Abstracts tagged "SLE and genetics"

Abstract Number: 175 • 2017 ACR/ARHP Annual Meeting
Precisely Controlled Differential Gene Expression System to Investigate the Effect of eQTL
Xiaoming Lu, PhD^1,2, 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 • 2017 ACR/ARHP Annual Meeting
Identification of a Functional Susceptible Variant in Distal Enhancer of Mir-146a By CRISPR-Cas9
Guojun Hou¹, Jing Zeng², Yuanjia Tang³ and Nan Shen^4,5, 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 • 2017 ACR/ARHP Annual Meeting
Identification of Systemic Lupus Erythematosus Causal Risk Variant Candidates Spanning the UBE2L3 Haplotype
Jaanam Gopalakrishnan^1,2, Shaofeng Wang³, Yao Fu⁴, Satish Pasula¹, Ajay Nair¹, Mandi Wiley¹ and Patrick Gaffney^2,4, 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 • 2015 ACR/ARHP Annual Meeting
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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