Abstracts tagged "genetics"

Abstract Number: 1780 • ACR Convergence 2024
Next Generation Sequencing Analysis Reveals Complex Genetic Architecture of Childhood-onset Systemic Lupus Erythematosus
Laura Lewandowski¹, Linda Hiraki², Christiaan Scott³, Ana Barrera-Vargas⁴, Diana Gómez-Martin⁵, Michael Ombrello⁶, Ivona Aksentijevich⁷, Zuoming deng⁸, Anthony Musolf⁹, Subrata Paul¹⁰, Dan Hupalo¹¹, Clifton Dalgard¹¹, Sarfaraz Hasni¹², Earl Silverman¹³ and Mariana Kaplan¹⁴, ¹NIAMS, NIH, Bethesda, MD, ²The Hospital for Sick Children, Toronto, ON, Canada, ³Pediatric Rheumatology, Children’s Hospital of Eastern Ontario and University of Ottawa, Ottawa, ON, Canada, ⁴Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Ciudad de México, Federal District, Mexico, ⁵INCMNSZ, Mexico, Distrito Federal, Mexico, ⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), North Bethesda, MD, ⁷National Human Genome Research Institute, NIH, Bethesda, MD, ⁸National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, Bethesda, MD, ⁹Computational and Statistical Genomics Branch, NHGRI, NIH, Baltimore, MD, ¹⁰Collaborative Bioinformatics Resource, NIAID, NIH, Bethesda, MD, ¹¹The American Genome Center, Department of Anatomy, Physiology & Genetics, Uniformed Services University, Bethesda, MD, ¹²National Institutes of Health, Bethesda, MD, ¹³Silverman, Toronto, ON, Canada, ¹⁴NIAMS/NIH, Bethesda, MD
Background/Purpose: Systemic Lupus Erythematosus (SLE) is a potentially life-threatening autoimmune disease. Childhood-onset SLE (cSLE) patients have younger disease onset and more severe disease than adults,…
Abstract Number: 2516 • ACR Convergence 2024
Exome-Wide Rare Variant Association Study of Takayasu’s Arteritis
Yiming Luo¹, Zuoming deng², Kaitlin Quinn³, Keith Sikora⁴, Daniel Kastner⁵, Krzysztof Kiryluk¹, Amr Sawalha⁶, Peter Merkel⁷ and Peter Grayson⁸, and the Vasculitis Clinical Research Consortium, ¹Columbia University Irving Medical Center, New York, NY, ²National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, Bethesda, MD, ³National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ⁴National Institutes of Health, Bethesda, MD, ⁵National Human Genome Research Institute, Bethesda, MD, Bethesda, MD, ⁶University of Pittsburgh, Pittsburgh, ⁷University of Pennsylvania, Philadelphia, PA, ⁸National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Chevy Chase, MD
Background/Purpose: Takayasu’s arteritis (TAK) is a rare inflammatory disease primarily involving the aorta and its major branches. Multiple genetic association studies on common variants in…
Abstract Number: 0553 • ACR Convergence 2024
Analyzing the Utilization of HLA-B27 Testing in a Large Rural Health System: Implications for Diagnostic Appropriateness
Sanjeev Shrestha¹, Angela Bobak², Idorenyin Udoeyo³, Pradeep Puri⁴, Jordan Law⁵ and David Bulbin⁶, ¹Geisinger Medical Center, Bloomsburg, PA, ²Geisinger Medical Center Internal Medicine Residency, Danville, PA, ³Geisinger Medical Center, Danville, PA, ⁴Geisinger Medical Center, Danville, ⁵Geisinger Health System, Danville, ⁶Geisinger Health System, Danville, PA
Background/Purpose: Human leukocyte antigen (HLA)-B27 is linked to spondyloarthropathies (SpA), uveitis, and inflammatory bowel disease (IBD). By analyzing ordering diagnoses and final diagnoses during patient…
Abstract Number: 0917 • ACR Convergence 2024
Role of Mutual Information Profile Shifts in Assessing the Pathogenicity of Mutations on Protein Functions: The Case of Pyrin Mutations in Familial Mediterranean Fever
Aysima Hacisuleyman¹, Ahmet Gul² and Burak Erman³, ¹Department of Computational Biology, University of Lausanne, Lausanne, Switzerland, ²Division of Rheumatology, Department of Internal Medicine, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, Istanbul, Turkey, ³3Chemical and Biological Engineering, Koc University, Istanbul, Turkey
Background/Purpose: Predicting the pathogenicity of amino acid substitutions is crucial for understanding the functional consequences of genetic variations. Several computational methods frequently used so far…
Abstract Number: 1782 • ACR Convergence 2024
DOCK2 Mutations and Hyper-Inflammatory Syndromes
Randy Cron, Mingce Zhang and Prescott Atkinson, University of Alabama at Birmingham, Birmingham, AL
Background/Purpose: Cytokine storm syndromes (CSS) are frequently fatal hyper-inflammatory complications of a variety of oncologic, rheumatic, and infectious diseases. Many patients with CSS possess heterozygous…
Abstract Number: 2533 • ACR Convergence 2024
Genome-wide Association of Rheumatoid Arthritis in the African Ancestry Identifies HLA Amino Acid Polymorphisms of Risk
Harrison Zhang¹, Saori Sakaue², Daniel Posner³, Jing Cui⁴, Dorris Yang⁵, Ashley Budu-Aggrey⁶, Yuk-Lam Ho³, Lauren Costa³, Rachael Matty³, Selena Huang¹, Paul Monach⁷, Kazuyoshi Ishaigaki⁸, Monika Maripuri⁷, Connor Melley⁷, Vidisha Tanukonda⁷, Rahul Sangar³, Gregory McDermott⁹, Mary Jeffway¹, Vincent Laufer¹⁰, Yukinori Okada¹¹, Ian Scott¹², S. Louis Bridges¹³, Kelly Cho³, Chuan Hong¹⁴, Jennifer E. Huffman¹⁵, Tianxi Cai¹⁶, Soumya Raychaudhuri¹ and Katherine Liao¹, and the VA Million Veteran Program, ¹Brigham and Women's Hospital, Boston, MA, ²Brigham and Women's Hospital, Cambridge, MA, ³U.S. Department of Veterans Affairs, Boston, MA, ⁴Brigham Women's Hospital, Boston, MA, ⁵Harvard Medical School, Cambridge, MA, ⁶Bristol Medical School, Manchester, United Kingdom, ⁷VA Boston Healthcare System, Boston, MA, ⁸Keio University School of Medicine, Tokyo, Japan, ⁹Brigham and Women's Hospital, Brookline, MA, ¹⁰Michigan Medicine, Birmingham, AL, ¹¹Graduate School of Medicine, the University of Tokyo, Tokyo, Japan, ¹²School of Medicine, Keele University, Keele, United Kingdom, ¹³Division of Rheumatology, Weill Cornell Medical College, New York, NY, ¹⁴Duke University, Durham, NC, ¹⁵VA Boston Healthcare System, Palo Alto, ¹⁶Harvard T.H. Chan School of Public Health, Boston, MA
Background/Purpose: The association between RA and the MHC is largely explained by five amino acid (AA) positions: DRB1 positions 11, 13, 71, and 74, HLA-B…
Abstract Number: 0567 • ACR Convergence 2024
Alteration of JAK-STAT Signaling in an Axial Spondyloarthritispatient with TYK2 Variants
Pankaj Sharma¹, Fatemeh Navid¹, Norman Watts¹, Stephen Brooks² and Robert Colbert², ¹National Institutes of Health, Bethesda, MD, ²NIH/NIAMS, Bethesda, MD
Background/Purpose: Tyrosine kinase 2 (TYK2) is a member of the Janus kinase family that associates with the cytoplasmic domain of type I/II cytokine receptors and…
Abstract Number: 0981 • ACR Convergence 2024
The Causal Effect of Sex Hormone-related Drugs on the Risk of Osteoarthritis – A Mendelian Randomization Study
Xing Xing¹, Ziyuan Shen², Jianan Zhu³, Yining Wang², Xingzhong Jin⁴ and Guoqi Cai², ¹Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Baltimore, MD, ²Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, China (People's Republic), ³Department of Biostatistics, School of Public Health, New York University, New York, NY, ⁴Centre for Big Data Research in Health, University of New South Wales, Sydney, Australia
Background/Purpose: Osteoarthritis (OA) is a prevalent joint disorder characterized by joint pain, disability, and the loss of articular cartilage, imposing a significant burden on patients…
Abstract Number: 2032 • ACR Convergence 2024
A Systematic Review of Treatment Strategies in VEXAS Syndrome
Aviraag Vijaya Prakash¹, Jose Garcia², Anurag Goel³, Vinit Gilvaz⁴ and Raveena Midha⁵, ¹Saint Vincent Hospital, Department of Internal Medicine, Worcester, MA, ²Brown University, East Greenwich, RI, ³The Warren Alpert Medical School of Brown University, Providence, RI, ⁴The Warren Alpert Medical School of Brown University, East Providence, RI, ⁵Kent Hospital/Brown University, Warwick, RI
Background/Purpose: VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome, first described in 2020, is an autoinflammatory condition characterized by somatic mutations in the UBA1 gene.…
Abstract Number: 2538 • ACR Convergence 2024
HLA-DRB1 Rheumatoid Arthritis (RA) Risk Alleles Preferentially Select TRBJ2-3-containing CD4 T Cells in RA Patients
Amit Lakhanpal¹, Kazuyoshi Ishigaki², Anvita Singaraju¹, Alejandro Kochen³, Miriam Fein¹, Soumya Raychaudhuri⁴ and Laura Donlin¹, ¹Hospital for Special Surgery, New York, NY, ²Department of Microbiology and Immunology, Keio University School of Medicine, Tokyo, Japan; Keio University Human Biology-Microbiome-Quantum Research Center (WPI-Bio2Q);; Laboratory for Human Immunogenetics, Riken Center for Integrative Medical Sciences, Bunkyo-ku, Tokyo, Japan, ³Yale School of Medicine, New Haven, CT, ⁴Brigham and Women's Hospital, Boston, MA
Background/Purpose: The largest genetic risk factor for RA localizes to the MHC Class II HLA-DRB1 gene, which encodes the machinery for antigen presentation to CD4…
Abstract Number: 0800 • ACR Convergence 2024
Associations of Rheumatoid Arthritis Polygenic Risk with Age at Onset, Serostatus, and Interstitial Lung Disease
Gregory McDermott¹, Pierre-Antoine Juge², Keigo Hayashi³, Xiaosong Wang⁴, Misti Paudel⁵, Sung Hae Chang⁶, Qianru Zhang⁷, Vanessa Kronzer⁸, Kevin Mueller⁹, Alene Saavedra⁹, Katarina Bade⁹, Grace Qian⁴, Emily Kowalski⁹, Kathleen Vanni⁴, Jing Cui⁹ and Jeffrey Sparks¹⁰, ¹Brigham and Women's Hospital, Brookline, MA, ²Departement of Rheumatology, AP-HP, Bichat Hospital, Boston, MA, ³Brigham and Women’s Hospital, Brookline, MA, ⁴Brigham and Women’s Hospital, Boston, MA, ⁵Brigham and Women's Hospital, Division of Rheumatology, Inflammation, and Immunity, Boston, MA, ⁶Soonchunhyang University College of Medicine, Bongmyeong-dong, Dongnam-gu, Cheonan-si, South Korea, ⁷Harard Medical School, Cambridge, ⁸Mayo Clinic, Rochester, MN, ⁹Brigham and Women's Hospital, Boston, MA, ¹⁰Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA, Boston, MA
Background/Purpose: Recent rheumatoid arthritis (RA) genome-wide association studies (GWAS) identified 196 risk loci. Polygenic risk scores (PRS) use GWAS summary statistics to aggregate genome-wide genetic…
Abstract Number: 0996 • ACR Convergence 2024
Myocarditis Following Pfizer-BioNTech BNT162b2 Vaccine: Epidemiology and Predisposition
Enelle Mevorach, Adi Tabib and Dror Mevorach, Hadassah-University Hospital, Jerusalem, Israel
Background/Purpose: Following Pfizer-BioNTech BNT162b2 vaccine authorization, Israel initiated a nationwide COVID-19 vaccination campaign. The vaccine caused a higher incidence of myocarditis in young males. Here,…
Abstract Number: 2054 • ACR Convergence 2024
Phenotypical Differences in VEXAS Syndrome, Where Are We a Year Later? Results from a National Cohort Focused on Rheumatological Patients
Paula García Escudero¹, Marta López I Gómez², Berta Magallanes López³, Diego Dios Santos⁴, Francisco Javier Toyos Sáenz de Miera⁵, Alicia García Dorta⁶, José Ángel Hernández Beriain⁷, Íñigo Rúa-Figueroa⁸, cristiana sieiro santos⁹, Elvira Díez Álvarez¹⁰, Marta Ibáñez Martínez¹¹, Beatriz Frade-Sosa¹², Judit Font Urgelles¹³, Meritxell Sallés Lizarzaburu¹⁴, Elena Riera Alonso¹⁵, Ernesto Trallero Araguás¹⁶, Eugenia Enríquez Merayo¹⁷, Maria Rodriguez-Laguna¹⁸, irene monjo¹⁹, Carolina Merino²⁰, Paloma Vela-Casasempere²¹, Ignacio Vázquez Gómez²², Jose Alberto Miranda Filloy²³, Rafael Benito Melero-Gonzalez²⁴, Clara Garcia Belando²⁵, Giuliano Boselli²⁶, Alina Lucica Boteanu²⁷, Dolly Viviana Fiallo Suárez²⁸, Cristina Corrales Selaya²⁹, ALBERTO MARIANO RUIZ ROMAN³⁰ and Jaime Calvo-Alén³¹, ¹Hospital Universitario Araba, Vitoria, ²Hospital Universitario Alava, Vitoria, Pais Vasco, Spain, ³Hospital de la Santa Creu i Sant Pau, Barcelona, ⁴C. H. U. A Coruña, C. H. U. A Coruña, ⁵H. U. Virgen Macarena, H. U. Virgen Macarena, ⁶Rheumatologist, La Laguna, Spain, ⁷Rheumatology Department. Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran C, Spain, ⁸Department of Rheumatology, Hospital Universitario Doctor Negrín, Las Palmas de Gran Canaria, Las Palmas GC, Spain, ⁹Rheumatology Department, Complejo Asistencial Universitario de León, León, Spain, Leon, Spain, ¹⁰Complejo Asistencial Universitario de León, León, Spain, ¹¹Hospital Clínico Universitario de Salamanca, Salamanca, Spain, ¹²Hospital Clinic de Barcelona, Barcelona, Spain, ¹³Hospital Universitari Germans Trias i Pujol, Badalona, Spain, ¹⁴Althaia Xarxa Assistencial Universitària Manresa, Manresa, Catalonia, Spain, ¹⁵Mutua de Terrasa, Barcelona, ¹⁶Hospital Vall D'Hebron, Barcelona, Spain, ¹⁷Hospital 12 de Octubre, Madrid, ¹⁸Resident in Rheumatology, Madrid, Spain, ¹⁹University Hospital La Paz, Madrid, Spain, ²⁰Hospital Universitario Puerta de Hierro Majadahonda., Majadahonda (Madrid), Spain, ²¹Hospital General Universitario Alicante, Alicante, Spain, ²²H. U. Dr. Peset, Valencia, ²³C. H. U. Lucus Augusti, Lugo, Spain, ²⁴CHU Ourense, O Carballino, Spain, ²⁵H. C. U. Virgen de la Arrixaca, Murcia, ²⁶hospital miguel servet, zaragoza, Aragon, Spain, ²⁷H.U. Ramón y Cajal, Madrid, Spain, ²⁸H. U. de Gran Canaria. Dr. Negrin, H. U. de Gran Canaria, ²⁹Rheumatology, Marques de Valdecilla University Hospital. IDIVAL, Santander, Cantabria, Spain, ³⁰Hospital Universitario Juan Ramón Jiménez, Huelva, Spain, ³¹Department of Rheumatology, Hospital Araba, Vitoria, Pais Vasco, Spain
Background/Purpose: VEXAS syndrome is an autoinflammatory disorder caused by a mutation in the UBA1 gene, which leads to a heterogeneous clinical presentation and progressive bone…
Abstract Number: 2602 • ACR Convergence 2024
Genetics of Sex Dimorphism in Clinical Manifestations of Systemic Lupus Erythematosus
Caseng Zhang¹, Nicholas Gold², Raffaella Carlomagno³, JingJing Cao⁴, Daniela Dominguez⁴, Dafna Gladman⁵, Mariko Ishimori⁶, Caroline Jefferies⁷, Diane Kamen⁸, Sylvia Kamphuis⁹, Marisa Klein-Gitelman¹⁰, Andrea Knight¹¹, Chia-Chi Lee¹², Deborah Levy², Lawrence Ng², Karen Onel¹³, Andrew Paterson⁴, Christine Peschken¹⁴, Janet Pope¹⁵, Earl Silverman¹⁶, Zahi Touma¹⁷, Murray Urowitz¹⁸, Daniel Wallace¹⁹, Joan Wither²⁰ and Linda Hiraki², ¹University of Ottawa, Ottawa, ON, Canada, ²The Hospital for Sick Children, Toronto, ON, Canada, ³Lausanne University Hospital, Toronto, ON, Canada, ⁴The Hospital for Sick Children, Toronto, Canada, ⁵University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, ⁶Cedars-Sinai Health System, Los Angeles, CA, ⁷Cedars-Sinai Medical Center, Beverly Hills, CA, ⁸Medical University of South Carolina, Charleston, SC, ⁹Erasmus University Medical Center, Rotterdam, Netherlands, ¹⁰Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, ¹¹Division of Rheumatology, The Hospital for Sick Children; Neurosciences and Mental Health, SickKids Research Institute; Department of Paediatrics, University of Toronto, Toronto, ON, Canada, ¹²Cedars-Sinai Medical Center, Los Angeles, CA, ¹³HSS, New York, NY, ¹⁴University of Manitoba, Winnipeg, MB, Canada, ¹⁵University of Western Ontario, London, ON, Canada, ¹⁶Silverman, Toronto, ON, Canada, ¹⁷University of Toronto, Toronto, ON, Canada, ¹⁸Self employed, Toronto, ON, Canada, ¹⁹Cedars Sinai Medical Center, Studio City, CA, ²⁰University Health Network, Toronto, ON, Canada
Background/Purpose: Systemic lupus erythematosus (SLE) is a complex chronic autoimmune disease with multi-organ involvement and a strong female predominance. Prior studies demonstrated sex dimorphism in…
Abstract Number: 0814 • ACR Convergence 2024
Rare Variants of PAH Risk Genes Associate with a Distinct Vasculopathy Phenotype and Worse Outcomes in Patients with Systemic Lupus Erythematosus-associated Pulmonary Arterial Hypertension
Junyan Qian¹, Xinzhuang Yang², Yu Fang Ding³, qian wang¹, Jiuliang Zhao¹, Weida Liu⁴, Yongtai Liu⁵, Zhuang Tian⁵, Yanhong Wang⁶, Xiaojian Wang⁷, Mengtao Li¹ and Xiaofeng Zeng⁸, ¹Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China 2National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, Beijing, China, ²Center for Bioinformatics, National Infrastructures for Translational Medicine, Institute of Clinical Medicine & Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China, ³Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China 2National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, BEIJING, China (People's Republic), ⁴State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China, ⁵Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China, ⁶Department of Epidemiology and Biostatistics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China, ⁷State Key Laboratory of Cardiovascular Disease, Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China, ⁸Department of Rheumatology, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Beijing, China
Background/Purpose: Systemic lupus erythematosus (SLE)-associated pulmonary arterial hypertension (PAH) displays significant clinical heterogeneity; nevertheless, the underlying mechanisms remain unclear. Presently, more than twenty risk genes…

« Previous Page
1
…
4
5
6
7
8
…
29
Next Page »

All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, 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 of editorial news coverage) is under media embargo until 10:00 AM CT on October 25. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying colleagues, institutions, communications firms, and all other stakeholders related to the development or promotion of the abstract about this policy. If you have questions about the ACR abstract embargo policy, please contact ACR abstracts staff at [email protected].