Abstracts tagged "genetics"

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…
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: 0658 • ACR Convergence 2020
Identification of Two Novel Dysfunctional Variants in a Physiologically Important Urate Transporter ABCG2 in Paediatric-onset Familial Hyperuricemia and Gout Patients in Three Generations
Blanka Stiburkova¹, Yu Toyoda², Katerina Pavelcova¹, Jana Bohata¹, Pavel Ješina³, Yu Kubota², Tappei Takada² and Hiroshi Suzuki², ¹Institute of Rheumatology, Prague, Czech Republic, ²Department of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan, Tokyo, Japan, ³Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
Background/Purpose: ABCG2 is a high-capacity urate transporter gene. Common dysfunctional variants of ABCG2 that result in decreased urate excretion in humans are major causes of…
Abstract Number: 1681 • ACR Convergence 2020
Hemophagocytic Lymphohistiocytosis (HLH) Gene Variants in Childhood-onset SLE (cSLE) with Macrophage Activation Syndrome (MAS)
Piya Lahiry¹, Sergey Naumenko², Fangming Liao³, Daniela Dominguez⁴, Andrea Knight⁵, Deborah Levy⁶, Melissa Misztal⁷, Lawrence Ng⁸, Earl D. Silverman⁹ and Linda Hiraki¹⁰, ¹Hospital for Sick Children, Toronto, ON, Canada, ²The Centre for Computational Medicine, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada, ³Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada, ⁴Division of Rheumatology, The Hospital for Sick Children, Toronto, Canada, ⁵Division of Rheumatology, The Hospital for Sick Children and Department of Paediatrics, University of Toronto, Toronto, ON, Canada, ⁶Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ⁷Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Oakville, ON, Canada, ⁸Division of Rheumatology, Hospital for Sick Children, Toronto, Canada, ⁹Division of Rheumatology, The Hospital for Sick Children, Translational Medicine, Research Institute, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto., Toronto, ON, Canada, ¹⁰Division of Rheumatology, The Hospital for Sick Children, Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto., Toronto, ON, Canada
Background/Purpose: Familial Hemophagocytic lymphohistiocytosis (fHLH) is an autosomal recessive, hyper-inflammatory, life-threatening disease. Macrophage activation syndrome (MAS) is also known as secondary HLH due to the…
Abstract Number: 0663 • ACR Convergence 2020
Analysis of Common Gout Comorbidities in the UK Biobank Cohort Reveals Sex-Specific Effects and Genetic Differentiation
Nicholas Sumpter¹, Murray Cadzow², Alexander So³, Richard Reynolds¹ and Tony Merriman², ¹University of Alabama at Birmingham, Birmingham, AL, ²University of Otago, Dunedin, New Zealand, ³University of Lausanne, Lausanne, Switzerland
Background/Purpose: This study aimed to estimate the extent to which gout associated genetic variants are associated with the presence/absence of common comorbidities in gout patients…

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