Abstracts tagged "genetics"

Abstract Number: 1581 • ACR Convergence 2021
Genetic Effects on the Transition from Hyperuricemia to Gout
Nicholas Sumpter¹, Riku Takei¹, Richard Reynolds¹ and Tony Merriman², ¹University of Alabama at Birmingham, Birmingham, AL, ²University of Alabama at Birmingham, Dunedin, New Zealand
Background/Purpose: There is clear evidence of genetic control of hyperuricemia resulting in increased gout risk, however genetic control of the transition from hyperuricemia to gout…
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: 0372 • ACR Convergence 2020
Tumor Necrosis Factor-α Receptor 2 Polymorphisms and Response to TNF Inhibitor Therapy in Patients with Psoriatic Arthritis
Sarah Rasheed¹, MacKenzie Dunlap¹, Jennifer Harvey¹, Connery Brennan¹, Yuxuan Jin², Unnikrishnan Chandrasekharan³ and M. Elaine Husni², ¹Cleveland Clinic Foundation, Cleveland, ²Cleveland Clinic, Cleveland, OH, ³Cleveland Clinic Foundation, Cleveland, OH
Background/Purpose: Tumor necrosis factor inhibitors (TNFi) have significantly improved the prognosis of patients with psoriatic arthritis (PsA); however, approximately 40% of patients do not achieve…
Abstract Number: 1667 • ACR Convergence 2020
Development of Autoimmune Diseases and HLA Associations in Children with Neonatal Lupus and Their Unaffected Siblings
Amit Saxena¹, Aaron Garza Romero², Daniel Gratch³, Peter Izmirly⁴, Hannah Ainsworth⁵, Miranda Marion⁵, Carl Langefeld⁶, Robert Clancy⁷ and Jill Buyon⁸, ¹NYU School of Medicine, New York, ²Gonzaba Medical Group, San Antonio, ³NYU Langone Health, New York, ⁴Department of Medicine, New York University School of Medicine, New York, NY, ⁵Wake Forest School of Medicine, Winston-Salem, ⁶Wake Forest School of Medicine, Winston Salem, NC, ⁷New York University School of Medicine, New York, NY, ⁸Department of Medicine, NYU School of Medicine, New York, NY
Background/Purpose: Neonatal Lupus (NL) is a model of passively acquired autoimmunity conferred by exposure to maternal anti-Ro antibodies with major manifestations being congenital heart block…
Abstract Number: 0426 • ACR Convergence 2020
T-Cell Receptor (TCR) Sequencing Reveals Decreased Diversity and Clonotypic Expansion of T-cells in Relapsing Polychondritis (RP)
Emily Rominger¹, Sufia Bakshi², Emily Rose³, Marcela Ferrada³, Peter C. Grayson⁴, Robert Colbert⁵ and Keith Sikora⁶, ¹Systemic Autoimmunity Branch, Vasculitis Translational Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, ²National Institutes of Health, Bethesda, MD, ³Systemic Autoimmunity Branch, Vasculitis Translational Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁴Systemic Autoimmunity Branch, National Institutes of Health, NIAMS, Bethesda, MD, ⁵Pediatric Clinical Trials Unit and Office of Clinical Director, NIAMS, NIH, Bethesda, MD, ⁶National Institutes of Health Clinical Center, Bethesda, MD
Background/Purpose: Relapsing polychondritis (RP) is a rare, systemic inflammatory disease characterized by recurrent inflammation of cartilaginous structures, including the nose/ears, joints, and trachea. The etiology of…

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