Abstracts tagged "polymorphism and systemic lupus erythematosus (SLE)"

Abstract Number: 754 • 2015 ACR/ARHP Annual Meeting
Glutathione S Transferases (GST) Polymorphisms Are Independents Predictors of Efficacy and Toxicity in Lupus Nephritis Treated with Cyclophosphamide
Alexandra Audemard-Verger¹, Nicolas Martin Silva², Céline Verstuyft³, Nathalie Costedoat-Chalumeau⁴, Aurélie Hummel⁵, Véronique Le Guern⁴, Karim Sacre⁶, Olivier Meyer⁷, Eric Daugas⁸, Cecile Goujard⁹, Audrey Sultan², Thierry Lobbedez², Lionel Galicier¹⁰, Jacques Pourrat¹¹, Claire Le Hello², Michel Godin¹², Remy Morello², Marc Lambert¹³, Eric Hachulla¹³, Philippe Vanhille¹⁴, Guillaume Queffeulou¹⁵, Jacques Potier¹⁵, Jean Jacques Dion¹⁶, P Bataille¹⁷, Dominique Chauveau¹⁸, Guillaume Moulis¹⁹, Dominique Farge²⁰, Pierre Duhaut²¹, Bernadette Saint Marcoux²², Alban Deroux²³, Jennifer Manuzak²⁴, Camille Francès²⁵, Olivier Aumaître²⁶, Holy Bezanahary²⁷, Laurent Becquemont²⁸ and Boris Bienvenu²⁹, ¹Internal Medicine, CHU Caen, caen, France, ²CHU Caen, caen, France, ³Pharmacology, Hopital Bicêtre, Le Kremlin Bicêtre, France, ⁴Internal Medicine Department, Cochin Hospital, “René-Descartes Paris V” University, Paris, France, ⁵Necker, paris, France, ⁶Internal Medicine, Hospital Bichat, Paris, France, ⁷Rheumatology, Hopital Bichat, Paris, France, ⁸Internal Medicine, AP-HP Hôpital Bîchat, Paris, France, ⁹Bichat, Paris, France, ¹⁰Clinical Immunology, St Louis Hospital, Paris, France, ¹¹Nephrology, Rangeuil Hospital, Paris, France, ¹²CHU Rouen, Rouen, France, ¹³CHU Lille, Lille, France, ¹⁴Department of Nephrology and Internal Medicine, Hospital of Valenciennes, Valenciennes, France, Valenciennes, Valenciennes, France, ¹⁵Ch Cherbourg, Cherbourg, France, ¹⁶Ch Charleville Mezeiere, Charleville Mezeiere, France, ¹⁷Ch Boulogne sur Mer, Boulogne sur Mer, France, ¹⁸CH Toulouse, Toulouse, France, ¹⁹CHU Purpan, Toulouse, France, ²⁰Internal Medicine, Hopital St Louis, Paris, France, ²¹Department of Internal Medicine and RECIF, CHU Amiens, Amiens, France, ²²CH Aulnay sous Bois, Aulnay sous Bois, France, ²³Internal Medicine, CHU Grenoble, Grenoble, France, ²⁴Institut Cochin, Paris, France, ²⁵Dermatology Service, Tenon Hospital, Paris, France, ²⁶Department of Internal Medicine 2. Referal center for SLE/APS, CHU Pitié-Salpêtrière, Paris, France, ²⁷Internal Medicine, University Hospital of Limoges, Limoges, France, ²⁸KB, Paris, France, ²⁹Internal Medicine, Hospital Caen, Caen, France
Background/Purpose: Cyclophosphamide (CYC) is effective in inducing remission of lupus nephritis (LN). CYC, as a pro-drug, requires bioactivation through multiple hepatic cytochrome P450s and glutathione…
Abstract Number: 2684 • 2014 ACR/ARHP Annual Meeting
Association of Adam33 Polymorphisms with Systemic Lupus Erythematosus
Seong-Wook Kang¹, Seung-Taek Song¹, Su-Jin Yoo², Mi-Kyoung Lim³, Dong-Hyuk Sheen⁴, In-Seol Yoo⁵, Jinhyun Kim¹ and Seung-Cheol Shim¹, ¹Department of Internal Medicine, Chungnam National University School of Medicine, Daejeon, South Korea, ²Rheumatology, Chungnam National University School of Medicine, Daejeon, South Korea, ³Rheumatology, Eulji University Hospital, Daejeon, South Korea, ⁴Department of Internal Medicine, Eulji University Hospital, Daejeon, South Korea, ⁵Departmen of Internal medicine, Chungnam National University School of Medicine, Daejeon, South Korea
Background/Purpose A Disintegrin and Metalloprotease 33 (ADAM33) is a member of a family of genes that encode membrane-anchored proteins with a disintegrin and a metalloprotease…
Abstract Number: 2673 • 2014 ACR/ARHP Annual Meeting
High-Throughput Sequencing of 219 Candidate Genes for Identification of SLE-Associated Risk Variants
Fabiana Farias¹, Maria Wilbe², Johanna Dahlqvist¹, Dag Leonard³, Sergey Kozyrev¹, Gerli Pielberg¹, Maija-Leena Eloranta³, Lars Rönnblom³ and Kerstin Lindblad-Toh^1,4, ¹Department of Medical Biochemistry and Microbiology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden, ²Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden, ³Department of Medical Sciences, SciLife Lab, Rheumatology, Uppsala University, Uppsala, Sweden, Uppsala, Sweden, ⁴Broad Institute, Cambridge, MA
Background/Purpose: Systemic lupus erythematosus (SLE) is a complex autoimmune disease, believed to arise from environmental triggering events in genetically predisposed individuals. To date, more than…
Abstract Number: 87 • 2014 ACR/ARHP Annual Meeting
Association of TRIM21 (RO52) Polymorphisms with Systemic Lupus Erythematosus in a Japanese Population
Misaki Hidaka¹, Aya Kawasaki¹, Hiroshi Furukawa², Yuya Kondo³, Satoshi Ito⁴, Isao Matsumoto⁵, Makio Kusaoi⁶, Hirofumi Amano⁶, Akiko Suda⁷, Keigo Setoguchi⁸, Tatsuo Nagai⁹, Kota Shimada¹⁰, Shoji Sugii¹⁰, Akira Okamoto¹¹, Noriyuki Chiba¹², Eiichi Suematsu¹³, Masao Katayama¹⁴, Akiko Okamoto¹⁵, Hajime Kono¹⁵, Shigeru Ohno⁷, Shunsei Hirohata¹⁶, Shouhei Nagaoka¹⁷, Yoshinari Takasaki¹⁸, Hiroshi Hashimoto¹⁹, Shigeto Tohma², Takayuki Sumida³ and Naoyuki Tsuchiya¹, ¹Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ²Clinical Research Center for Allergy and Rheumatology, Sagamihara Hospital, National Hospital Organization, Sagamihara, Japan, ³Department of Internal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁴Department of Rheumatology, Niigata Rheumatic Center, Shibata, Japan, ⁵Department of Interenal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁶Department of Rheumatology and Internal Medicine, Juntendo University, Tokyo, Japan, ⁷Center for Rheumatic Diseases, Yokohama City University Medical Center, Yokohama, Japan, ⁸Allergy and Immunological Diseases, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan, ⁹Department of Rheumatology and Infectious Diseases, Kitasato University School of Medicine, Sagamihara, Japan, ¹⁰Department of Rheumatic Diseases, Tokyo Metropolitan Tama Medical Center, Tokyo, Japan, ¹¹Department of Rheumatology,, Himeji Medical Center, National Hospital Organization, Himeji, Japan, ¹²Department of Rheumatology, Morioka Hospital, National Hospital Organization, Morioka, Japan, ¹³Department of Internal Medicine and Rheumatology, Clinical Research Institute, Kyushu Medical Center, National Hospital Organization, Fukuoka, Japan, ¹⁴Division of Rheumatology, Department of Internal Medicine, Nagoya Medical Center, National Hospital Organization, Nagoya City, Aichi, Japan, ¹⁵Department of Internal Medicine, Teikyo University School of Medicine, Tokyo, Japan, ¹⁶Int Med/Rheumatol & Infec Dis, Kitasato University School of Medicine, Sagamihara, Japan, ¹⁷Department of Rheumatology, Yokohama Minami Kyousai Hospital, Yokohama, Japan, ¹⁸Department of Rheumatology, Juntendo University School of Medicine, Tokyo, Japan, ¹⁹Juntendo University School of Medicine, Tokyo, Japan
Background/Purpose TRIM21, also referred to as Ro52 or SS-A1, belongs to the tripartite motif-containing (TRIM) family. TRIM21 is not only important as an autoantigen, but…
Abstract Number: 167 • 2013 ACR/ARHP Annual Meeting
Association Of Functional Polymorphisms In IRF2 With Systemic Lupus Erythematosus In a Japanese Population
Aya Kawasaki¹, Hiroshi Furukawa², Nao Nishida³, Eiji Warabi⁴, Yuya Kondo⁵, Satoshi Ito⁶, Isao Matsumoto⁷, Makio Kusaoi⁸, Akiko Suda⁹, Shouhei Nagaoka¹⁰, Keigo Setoguchi¹¹, Tatsuo Nagai¹², Shunsei Hirohata¹³, Katsushi Tokunaga¹⁴, Yoshinari Takasaki¹⁵, Hiroshi Hashimoto¹⁶, Takayuki Sumida⁵, Shigeto Tohma² and Naoyuki Tsuchiya¹, ¹Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ²Clinical Research Center for Allergy and Rheumatology, Sagamihara Hospital, National Hospital Organization, Sagamihara, Japan, ³Research Center for Hepatitis and Immunology, National Center for Global Health and Medicine, Ichikawa, Japan, ⁴Environmental Molecular Biology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁵Department of Internal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, ⁶Niigata Rheumatic Center, Shibata, Japan, ⁷Department of Internal Medicine, Faculty of Medicine,, University of Tsukuba, Tsukuba, Japan, ⁸Department of Internal Medicine and Rheumatology, Juntendo University, Tokyo, Japan, ⁹Center for Rheumatic Diseases, Yokohama City University Medical Center, Yokohama, Japan, ¹⁰Department of Rheumatology, Yokohama Minami Kyousai Hospital, Yokohama, Japan, ¹¹Allergy and Immunological Diseases, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan, ¹²Rheumatology and Infectious Diseases, Kitasato University School of Medicine, Sagamihara, Japan, ¹³Int Med/Rheumatol & Infec Dis, Kitasato University School of Medicine, Sagamihara, Japan, ¹⁴Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, ¹⁵Department of Rheumatology, Juntendo University School of Medicine, Tokyo, Japan, ¹⁶Juntendo University School of Medicine, Tokyo, Japan
Background/Purpose: Interferon regulatory factor (IRF) families are transcription factors involved in type I interferon (IFN) pathway. Recent genetic studies identified association of IRF family genes,…
Abstract Number: 1629 • 2013 ACR/ARHP Annual Meeting
Functional Effect Of NR1H3 (LXRA) Promoter Polymorphisms In Korean Patients With Systemic Lupus Erythematosus
Ja-Young Jeon¹, Hyoun-Ah Kim¹, Ju-Yang Jung¹ and Chang-Hee Suh², ¹Department of Rheumatology, Ajou University School of Medicine, Suwon, South Korea, ²Department of Rheumatology, Ajou University Hospital, Suwon, South Korea
Background/Purpose: Liver X receptor alpha (LXRA, NR1H3) and beta (LXRB, NR1H2) can influence macrophage biology by modulation of lipid metabolism and by effects on innate…
Abstract Number: 2273 • 2012 ACR/ARHP Annual Meeting
Functional Genetic Polymorphisms in Immunoglobulin-Like Transcript 3 Are Associated with Decreased Surface Expression On Dendritic Cells and Increased Serum Cytokines in Lupus Patients
Mark A. Jensen, Karen C. Patterson, Akaash A. Kumar, Marissa Kumabe, Beverly S. Franek and Timothy B. Niewold, Section of Rheumatology and Gwen Knapp Center for Lupus and Immunology Research, University of Chicago, Chicago, IL
Background/Purpose: Hyperactivity of the type I interferon (IFN) pathway is involved in the pathogenesis of systemic lupus erythematosus (SLE). Immunoglobulin like transcript (ILT3) is an…
Abstract Number: 2275 • 2012 ACR/ARHP Annual Meeting
NR1H3 (LXR alpha) Gene Polymorphisms Are Associated with Systemic Lupus Erythematosus in Koreans
Ja-Young Jeon¹, Hyoun-Ah Kim¹ and Chang-Hee Suh², ¹Department of Rheumatology, Ajou University School of Medicine, Suwon, South Korea, ²Department of Rheumatology, Ajou University Hospital, Suwon, South Korea
Background/Purpose: Liver X receptorsare established sensors of lipid and cholesterol homeostasis. The recent studies have reported that LXRs are involved in regulation of inflammation and…
Abstract Number: 2278 • 2012 ACR/ARHP Annual Meeting
Single Nucleotide Polymorphisms (SNPs) of Integrin-á-M (ITGAM) Are Associated with Susceptibility to Systemic Lupus Erythematosus (SLE) in an Asian Lupus Cohort
Weng-Giap Law¹, Kok Ooi Kong², Bernard Pui Lam Leung¹, Chack-Yung Yu³, Yeong W. Song⁴, Yun Deng⁵, Hiok-Hee Chng², Betty P. Tsao⁶ and Hwee-Siew Howe⁷, ¹Rheumatology, Allergy & Immunology, Tan Tock Seng Hospital, Singapore, Singapore, ²Department of Rheumatology, Allergy and Immunology, Tan Tock Seng Hospital, Singapore, Singapore, ³Department of Pediatrics, 7Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital and The Ohio State University, Columbus, OH, ⁴Seoul National University, Seoul, South Korea, ⁵Division of Rheumatology, Department of Medicine, David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA, ⁶Medicine/Rheumatology, UCLA School of Medicine, Los Angeles, CA, ⁷Rheumatology, Allergy and Immunology, Tan Tock Seng Hospital, Singapore, Singapore
Background/Purpose: SLE is a systemic autoimmune disease where lupus nephritis (LN) is a major cause of morbidity and mortality. Integrin-a-M (ITGAM) is critical for the…
Abstract Number: 1613 • 2012 ACR/ARHP Annual Meeting
The SLE-Associated TLR7 Variant Confers Differential Gene Expression Modulated by Microrna-3148
Yun Deng¹, Jian Zhao¹, Daisuke Sakurai¹, Kenneth M. Kaufman², Jeffrey C. Edberg³, Robert P. Kimberly⁴, Diane L. Kamen⁵, Gary S. Gilkeson⁶, Chaim O. Jacob⁷, Robert H. Scofield⁸, Carl D. Langefeld⁹, Jennifer A. Kelly¹⁰, Marta E. Alarcün-Riquelme on behalf of BIOLUPUS and GENLES networks¹¹, John B. Harley², Timothy J. Vyse¹², Barry I. Freedman¹³, Patrick M. Gaffney¹⁴, Kathy Moser Sivils¹⁰, Judith A. James¹⁵, Timothy B. Niewold¹⁶, Rita M. Cantor¹⁷, Weiling Chen¹, Bevra H. Hahn¹⁸, Elizabeth E. Brown on behalf of PROFILE⁴ and Betty P. Tsao¹⁹, ¹Division of Rheumatology, Department of Medicine, David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA, ²Division of Rheumatology and The Center for Autoimmune Genomics & Etiology, Cincinnati Children's Hospital Medical Center; US Department of Veterans Affairs Medical Center, Cincinnati, OH, ³Division of Clinical Immunology and Rheumatology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, ⁴Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, ⁵Department of Medicine, Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Charleston, SC, ⁶Department of Medicine, Division of Rheumatology, Medical University of South Carolina, Charleston, SC, ⁷Division of Rheumatology, University of Southern California Keck School of Medicine, Los Angeles, CA, ⁸Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation; Department of Medicine, University of Oklahoma Health Sciences Center; US Department of Veterans Affairs Medical Center, Oklahoma City, OK, ⁹Center for Public Health Genomics and Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ¹⁰Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹¹Centro de Genómica e Investigación Oncológica (GENYO) Pfizer-Universidad de Granada-Junta de Andalucia, Granada, Spain, ¹²Medical & Molecular Genetics, King's College London, London, United Kingdom, ¹³Department of Internal Medicine, Wake Forest School of Medicine, Winston-Salem, NC, ¹⁴Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹⁵Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹⁶Division of Rheumatology and Department of Immunology, Mayo Clinic, Rochester, MN, ¹⁷Department of Human Genetics, University of California Los Angeles, Los Angeles, CA, ¹⁸Rheumatology, UCLA David Geffen School of Medicine, Los Angeles, CA, ¹⁹David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA
Background/Purpose: We established an X-linked TLR7 3’UTR SNP (rs3853839) as a risk locus for SLE in 9,274 Eastern Asians (Pcombined = 6.5×10-10). Risk-allele carriers have…
Abstract Number: 971 • 2012 ACR/ARHP Annual Meeting
Association of adam33 Polymorphisms with Systemic Lupus Erythematosus
Seung Cheol Shim¹, Mi Kyoung Lim¹, Donghyuk Sheen² and Hyo Park¹, ¹Medicine, Eulji University Hospital, Daejeon, South Korea, ²Rheumatology, Eulji University Hospital, Daejeon, South Korea
Background/Purpose: A Disintegrin and Metalloprotease 33 (ADAM33) is a member of a family of genes that encode membrane-anchored proteins with a disintegrin and a metalloprotease…
Abstract Number: 846 • 2012 ACR/ARHP Annual Meeting
Preferential Binding to Elk-1 by SLE-Associated IL10 Risk Allele up-Regulates IL10 Expression
Daisuke Sakurai¹, Jian Zhao¹, Yun Deng¹, Jennifer A. Kelly², Kathy Moser Sivils², Kenneth M. Kaufman³, Elizabeth E. Brown on behalf of PROFILE⁴, Marta E. Alarcón-Riquelme on behalf of BIOLUPUS and GENLES network⁵, John B. Harley⁶, Sang-Cheol Bae⁷, Chaim O. Jacob⁸, Timothy J. Vyse⁹, Timothy B. Niewold¹⁰, Patrick M. Gaffney¹¹, Judith A. James², Robert P. Kimberly¹², Gary S. Gilkeson¹³, Diane L. Kamen¹⁴, Carl D. Langefeld¹⁵, Deh-Ming Chang¹⁶, Yeong Wook Song¹⁷, Weiling Chen¹, Jennifer M. Grossman¹, Bevra H. Hahn¹⁸ and Betty P. Tsao¹, ¹Division of Rheumatology, Department of Medicine, David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA, ²Oklahoma Medical Research Foundation, Oklahoma City, OK, ³1Center for Autoimmune Genomics and Etiology and Rheumatology Division, Cincinnati Children’s Hospital Medical Center and the University of Cincinnati, Cincinnati, OH, ⁴University of Alabama at Birmingham, Birmingham, AL, ⁵Arthritis and Clinical Immunology, Centro de Genómica e Investigación Oncológica Pfizer-Universidad de Granada-Junta de Andalucía (GENYO), Granada, Spain and Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁶Division of Rheumatology and The Center for Autoimmune Genomics & Etiology, University of Cincinnati, Cincinnati Children's Hospital Medical Center; US Department of Veterans Affairs Medical Center, Cincinnati, OH, ⁷Hanyang University Hospital for Rheumatic Disease, Clinical Research Center for Rheumatoid Arthritis (CRCRA), Seoul, ⁸Department of Medicine,, Keck School of Medicine, University of Southern California, Los Angeles, CA, ⁹Divisions of Genetics and Molecular Medicine and Immunology,, King's College London, London, United Kingdom, ¹⁰Section of Rheumatology and Gwen Knapp Center for Lupus and Immunology Research, University of Chicago, Chicago, IL, ¹¹Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹²Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, ¹³Department of Medicine, Division of Rheumatology, Medical University of South Carolina, Charleston, SC, ¹⁴Department of Medicine, Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, Charleston, SC, ¹⁵Center for Public Health Genomics and Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ¹⁶Headquarter, National Defense Medical Center, Taipei, ¹⁷Division of Rheumatology, Department of Internal Medicine, Seoul National University, Seoul, South Korea, ¹⁸Rheumatology, UCLA David Geffen School of Medicine, Los Angeles, CA
Background/Purpose:The established association between IL10 and multiple autoimmune diseases including SLE and elevated levels of IL-10 in SLE patients correlating with disease activity led us to fine-map…

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