macgregor², Suzanne Verstappen¹, Anne Barton¹ and John Bowes¹, ¹The University of Manchester, Manchester, United Kingdom, ²The University of East Anglia, Norwich, United Kingdom
Background/Purpose: Patients with rheumatoid arthritis (RA) have a higher prevalence of coronary artery disease (CAD) than the general population, which contributes to early mortality. However,…
Abstract Number: 0594 • ACR Convergence 2022
Identification of Peptidylglycine Alpha-Amidating Monooxygenase as a Regulator of Tissue Damage Mediated by Rheumatoid Arthritis Synovial Fibroblasts
Kevin Sheridan¹, Emma Dorris¹, Christopher Buckley² and Anthony Wilson¹, ¹University College Dublin, Dublin, Ireland, ²University of Oxford, Oxford, United Kingdom
Background/Purpose: The minor C allele variant of rs26232 SNP, located within the first intron of the Macrophage Immunometabolism regulator (MACIR) gene, is associated with both…
Abstract Number: 1139 • ACR Convergence 2022
Molecular Pathways Identified from Risk Alleles Identify Mechanistic Differences in Systemic Lupus Erythematosus Patients of East Asian and European Ancestry
Katherine Owen¹, Kristy Bell², Andrew Price³, Prathyusha Bachali⁴, Hannah Ainsworth⁵, Miranda Marion⁶, Timothy Howard⁵, Carl Langefeld⁷, Nan Shen⁸, Jinoos Yazdany⁹, Maria Dall'Era¹⁰, Amrie Grammer¹¹ and Peter Lipsky³, ¹RILITE, Crozet, VA, ²AMPEL BioSolutions LLC, Charlottesville, VA, ³AMPEL BioSolutions, Charlottesville, VA, ⁴AMPEL BioSolutions, Redmond, WA, ⁵Wake Forest School of Medicine, Winston-Salem, NC, ⁶Wake Forest University, Winston-Salem, NC, ⁷Wake Forest School of Medicine, Winston Salem, NC, ⁸Shanghai Jiang Tong University School of Medicine, Shanghai, China, ⁹UCSF, San Francisco, CA, ¹⁰University of California, Division of Rheumatology, San Francisco, CA, ¹¹AMPEL LLC, Charlottesville, VA
Background/Purpose: SLE is a multi-organ autoimmune disorder with a prominent genetic component. Individuals of Asian-Ancestry (AsA) disproportionately experience more severe SLE compared to individuals of…
Abstract Number: 1657 • ACR Convergence 2022
Extreme Phenotype Approach Identifies Rare Variants in Systemic Sclerosis and Dermatomyositis Patients with Severe Calcinosis
Srijana Davuluri¹, Urvashi Kaundal², Christian Lood³, Puneet Kapoor¹, Yumeko Kawano⁴, Stefania Dell'Orso⁵, Zuoming Deng⁶, Zsuzsanna McMahan⁷, Ami Shah⁷, Laura Hummers⁸, Daniel Kastner⁹, Fredrick Wigley¹⁰, David Fiorentino¹¹, Pravitt Gourh¹² and Lorinda Chung¹¹, ¹Stanford University School of Medicine, Palo Alto, CA, ²National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ³Division of Rheumatology, University of Washington, Seattle, WA, ⁴Brigham and Women's Hospital, Boston, MA, ⁵NIH, Bethesda, MD, ⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁷Johns Hopkins Rheumatology, Baltimore, MD, ⁸Johns Hopkins Univerisity, Baltimore, MD, ⁹National Human Genome Research Institute, Bethesda, MD, ¹⁰Johns Hopkins University, Baltimore, MD, ¹¹Stanford University, Stanford, CA, ¹²National Institutes of Health, Bethesda, MD
Background/Purpose: Calcinosis, deposition of insoluble calcium salts in skin and subcutaneous tissues, affects up to 40% of systemic sclerosis (SSc) patients, and up to 20%…
Abstract Number: 0524 • ACR Convergence 2021
Development of Biomarker Models to Identify HLA-related Microbiome Associations in Anti-Ro+ Mothers of Children with Neonatal Lupus
Robert Clancy¹, Miranda Marion², Hannah Ainsworth², Marci Beel³, Miao Chang¹, Carla Guthridge³, Joel Guthridge³, Timothy Howard⁴, Peter Izmirly⁵, Joseph Kheir³, Mala Masson¹, Miles Smith³, Judith James³, Jill Buyon⁶ and Carl Langefeld⁷, ¹NYU Grossman School of Medicine, New York, NY, ²Wake Forest University, Winston-Salem, NC, ³Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁴Wake Forest University, Quakertown, NC, ⁵New York University School of Medicine, New York, NY, ⁶NYU School of Medicine, New York, NY, ⁷Wake Forest University, Winston Salem, NC
Background/Purpose: Anti-Ro autoantibody production often precedes the development of Systemic Lupus Erythematosus (SLE) or Sjogren’s syndrome (SS) by years. For anti-Ro+ mothers enrolled in the…
Abstract Number: 1214 • ACR Convergence 2021
Examining the Relationship Between Shared Epitope, ACPA Seropositivity, and Real-World Drug Effectiveness in Patients with Rheumatoid Arthritis
Kristin Wipfler¹, Joshua Baker², Harlan Sayles³, Xue Han⁴, Sang Hee Park⁴, Keith Wittstock⁴, Ted Mikuls³ and Kaleb Michaud³, ¹FORWARD, The National Databank for Rheumatic Diseases, Omaha, NE, ²University of Pennsylvania, Philadelphia, PA, ³University of Nebraska Medical Center, Omaha, NE, ⁴Bristol Myers Squibb, Princeton, NJ
Background/Purpose: The shared epitope (SE) is an amino acid sequence motif coded by several HLA-DRB1 alleles that are overrepresented among people with rheumatoid arthritis (RA).…
Abstract Number: 0525 • ACR Convergence 2021
STEAP3, FZD2 and EGFLAM Are Novel Genetic Risk Loci for Granulomatosis with Polyangitis: A Genome Wide Association Study from UK Biobank
Mehmet Hocaoglu¹, Jamal Mikdashi², Yi-Ju Chen², James Perry² and Charles Hong², ¹University of Maryland Medical Center, Midtown Campus, Baltimore, MD, ²University of Maryland School of Medicine, Baltimore, MD
Background/Purpose: Granulomatosis with Polyangitis (GPA) is a systemic ANCA associated small vessel vasculitis. Prior genetic studies demonstrated a strong association of HLA Class II region…
Abstract Number: 1457 • ACR Convergence 2021
Clinical Heterogeneity of the VEXAS Syndrome: A Case Series
Matthew Koster¹, Taxiarchis Kourelis¹, Kaaren Reichard¹, Tanaz Kermani², David Beck³, Daniela Ospina Cardona⁴, Matthew Samec¹, Abhishek Mangaonkar¹, Kebede Begna¹, Christopher Hook¹, Jennifer Oliveira¹, Samih Nasr¹, Benedict Tiong⁵, Mrinal Patnaik¹, Michelle Burke¹, Clement Michet¹ and Kenneth Warrington⁶, ¹Mayo Clinic, Rochester, MN, ²University of California Los Angeles, West Hills, CA, ³National Institutes of Health, Bethesda, MD, ⁴National Institutes of Health, Germantown, MD, ⁵University of California Los Angeles Medical Center, Culver City, CA, ⁶Mayo Clinic, Rochester, Minnesota
Background/Purpose: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently described myeloid-driven autoinflammatory condition caused by somatic mutations affecting methionine-41 (p.Met41) in the…

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Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. 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 a scientific presentation or presentation of additional new information that will be available at the time of the meeting) is under embargo until Saturday, November 11, 2023.

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