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Abstracts tagged "SLE and genetics"

  • Abstract Number: 175 • ACR/ARHP Annual Meeting 2017

    Precisely Controlled Differential Gene Expression System to Investigate the Effect of eQTL

    Xiaoming Lu, PhD1,2, Xiaoting Chen1, Carmy Forney1, Connor Schroeder1, John B. Harley1, Matthew Weirauch3 and Leah C. Kottyan4, 1Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 2Immunobiology Graduate Program, University of Cincinnati College of Medicine, Cincinnati, OH, 3Center for Autoimmune Genomics and Etiology (CAGE) and Divisions of Biomedical Informatics and Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 4Center for Autoimmune Genomics and Etiology (CAGE), Division of Allergy and Immunology, Cincinnati Children's Hospital, Cincinnati Children's Hospital Medical Center, Cincinnati, OH

    Background/Purpose: Genome-wide association studies and large-scale sequencing studies identify many non-coding genetic variants that increase disease risk. At least 60% of these loci have been…
  • Abstract Number: 180 • ACR/ARHP Annual Meeting 2017

    Identification of a Functional Susceptible Variant in Distal Enhancer of Mir-146a By CRISPR-Cas9

    Guojun Hou1, Jing Zeng2, Yuanjia Tang3 and Nan Shen4,5, 1Institute of Health Sciences, Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS) &Shanghai Jiao Tong University School of Medicine (SJTUSM), ShangHai, China, 2Shanghai Institute of Rheumatology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China, 3Shanghai Institute of Rheumatology,Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China, 4Shanghai Institute of Rheumatology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China, Shanghai, China, 5The Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, United States of America, Cincinnati, OH

    Background/Purpose: The majority of trait-associated SNPs occur in noncoding regions and are enriched in enhancers. GWAS have identified numerous genetic variants associated with Systemic Lupus…
  • Abstract Number: 2976 • ACR/ARHP Annual Meeting 2017

    Identification of Systemic Lupus Erythematosus Causal Risk Variant Candidates Spanning the UBE2L3 Haplotype

    Jaanam Gopalakrishnan1,2, Shaofeng Wang3, Yao Fu4, Satish Pasula1, Ajay Nair1, Mandi Wiley1 and Patrick Gaffney2,4, 1Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 2Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 3Bethune Institute of Epigenetic Medicine, The First Hospital of Jilin University, Changchun, China, 4Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK

    Background/Purpose: SLE is a prototype systemic autoimmune disease. Genome-wide association studies have fine mapped a 67kb risk haplotype that spans the Ubiquitin-conjugating enzyme E2 L3…
  • Abstract Number: 108 • ACR/ARHP Annual Meeting 2015

    A New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12

    F. Yesim Demirci1, Xingbin Wang1, Jennifer A. Kelly2, David L. Morris3, M. Michael Barmada1, Eleanor Feingold1, Amy H. Kao4, Kathy L. Sivils5, Sasha Bernatsky6, Christian A. Pineau6, Ann Clarke7, Rosalind Ramsey-Goldman8, Timothy Vyse9, Patrick M. Gaffney10, Susan Manzi11 and M. Ilyas Kamboh12, 1Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, 2Arthritis & Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 3Department of Medical & Molecular Genetics, King's College London, London, United Kingdom, 4Lupus Center of Excellence, Department of Medicine, West Penn Allegheny Health System, Pittsburgh, PA, 5Oklahoma Medical Research Foundation, Oklahoma City, OK, 6Divisions of Rheumatology and Clinical Epidemiology, McGill University Health Centre, Montreal, QC, Canada, 7Division of Rheumatology, Department of Medicine, University of Calgary, Calgary, AB, Canada, 8Northwestern University Feinberg School of Medicine, Chicago, IL, 9Division of Genetics and Molecular Medicine and Division of Immunology, Infection and Inflammatory Disease, King's College London, London, United Kingdom, 10Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, 11Internal Medicine, West Penn Allegheny Health System, Pittsburgh, PA, 12Human Genetics, University of Pittsburgh, Pittsburgh, PA

    Background/Purpose: Genome-wide association studies (GWASs) and large follow-up studies in European-descent or Asian subjects have identified a number of susceptibility loci for systemic lupus erythematosus…

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