Abstracts tagged "genetics"

Abstract Number: 0576 • ACR Convergence 2021
Associations of the MUC5B Promoter Variant with Timing of Articular Diagnosis and Interstitial Lung Disease in Rheumatoid Arthritis
Gregory McDermott¹, Ritu Gill², Staci Gagne³, Suzanne Byrne³, Weixing Huang³, Jing Cui⁴, Lauren Prisco⁵, Alessandra Zaccardelli³, Lily Martin³, Nancy Shadick⁶, Paul Dellaripa³, Tracy Doyle⁷ and Jeffrey Sparks³, ¹Brigham and Women's Hospital, Brookline, MA, ²Beth Israel Deaconess Medical Center, Boston, MA, ³Brigham and Women's Hospital, Boston, MA, ⁴Brigham Women's Hospital, Boston, MA, ⁵Brigham and Women's Hospital, Pound Ridge, MA, ⁶Brigham & Women's Hospital, Boston, MA, ⁷Brigham and Women's Hospital, West Roxbury, MA
Background/Purpose: The common promoter variant of MUC5B (G >T, rs35705950) is associated with increased mucin 5B production in lung parenchyma and is an established genetic…
Abstract Number: 1658 • ACR Convergence 2021
Risk of Other Autoimmune Conditions Among Relatives of Patients with Rheumatoid Arthritis
Katherine Liao¹, Thany Seyok¹ and Lisa Cannon-Albright², ¹Brigham and Women's Hospital, Boston, MA, ²University of Utah School of Medicine, Salt Lake City, UT
Background/Purpose: Autoimmune conditions appear to cluster in families, as may be expected by shared genetic risk factors in conditions such as rheumatoid arthritis (RA), autoimmune…
Abstract Number: 0669 • ACR Convergence 2021
Early-Onset Gout (EOG) Patients Are an Important and Recalcitrant Phenotype Warranting Further Investigation: A Systematic Review
Anthony Amatucci¹, Brian LaMoreaux² and David Bulbin³, ¹Horizon Therapeutics, West Orange, NJ, ²Horizon Therapeutics plc, Deerfield, IL, ³Geisinger Health System, Danville, PA
Background/Purpose: Data suggests that the number of patients with early-onset gout (EOG), defined as patients under the age of 40 years, is increasing1. There is…
Abstract Number: 1928 • ACR Convergence 2021
In Vitro and In Vivo Evidence for DOCK8 as a Risk Allele for Cytokine Storm Syndrome, Including COVID-19 and MIS-C

Randy Cron¹, Mingce Zhang¹, Niansheng Chu², Devin Absher³, John Bridges¹, Amanda Schnell¹, Anshul Vagrecha⁴, Shannon Lozinsky⁴, Suchitra Acharya⁴, Carolyn Levy⁴, Winn Chatham¹ and Edward Behrens², ¹University of Alabama at Birmingham, Birmingham, AL, ²University of Pennsylvania, Philadelphia, PA, ³HudsonAlpha Institute for Biotechnology, Huntsville, AL, ⁴Hofstra/Northwell School of Medicine, Hempstead, NY
Background/Purpose: Cytokine storm syndromes (CSS) are frequently fatal complications of a variety of oncologic, rheumatic, and infectious diseases. Many patients with CSS possess heterozygous missense…
Abstract Number: 0672 • ACR Convergence 2021
Does Obesity Affect Gout Risk Differently Among Genetically Predisposed Individuals?: Sex-Specific Prospective Cohort Study Findings over >32 Years
Chio Yokose¹, Natalie McCormick², Na Lu³, Amit Joshi² and Hyon K. Choi⁴, ¹Massachusetts General Hospital, Waltham, MA, ²Massachusetts General Hospital, Boston, MA, ³Arthritis Research Canada, Vancouver, BC, Canada, ⁴Massachusetts General Hospital, Lexington, MA
Background/Purpose: Two recent analyses of the Global Burden of Disease Study reported on the rising global burden of gout (Safiri A&R 2020, Xia Rheumatology 2020).…
Abstract Number: 0017 • ACR Convergence 2021
Lessons Learnt from Associations Between Anti-modified Protein Antibodies and Risk Factors: Human Leukocyte Antigen – Shared Epitope Alleles Solely Associate with Anti-citrullinated Protein Antibodies
Tineke J van wesemael, Annemarie L. Dorjee, Tom WJ Huizinga, Annette H.M van der Helm-van Mil, René Toes and Diane van der Woude, Leiden University Medical Center, Leiden, Netherlands
Background/Purpose: Rheumatoid arthritis (RA) is characterized by the presence of auto-antibodies to post translationally modified proteins (anti-modified protein antibodies (AMPA)): anti-citrullinated protein antibodies (ACPA), anti-carbamylated…
Abstract Number: 0776 • ACR Convergence 2021
Genetics of Neonatal Lupus Erythematosus Risk and Specific Manifestations
Melissa Misztal¹, Fangming Liao², Talia Diaz², Zeynep Baskurt², JingJing Cao², Daniela Dominguez², Deborah Levy², Andrea Knight³ and Linda Hiraki², ¹The Hospital for Sick Children, Oakville, ON, Canada, ²The Hospital for Sick Children, Toronto, ON, Canada, ³Hospital for Sick Children, Toronto, ON, Canada
Background/Purpose: Neonatal lupus erythematosus (NLE) is a passively acquired autoimmune disease in infants, secondary to the transplacental passage of maternal autoantibodies against Ro and/or La.…
Abstract Number: 0326 • ACR Convergence 2021
Apolipoprotein L1 (APOL1) in African-American SLE: Frequency and Clinical Associations
Michelle Petri¹, Romy Kallas², Jessica Li³, Laurence Magder⁴ and Daniel Goldman¹, ¹Johns Hopkins University School of Medicine, Baltimore, MD, ²Lankenau Medical Center, Lankenau, PA, ³Johns Hopkins University, Baltimore, MD, ⁴University of Maryland, Baltimore, Baltimore, MD
Background/Purpose: The APOL1 gene is implicated in induction of TLR3 agonists and interferons as well as in autophagy. Two genetic variants, G1 (2 single nucleotide…
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…

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