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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 17118naa a2201393 4500 | |
| 001 | oai:DiVA.org:liu-113873 | |
| 003 | SwePub | |
| 008 | 150202s2015 | |||||||||||000 ||eng| | |
| 009 | oai:DiVA.org:uu-234553 | |
| 009 | oai:prod.swepub.kib.ki.se:130808618 | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-1138732 URI |
| 024 | 7 | a https://doi.org/10.1093/hmg/ddu4552 DOI |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2345532 URI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1308086182 URI |
| 040 | a (SwePub)liud (SwePub)uud (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Kottyan, Leah C.u Division of Rheumatology, Center for Autoimmune Genomics and Etiology and US Department of Veterans Affairs Medical Center, Cincinnati, OH, USA,Liver Centre, Toronto Western Hospital, Toronto, ON, Canada.4 aut |
| 245 | 1 0 | a The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share. |
| 264 | c 2014-09-08 | |
| 264 | 1 | b Oxford University Press (OUP),c 2015 |
| 338 | a print2 rdacarrier | |
| 520 | a Exploiting genotyping, DNA sequencing, imputation and trans-ancestral mapping, we used Bayesian and frequentist approaches to model the IRF5-TNPO3 locus association, now implicated in two immunotherapies and seven autoimmune diseases. Specifically, in systemic lupus erythematosus (SLE), we resolved separate associations in the IRF5 promoter (all ancestries) and with an extended European haplotype. We captured 3230 IRF5-TNPO3 high-quality, common variants across 5 ethnicities in 8395 SLE cases and 7367 controls. The genetic effect from the IRF5 promoter can be explained by any one of four variants in 5.7 kb (P-valuemeta = 6 × 10(-49); OR = 1.38-1.97). The second genetic effect spanned an 85.5-kb, 24-variant haplotype that included the genes IRF5 and TNPO3 (P-valuesEU = 10(-27)-10(-32), OR = 1.7-1.81). Many variants at the IRF5 locus with previously assigned biological function are not members of either final credible set of potential causal variants identified herein. In addition to the known biologically functional variants, we demonstrated that the risk allele of rs4728142, a variant in the promoter among the lowest frequentist probability and highest Bayesian posterior probability, was correlated with IRF5 expression and differentially binds the transcription factor ZBTB3. Our analytical strategy provides a novel framework for future studies aimed at dissecting etiological genetic effects. Finally, both SLE elements of the statistical model appear to operate in Sjögrens syndrome and systemic sclerosis whereas only the IRF5-TNPO3 gene-spanning haplotype is associated with primary biliary cirrhosis, demonstrating the nuance of similarity and difference in autoimmune disease risk mechanisms at IRF5-TNPO3. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Immunologi inom det medicinska området0 (SwePub)301102 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Immunology in the medical area0 (SwePub)301102 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Reumatologi och inflammation0 (SwePub)302102 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Rheumatology and Autoimmunity0 (SwePub)302102 hsv//eng |
| 700 | 1 | a Zoller, Erin E.u Division of Rheumatology, Center for Autoimmune Genomics and Etiology4 aut |
| 700 | 1 | a Bene, Jessicau Division of Rheumatology, Center for Autoimmune Genomics and Etiology4 aut |
| 700 | 1 | a Lu, Xiaomingu Division of Rheumatology, Center for Autoimmune Genomics and Etiology4 aut |
| 700 | 1 | a Kelly, Jennifer A.u Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.4 aut |
| 700 | 1 | a Rupert, Andrew M.u Division of Biomedical Informatics, Cincinnati Childrens Hospital Medical Center, Cincinnati, OH, USA.,Department of Biostatistical Sciences and Center for Public Health Genomics4 aut |
| 700 | 1 | a Lessard, Christopher J.u Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA Department of Pathology4 aut |
| 700 | 1 | a Vaughn, Samuel E.u Division of Rheumatology, Center for Autoimmune Genomics and Etiology4 aut |
| 700 | 1 | a Marion, Mirandau Karolinska Institutet,NIHR Biomedical Research Unit, University of Birmingham, Birmingham, UK.,Division of Rheumatology, University of Minnesota Medical School, Minneapolis, MN, USA.,Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.,University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico, USA.,University of Washington and Seattle Childrens Hospital, Seattle, WA, USA.,Division of Rheumatology, Center for Autoimmune Genomics and Etiology and US Department of Veterans Affairs Medical Center, Cincinnati, OH, USA.4 aut |
| 700 | 1 | a Weirauch, Matthew T.u Division of Rheumatology, Center for Autoimmune Genomics and Etiology and US Department of Veterans Affairs Medical Center, Cincinnati, OH, USA Division of Biomedical Informatics, Cincinnati Childrens Hospital Medical Center, Cincinnati, OH, USA.4 aut |
| 700 | 1 | a Namjou, Bahramu Division of Rheumatology, Center for Autoimmune Genomics and Etiology4 aut |
| 700 | 1 | a Adler, Adamu Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.,Valley Bone and Joint Clinic, Grand Forks, ND, USA.,Division of Rheumatology, University of Colorado School of Medicine, Aurora, CO, USA.,Division of Rheumatology, Rosalind Russell Medical Research Center for Arthritis, University of California San Francisco, San Francisco, CA, USA.4 aut |
| 700 | 1 | a Rasmussen, Astridu Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.4 aut |
| 700 | 1 | a Glenn, Stuartu Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.4 aut |
| 700 | 1 | a Montgomery, Courtney G.u Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.,Division of Rheumatology and Immunology, Medical University of South Carolina, Charleston, SC, USA.4 aut |
| 700 | 1 | a Hirschfield, Gideon M.u NIHR Biomedical Research Unit, University of Birmingham, Birmingham, UK.4 aut |
| 700 | 1 | a Xie, Gangu Mount Sinai Hospital Samuel Lunenfeld Research Institute, Toronto, ON, Canada.4 aut |
| 700 | 1 | a Coltescu, Catalinau Liver Centre, Toronto Western Hospital, Toronto, ON, Canada.4 aut |
| 700 | 1 | a Amos, Chrisu Department of Community and Family Medicine, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA.4 aut |
| 700 | 1 | a Li, Heu Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA Department of Pathology and.4 aut |
| 700 | 1 | a Ice, John A.u Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.4 aut |
| 700 | 1 | a Nath, Swapan K.u Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.4 aut |
| 700 | 1 | a Mariette, Xavieru Department of Rheumatology, Hôpitaux Universitaires Paris-Sud, INSERM U1012, Le Kremlin Bicêtre, France.4 aut |
| 700 | 1 | a Bowman, Simonu Rheumatology Department, University Hospital Birmingham, Birmingham, UK.4 aut |
| 700 | 1 | a Rischmueller, Maureenu The Queen Elizabeth Hospital, Adelaide, Australia.4 aut |
| 700 | 1 | a Lester, Sueu The Queen Elizabeth Hospital, Adelaide, Australia The University of Adelaide, Adelaide, Australia.4 aut |
| 700 | 1 | a Brun, Johan G.u Institute of Internal Medicine, University of Bergen, Bergen, Norway Department of Rheumatology, Haukeland University Hospital, Bergen, Norway.4 aut |
| 700 | 1 | a Gøransson, Lasse G.u Clinical Immunology Unit, Department of Internal Medicine, Stavanger University Hospital, Stavanger, Norway.4 aut |
| 700 | 1 | a Harboe, Ernau Clinical Immunology Unit, Department of Internal Medicine, Stavanger University Hospital, Stavanger, Norway.4 aut |
| 700 | 1 | a Omdal, Roaldu Clinical Immunology Unit, Department of Internal Medicine, Stavanger University Hospital, Stavanger, Norway.4 aut |
| 700 | 1 | a Cunninghame-Graham, Deborah S.u Department of Medical and Molecular Genetics, Kings College London, London, UK.4 aut |
| 700 | 1 | a Vyse, Timu Department of Medical and Molecular Genetics, Kings College London, London, UK.4 aut |
| 700 | 1 | a Miceli-Richard, Corinneu Department of Rheumatology, Hôpitaux Universitaires Paris-Sud, INSERM U1012, Le Kremlin Bicêtre, France.4 aut |
| 700 | 1 | a Brennan, Michael T.u Department of Oral Medicine, Carolinas Medical Center, Charlotte, NC, USA.4 aut |
| 700 | 1 | a Lessard, James A.u Valley Bone and Joint Clinic, Grand Forks, ND, USA.4 aut |
| 700 | 1 | a Wahren-Herlenius, Marieu Department of Medicine, Karolinska Institute, Stockholm, Sweden.4 aut |
| 700 | 1 | a Kvarnström, Marikau Department of Medicine, Karolinska Institute, Stockholm, Sweden.4 aut |
| 700 | 1 | a Illei, Gabor G.u National Institute of Dental and Craniofacial Research, NIH, Bethesda, MD, USA.4 aut |
| 700 | 1 | a Witte, Torstenu Hannover Medical School, Hanover, Germany.4 aut |
| 700 | 1 | a Jonsson, Rolandu Department of Rheumatology, Haukeland University Hospital, Bergen, Norway Broegelmann Research Laboratory, The Gade Institute, University of Bergen, Bergen, Norway.4 aut |
| 700 | 1 | a Eriksson, Per,d 1958-u Linköpings universitet,Avdelningen för neuro- och inflammationsvetenskap,Medicinska fakulteten,Avdelningen för inflammation och infektion,Region Östergötland, Reumatologiska kliniken i Östergötland,Region Östergötland, Reumatologiska kliniken i Östergötland4 aut0 (Swepub:liu)perer22 |
| 700 | 1 | a Nordmark, Gunnelu Uppsala universitet,Reumatologi,Department of Medical Sciences, Rheumatology, Uppsala University, Uppsala, Sweden.4 aut0 (Swepub:uu)gunnnord |
| 700 | 1 | a Ng, Wan-Faiu Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK.4 aut |
| 700 | 1 | a Anaya, Juan-Manuelu Center for Autoimmune Diseases Research (CREA), Universidad del Rosario, Bogotá, Colombia.4 aut |
| 700 | 1 | a Rhodus, Nelson N.u Department of Oral Surgery, University of Minnesota School of Dentistry, Minneapolis, MN, USA.4 aut |
| 700 | 1 | a Segal, Barbara M.u Division of Rheumatology, University of Minnesota Medical School, Minneapolis, MN, USA.4 aut |
| 700 | 1 | a Merrill, Joan T.u Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.4 aut |
| 700 | 1 | a James, Judith A.u Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.4 aut |
| 700 | 1 | a Guthridge, Joel M.u Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.4 aut |
| 700 | 1 | a Hal Scofield, Ru Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA Division of Veterans Affairs Medical Center, Oklahoma City, OK, USA Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.4 aut |
| 700 | 1 | a Alarcon-Riquelme, Martau Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA de Genómica e Investigación Oncológica (GENYO), Pfizer-Universidad de Granada-Junta de Andalucia, Granada, Spain.4 aut |
| 700 | 1 | a Bae, Sang-Cheolu Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, South Korea.4 aut |
| 700 | 1 | a Boackle, Susan A.u Division of Rheumatology, University of Colorado School of Medicine, Aurora, CO, USA.4 aut |
| 700 | 1 | a Criswell, Lindsey A.u Division of Rheumatology, Rosalind Russell Medical Research Center for Arthritis, University of California San Francisco, San Francisco, CA, USA.4 aut |
| 700 | 1 | a Gilkeson, Garyu Division of Rheumatology and Immunology, Medical University of South Carolina, Charleston, SC, USA.4 aut |
| 700 | 1 | a Kamen, Diane Lu Division of Rheumatology and Immunology, Medical University of South Carolina, Charleston, SC, USA.4 aut |
| 700 | 1 | a Jacob, Chaim O.u Divison of Gastrointestinal and Liver Diseases, Molecular Microbiology and Immunology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.4 aut |
| 700 | 1 | a Kimberly, Robertu Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.4 aut |
| 700 | 1 | a Brown, Elizabethu Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.4 aut |
| 700 | 1 | a Edberg, Jeffreyu Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.4 aut |
| 700 | 1 | a Alarcón, Graciela S.u Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.4 aut |
| 700 | 1 | a Reveille, John D.u Division of Rheumatology and Clinical Immunogenetics, The Univeristy of Texas Health Science Center at Houston, Houston, TX, USA.4 aut |
| 700 | 1 | a Vilá, Luis M.u University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico, USA.4 aut |
| 700 | 1 | a Petri, Michelleu Division of Rheumatology, Johns Hopkins, Baltimore, MD, USA.4 aut |
| 700 | 1 | a Ramsey-Goldman, Rosalindu Division of Rheumatology, Northwestern University, Chicago, IL, USA.4 aut |
| 700 | 1 | a Freedman, Barry I.u Wake Forest School of Medicine, Winston-Salem, NC, USA.4 aut |
| 700 | 1 | a Niewold, Timothyu Division of Rheumatology and Immunology, Mayo Clinic, Rochester, MN, USA.4 aut |
| 700 | 1 | a Stevens, Anne M.u University of Washington and Seattle Childrens Hospital, Seattle, WA, USA.4 aut |
| 700 | 1 | a Tsao, Betty P.u David Geffen School of Medicine, University of California, Los Angeles, CA, USA.4 aut |
| 700 | 1 | a Ying, Junu MD Anderson Cancer Center, University of Texas, Houston, TX, USA.4 aut |
| 700 | 1 | a Mayes, Maureen D.u MD Anderson Cancer Center, University of Texas, Houston, TX, USA.4 aut |
| 700 | 1 | a Gorlova, Olga Y.u MD Anderson Cancer Center, University of Texas, Houston, TX, USA.4 aut |
| 700 | 1 | a Wakeland, Wardu University of Texas Southwestern Medical School, Dallas, TX, USA.4 aut |
| 700 | 1 | a Radstake, Timothyu Department of Rheumatology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.4 aut |
| 700 | 1 | a Martin, Ezequielu Instituto de Parasitología y Biomedicina López Neyra Avda, Granada, Spain and.4 aut |
| 700 | 1 | a Martin, Javieru Instituto de Parasitología y Biomedicina López Neyra Avda, Granada, Spain and.4 aut |
| 700 | 1 | a Siminovitch, Katherineu Mount Sinai Hospital Samuel Lunenfeld Research Institute, Toronto, ON, Canada Department of Medicine, University of Toronto, Toronto, ON, Canada.4 aut |
| 700 | 1 | a Moser Sivils, Kathy L.u Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.4 aut |
| 700 | 1 | a Gaffney, Patrick M.u Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.4 aut |
| 700 | 1 | a Langefeld, Carl D.u Department of Biostatistical Sciences and Center for Public Health Genomics and.4 aut |
| 700 | 1 | a Harley, John B.u Division of Rheumatology, Center for Autoimmune Genomics and Etiology and US Department of Veterans Affairs Medical Center, Cincinnati, OH, USA.4 aut |
| 700 | 1 | a Kaufman, Kenneth M.u Division of Rheumatology, Center for Autoimmune Genomics and Etiology and US Department of Veterans Affairs Medical Center, Cincinnati, OH, USA.4 aut |
| 710 | 2 | a Division of Rheumatology, Center for Autoimmune Genomics and Etiology and US Department of Veterans Affairs Medical Center, Cincinnati, OH, USAb Liver Centre, Toronto Western Hospital, Toronto, ON, Canada.4 org |
| 773 | 0 | t Human Molecular Geneticsd : Oxford University Press (OUP)g 24:2, s. 582-596q 24:2<582-596x 0964-6906x 1460-2083 |
| 856 | 4 | u https://academic.oup.com/hmg/article-pdf/24/2/582/17262496/ddu455.pdf |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-113873 |
| 856 | 4 8 | u https://doi.org/10.1093/hmg/ddu455 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-234553 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:130808618 |
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