Abstracts tagged "genetics"

Abstract Number: 0783 • ACR Convergence 2021
Transmission Disequilibrium Testing Meets Next Generation Sequencing: Applying TDT to Whole Genome Data in Childhood-Onset Systemic Lupus Erythematosus
Kathleen Vazzana¹, Anthony Musolf², Joan Bailey-Wilson³, Zuoming Deng³, Mariana Kaplan³ and Laura Lewandowski², ¹National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH)/Children's National Hospital, Washington, DC, ²NIAMS, NIH, Rockville, MD, ³National Institutes of Health, Bethesda, MD
Background/Purpose: Systemic lupus erythematosus (SLE) is a systemic autoimmune disorder that is more severe in children than adults. Due to aggressive disease in childhood-onset SLE…
Abstract Number: 0377 • ACR Convergence 2021
The Prevalence of Inflammatory Back Pain and HLA-B27 in a Large Population-Based Cohort in the Netherlands
Stan Kieskamp, Suzanne Arends, Elisabeth Brouwer, Hendrika Bootsma, Ilja Nolte and Anneke Spoorenberg, University Medical Center Groningen, Groningen, Netherlands
Background/Purpose: Chronic low back pain (CLBP; back pain >3 months) with onset at age < 45 and inflammatory back pain (IBP) are regarded as early…
Abstract Number: 0884 • ACR Convergence 2021
Genetics of Longitudinal Disease Activity in Adults with Systemic Lupus Erythematosus
Linda Hiraki¹, Fangming Liao¹, Dafna Gladman², Ker-Ai Lee³, Zahi Touma⁴, Joan Wither⁵, Richard Cook³ and Murray Urowitz⁶, ¹The Hospital for Sick Children, Toronto, ON, Canada, ²Schroeder Arthritis Institute, Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada, ³Department of Statistics and Actuarial Sciences, University of Waterloo, Waterloo, ON, Canada, ⁴University of Toronto, Mississauga, ON, Canada, ⁵University Health Network, Toronto, ON, Canada, ⁶Center for Prognosis Studies in the Rheumatic Diseases, Toronto Western Hospital, University of Toronto, Lupus Clinic, Toronto, ON, Canada
Background/Purpose: Genetics and gene expression has been shown to correlate with systemic lupus erythematosus (SLE) disease severity. Our aim was to identify genetic risk loci…
Abstract Number: 0517 • ACR Convergence 2021
TPMT and NUDT15 Genotype and Azathioprine Myelotoxicity in Patients with Inflammatory Conditions: Results from Real-World Clinical Practice
Alyson Dickson¹, Laura Daniel², Jacy Zanussi¹, Wei-Qi Wei¹, Dale Plummer¹, William Dupont³, Ge Liu¹, Prathima Anandi¹, Tyler Reese⁴, Kelly Birdwell¹, Vivian Kawai⁵, Adriana Hung¹, Qiping Feng¹, Nancy J. Cox¹, C. Michael Stein¹ and Cecilia Chung¹, ¹Vanderbilt University Medical Center, Nashville, TN, ²Vanderbilt University Medical Center, Pegram, TN, ³Vanderbilt University, Nashville, TN, ⁴Vanderbilt University Medical Center, Madison, TN, ⁵Vanderbilt Universty Medical Center, Nashville, TN
Background/Purpose: Azathioprine is frequently used for the treatment of several inflammatory conditions. However, treatment is often limited by adverse events, in particular myelotoxicity. Both thiopurine-S-methyltransferase…
Abstract Number: 1011 • ACR Convergence 2021
Validation of Bioinformatics Pipeline to Detect NEMO-Deleted Exon 5 Autoinflammatory Syndrome (NEMO-NDAS) and Preliminary Clinical and Immunologic Characterization
Adriana Almeida de Jesus¹, Bin Lin², Eric Karlins³, Dana Kahle⁴, Andre Rastegar², Jacob Mitchell², Sofia Torreggiani², Farzana Bhuyan², Sara Alehashemi⁵, Kader Cetin Gedik⁶, Kat Uss², Chyi-Chia Lee⁷, Hyesun Kuehn⁸, Sergio Rosenzweig⁸, Katherine Calvo⁸, Magdalena Walkiewicz⁹, Justin Lack¹⁰, Eric Hanson¹¹, Amer Khojah¹², Eveline Wu¹³, Christiaan Scott¹⁴, Timothy Ronan Leahy¹⁵, Emma MacDermott¹⁵, Orla Kileen¹⁵, Thaschawee Arkachaisri¹⁶, Zoran Gucev¹⁷, Kathryn Cook¹⁸, Vafa Mammadova¹⁹, Gulnara Nasrullayeva¹⁹, Scott Canna²⁰, Douglas Kuhns²¹, Clifton Dalgard²², Timothy Moran²³, Andrew Oler³ and Raphaela Goldbach-Mansky²⁴, ¹TADS/NIAID/NIH, Silver Spring, MD, ²TADS/NIAID/NIH, Bethesda, MD, ³BCBB/NIAID/NIH, Bethesda, MD, ⁴National Institutes of Health, Chevy Chase, MD, ⁵TADS/NIAID/NIH, Clarksville, MD, ⁶Translational Autoinflammatory Diseases Section (TADS)/NIAID/NIH, Bethesda, MD, ⁷NCI/NIH, Bethesda, MD, ⁸CC/DLM/NIH, Bethesda, MD, ⁹CSI/NIAID/NIH, Bethesda, MD, ¹⁰NCBR/NIAID/NIH, Bethesda, MD, ¹¹Indiana University School of Medicine, Indianapolis, IN, ¹²Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, ¹³UNC Chapel Hill, Chapel Hill, NC, ¹⁴Paediatric Rheumatology, University of Cape Town, Cape Town, South Africa, ¹⁵Children’s Health Ireland (CHI) at Crumlin, Dublin, Ireland, ¹⁶KK Women's and Children's Hospital, SingHealth, Singapore, Singapore, ¹⁷University Children's Hospital, Medical Faculty Skopje, Skopje, Macedonia, ¹⁸Akron Childrens Hospital, Copley, OH, ¹⁹Azerbaijan Medical University, Baku, Azerbaijan, ²⁰Children's Hospital of Philadelphia, Philadelphia, PA, ²¹Frederick National Laboratory for Cancer Research/NIH, Frederick, MD, ²²TAGC/USUHS, Bethesda, MD, ²³University of North Carolina School of Medicine, Chapel Hill, NC, ²⁴NIH/NIAID, Potomac, MD
Background/Purpose: Splice site variants in IKBKG that lead to exon 5 deletion cause NEMO-deleted exon 5 autoinflammatory syndrome (NEMO-NDAS). NEMO-NDAS clinically mimics the interferonopathy chronic…
Abstract Number: 0518 • ACR Convergence 2021
Predicted Expression of Genes Involved in the Thiopurine Metabolic Pathway Is Associated with Azathioprine Discontinuation Due to Bone Marrow Toxicity
Laura Daniel¹, Alyson Dickson², Jacy Zanussi², Tyne Miller-Fleming², Peter Straub², Wei-Qi Wei², Dale Plummer², William Dupont³, Ge Liu², Prathima Anandi², Tyler Reese², Kelly Birdwell², Vivian Kawai⁴, Adriana Hung², Nancy J. Cox², Qiping Feng², C. Michael Stein² and Cecilia Chung², ¹Vanderbilt University Medical Center, Pegram, TN, ²Vanderbilt University Medical Center, Nashville, TN, ³Vanderbilt University, Nashville, TN, ⁴Vanderbilt Universty Medical Center, Nashville, TN
Background/Purpose: Azathioprine is a thiopurine used to treat inflammatory conditions; however, it is often discontinued due to dose-dependent bone marrow toxicity. The Pharmacogenomics Knowledgebase (PharmGKB)…
Abstract Number: 1019 • ACR Convergence 2021
Cigarette Smoking Induces Post-translational Protein Modifications in Both in Vitro and in Vivo Models of Rheumatoid Arthritis-associated Interstitial Lung Disease
Alyssa Gregory¹, Corrine Kliment¹, Geoffrey Thiele², Michael Duryee², Ted Mikuls², Bryant England², Jill Poole² and Dana Ascherman³, ¹University of Pittsburgh School of Medicine, Pittsburgh, PA, ²University of Nebraska Medical Center, Omaha, NE, ³University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Cigarette smoking has been epidemiologically linked to the development of ACPA+ rheumatoid arthritis (RA) and, by extension, RA-associated interstitial lung disease (RA-ILD). Providing strong…
Abstract Number: 0519 • ACR Convergence 2021
The Relationship of Genetics and Clinically Suspect Arthralgia in RA Development Assessed Using HC, CSA and RA Patients
Marc Maurits, Fenne Wouters, Ellis Niemantsverdriet, Tom WJ Huizinga, Annette H.M van der Helm-van Mil and Rachel Knevel, Leiden University Medical Center, Leiden, Netherlands
Background/Purpose: The identification of a pre-RA stage of patients with clinically suspect arthralgia (CSA) has proven to be beneficial in the early detection of Rheumatoid…
Abstract Number: 1021 • ACR Convergence 2021
Organic Dust Exposure Induces Post-translational Protein Modifications and a HLA-DR4-dependent Pro-inflammatory Lung Phenotype in a Murine Model of Interstitial Lung Disease
Jill Poole¹, Ted Mikuls¹, Amy Nelson¹, Rohit Gaurav¹, Michael Duryee¹, Geoffrey Thiele¹, Bryant England¹ and Dana Ascherman², ¹University of Nebraska Medical Center, Omaha, NE, ²University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Environmental and occupational exposures have been epidemiologically linked to the development of rheumatoid arthritis-associated interstitial lung disease (RA-ILD). Previous investigation and modeling have also…
Abstract Number: 0522 • ACR Convergence 2021
Genetics of Rheumatoid Arthritis Remission; HLA-SE Associated with Remission in Anti-CCP Positive Patients
Marc Maurits¹, Samantha Jurado Zapata¹, Yann Abraham², Erik van den Akker¹, Anne Barton³, Philip Brown⁴, Andrew P Cope⁵, Isidoro Gonzalez-Alvaro⁶, Carl Goodyear⁷, Annette H.M van der Helm-van Mil¹, Xinli Hu⁸, Tom WJ Huizinga¹, Martina Johannesson⁹, Lars Klareskog¹⁰, Dennis Lendrem¹¹, Iain McInnes¹², Fraser Morton⁷, Caron Paterson⁷, Duncan Porter¹³, Arthur Pratt¹¹, Luis Rodriguez Rodriguez¹⁴, Daniela Sieghart¹⁵, Paul Studenic¹⁶, Suzanne Verstappen¹⁷, Leonid Padyukov⁹, Aaron Winkler¹⁸, John Isaacs¹⁹ and Rachel Knevel¹, ¹Leiden University Medical Center, Leiden, Netherlands, ²Janssen Pharmaceutical Companies of Johnson & Johnson, Beerse, Belgium, ³University of Manchester, Manchester, United Kingdom, ⁴Newcastle University, Newcastle, United Kingdom, ⁵King's College London, London, United Kingdom, ⁶Rheumatology Service. La Princesa University Hospital, Madrid, Spain, ⁷University of Glasgow, Glasgow, United Kingdom, ⁸Pfizer, Saint Peters, MO, ⁹Karolinska Institutet, Stockholm, Sweden, ¹⁰Division of Rheumatology, Department of Medicine Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden, ¹¹Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom, ¹²University of Glasgow, School of Medicine, Glasgow, Scotland, United Kingdom, ¹³University of Glasgow, Bearsden, United Kingdom, ¹⁴Hospital Clinico San Carlos, Madrid, Spain, ¹⁵Division of Rheumatology, Department of Internal Medicine III, Medical University of Vienna, Vienna, Austria, Vienna, Austria, ¹⁶Karolinska Institute; & Medical University of Vienna, Stockholm, Sweden, ¹⁷School of Social Sciences, The University of Manchester, Manchester, United Kingdom, ¹⁸Pfizer, Cambridge, MA, ¹⁹Newcastle University, Newcastle upon Tyne, United Kingdom
Background/Purpose: Rheumatoid Arthritis (RA) patients capable of reaching clinical remission potentially have a specific genetic profile that allows them to regain immune tolerance. The identification…
Abstract Number: 1105 • ACR Convergence 2021
Discovering Variants in Suspected Monogenic Systemic Inflammatory Disease: An Adult Case Series
Jason An¹, Madeline Couse¹, Dilan Dissanayake², Daniela Dominguez², Ronald Laxer¹, Christian Marshall¹, Johannes Roth³, Robert Rottapel⁴ and Linda Hiraki², ¹SickKids, Toronto, ON, Canada, ²The Hospital for Sick Children, Toronto, ON, Canada, ³University of Ottawa, Ottawa, ON, Canada, ⁴St Michael's Hospital, Toronto, ON, Canada
Background/Purpose: Monogenic systemic inflammatory diseases (MSID) are a heterogeneous group of rare conditions caused by single gene variants leading to immune dysregulation. Diagnostic yield of…
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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