Sökning: WFRF:(Akkoc Nurullah) > Chung Sharon > Identification of s...
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000 | 12652naa a2201153 4500 | |
001 | oai:DiVA.org:uu-435153 | |
003 | SwePub | |
008 | 210224s2021 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4351532 URI |
024 | 7 | a https://doi.org/10.1016/j.ajhg.2020.11.0142 DOI |
040 | a (SwePub)uu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Ortiz-Fernandez, Lourdesu Univ Pittsburgh, Dept Pediat, Div Rheumatol, Pittsburgh, PA 15224 USA.4 aut |
245 | 1 0 | a Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study |
264 | 1 | a CAMBRIDGE, MA USA :b Cell Press,c 2021 |
338 | a print2 rdacarrier | |
520 | a Takayasu arteritis is a rare inflammatory disease of large arteries. We performed a genetic study in Takayasu arteritis comprising 6,670 individuals (1,226 affected individuals) from five different populations. We discovered HLA risk factors and four non-HLA susceptibility loci in VPS8, SVEP1, CFL2, and chr13q21 and reinforced IL12B, PTK2B, and chr21q22 as robust susceptibility loci shared across ancestries. Functional analysis proposed plausible underlying disease mechanisms and pinpointed ETS2 as a potential causal gene for chr21q22 association. We also identified >60 candidate loci with suggestive association (p < 5 x 10(-s)) and devised a genetic risk score for Takayasu arteritis. Takayasu arteritis was compared to hundreds of other traits, revealing the closest genetic relatedness to inflammatory bowel disease. Epigenetic patterns within risk loci suggest roles for monocytes and B cells in Takayasu arteritis. This work enhances understanding of the genetic basis and pathophysiology of Takayasu arteritis and provides clues for potential new therapeutic targets. | |
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 |
653 | a GENETIC RISK; DISEASE; LEFLUNOMIDE; PSORIASIS; INTEGRIN; PROTEIN; CLASSIFICATION; ACTIVATION; CRITERIA; POLYDOM | |
700 | 1 | a Saruhan-Direskeneli, Guheru Istanbul Univ, Istanbul Fac Med, Dept Physiol, TR-34093 Istanbul, Turkey.4 aut |
700 | 1 | a Alibaz-Oner, Fatmau Marmara Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-34890 Istanbul, Turkey.4 aut |
700 | 1 | a Kaymaz-Tahra, Semau Marmara Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-34890 Istanbul, Turkey.4 aut |
700 | 1 | a Coit, Patricku Univ Pittsburgh, Dept Pediat, Div Rheumatol, Pittsburgh, PA 15224 USA.;Univ Michigan, Grad Program Immunol, Ann Arbor, MI 48109 USA.4 aut |
700 | 1 | a Kong, Xiufangu Fudan Univ, Zhongshan Hosp, Dept Rheumatol, Shanghai 200032, Peoples R China.4 aut |
700 | 1 | a Kiprianos, Allan P.u Imperial Coll London, Natl Heart & Lung Inst, London SW3 6LY, England.4 aut |
700 | 1 | a Maughan, Robert T.u Imperial Coll London, Natl Heart & Lung Inst, London SW3 6LY, England.4 aut |
700 | 1 | a Aydin, Sibel Z.u Marmara Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-34890 Istanbul, Turkey.;Univ Ottawa, Ottawa Hosp Res Inst, Fac Med, Div Rheumatol, Ottawa, ON K1Y 4E9, Canada.4 aut |
700 | 1 | a Aksu, Kenanu Ege Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-35100 Izmir, Turkey.4 aut |
700 | 1 | a Keser, Gokhanu Ege Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-35100 Izmir, Turkey.4 aut |
700 | 1 | a Kamali, Sevilu Istanbul Univ, Istanbul Fac Med, Dept Internal Med, Div Rheumatol, TR-34903 Istanbul, Turkey.4 aut |
700 | 1 | a Inanc, Muratu Istanbul Univ, Istanbul Fac Med, Dept Internal Med, Div Rheumatol, TR-34903 Istanbul, Turkey.4 aut |
700 | 1 | a Springer, Jasonu Univ Kansas, Dept Med, Div Allergy Clin Immunol & Rheumatol, Med Ctr, Kansas City, KS 66160 USA.4 aut |
700 | 1 | a Akar, Servetu Katip Celebi Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-35620 Izmir, Turkey.;Dokuz Eylul Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-35340 Izmir, Turkey.4 aut |
700 | 1 | a Onen, Fatosu Dokuz Eylul Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-35340 Izmir, Turkey.4 aut |
700 | 1 | a Akkoc, Nurullahu Dokuz Eylul Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-35340 Izmir, Turkey.;Celal Bayar Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-45140 Manisa, Turkey.4 aut |
700 | 1 | a Khalidi, Nader A.u McMaster Univ, Div Rheumatol, St Josephs Healthcare, Hamilton, ON L8N 1Y2, Canada.4 aut |
700 | 1 | a Koening, Curryu Univ Utah, Div Rheumatol, Salt Lake City, UT 84132 USA.4 aut |
700 | 1 | a Karadag, Omeru Hacettepe Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-06100 Ankara, Turkey.4 aut |
700 | 1 | a Kiraz, Sedatu Hacettepe Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-06100 Ankara, Turkey.4 aut |
700 | 1 | a Forbess, Lindsyu Cedars Sinai Med Ctr, Dept Med, Div Rheumatol, Los Angeles, CA 90048 USA.4 aut |
700 | 1 | a Langford, Carol A.u Cleveland Clin, Dept Rheumatol, Cleveland, OH 44195 USA.4 aut |
700 | 1 | a McAlear, Carol A.u Univ Penn, Div Rheumatol, Philadelphia, PA 19104 USA.4 aut |
700 | 1 | a Ozbalkan, Zeynepu Hitit Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-19200 Corum, Turkey.;Ankara Numune Training & Res Hosp, Dept Internal Med, Div Rheumatol, TR-06100 Ankara, Turkey.4 aut |
700 | 1 | a Yavuz, Suleu Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)sulya191 |
700 | 1 | a Cetin, Gozde Yildirimu Sutcu Imam Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-46050 Kahramanmaras, Turkey.4 aut |
700 | 1 | a Alpay-Kanitez, Niluferu Koc Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-34450 Istanbul, Turkey.4 aut |
700 | 1 | a Chung, Sharonu Univ Calif San Francisco, Russell Engleman Rheumatol Res Ctr, Dept Med, San Francisco, CA 94143 USA.4 aut |
700 | 1 | a Ates, Askinu Ankara Numune Training & Res Hosp, Dept Internal Med, Div Rheumatol, TR-06100 Ankara, Turkey.;Ankara Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-06100 Ankara, Turkey.4 aut |
700 | 1 | a Karaaslan, Yasaru Ankara Numune Training & Res Hosp, Dept Internal Med, Div Rheumatol, TR-06100 Ankara, Turkey.4 aut |
700 | 1 | a McKinnon-Maksimowicz, Kathleenu Univ Pittsburgh, Dept Med, Div Rheumatol & Clin Immunol, Pittsburgh, PA 15261 USA.;Henry Ford Hlth Syst, Div Rheumatol, Detroit, MI 48202 USA.4 aut |
700 | 1 | a Monach, Paul A.u Boston Univ, Sect Rheumatol, Sch Med, Boston, MA 02118 USA.4 aut |
700 | 1 | a Ozer, Huseyin T. E.u Cukurova Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-01330 Adana, Turkey.4 aut |
700 | 1 | a Seyahi, Emireu Istanbul Univ Cerrahpasa, Fac Med, Dept Internal Med, Div Rheumatol, TR-34098 Istanbul, Turkey.4 aut |
700 | 1 | a Fresko, Izzetu Istanbul Univ Cerrahpasa, Fac Med, Dept Internal Med, Div Rheumatol, TR-34098 Istanbul, Turkey.4 aut |
700 | 1 | a Cefle, Ayseu Kocaeli Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-41380 Kocaeli, Turkey.4 aut |
700 | 1 | a Seo, Philipu Johns Hopkins Univ, Div Rheumatol, Baltimore, MD 21224 USA.4 aut |
700 | 1 | a Warrington, Kenneth J.u Mayo Clin, Div Rheumatol, Coll Med, Rochester, MN 55905 USA.4 aut |
700 | 1 | a Ozturk, Mehmet A.u Gazi Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-06500 Ankara, Turkey.4 aut |
700 | 1 | a Ytterberg, Steven R.u Mayo Clin, Div Rheumatol, Coll Med, Rochester, MN 55905 USA.4 aut |
700 | 1 | a Cobankara, Veliu Pamukkale Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-20160 Denizli, Turkey.4 aut |
700 | 1 | a Onat, Ahmet Mesutu Gaziantep Med Pk Hosp, Div Rheumatol, TR-27060 Gaziantep, Turkey.;Gaziantep Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-27310 Gaziantep, Turkey.4 aut |
700 | 1 | a Duzgun, Nursenu Ankara Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-06100 Ankara, Turkey.4 aut |
700 | 1 | a Bicakcigil, Mugeu Yeditepe Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-34752 Istanbul, Turkey.4 aut |
700 | 1 | a Yentur, Sibel P.u Istanbul Univ, Istanbul Fac Med, Dept Physiol, TR-34093 Istanbul, Turkey.4 aut |
700 | 1 | a Lally, Lindsayu Hosp Special Surg, Dept Med, Div Rheumatol, New York, NY 10021 USA.4 aut |
700 | 1 | a Manfredi, Angelo A.u Osped San Raffaele, Div Immunol Transplantat & Infect Dis, I-20132 Milan, Italy.4 aut |
700 | 1 | a Baldissera, Elenau Osped San Raffaele, Div Immunol Transplantat & Infect Dis, I-20132 Milan, Italy.4 aut |
700 | 1 | a Erken, Erenu Cukurova Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-01330 Adana, Turkey.4 aut |
700 | 1 | a Yazici, Aytenu Kocaeli Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-41380 Kocaeli, Turkey.4 aut |
700 | 1 | a Kisacik, Bunyaminu Gaziantep Med Pk Hosp, Div Rheumatol, TR-27060 Gaziantep, Turkey.;Gaziantep Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-27310 Gaziantep, Turkey.4 aut |
700 | 1 | a Kasifoglu, Timucinu Osmangazi Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-26030 Eskisehir, Turkey.4 aut |
700 | 1 | a Dalkilic, Edizu Uludag Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-16059 Bursa, Turkey.4 aut |
700 | 1 | a Cuthbertson, Davidu Univ S Florida, Dept Biostat, Tampa, FL 33612 USA.4 aut |
700 | 1 | a Pagnoux, Christianu Mt Sinai Hosp, Div Rheumatol, Toronto, ON M5L 3L9, Canada.4 aut |
700 | 1 | a Sreih, Antoineu Univ Penn, Div Rheumatol, Philadelphia, PA 19104 USA.4 aut |
700 | 1 | a Reales, Guillermou Univ Cambridge, Jeffrey Cheah Biomed Ctr, Cambridge Inst Therapeut Immunol & Infect Dis, Cambridge Biomed Campus,Puddicombe Way, Cambridge CB2 0AW, England.;Univ Cambridge, Dept Med, Sch Clin Med, Cambridge Biomed Campus, Cambridge CB2 0QQ, England.4 aut |
700 | 1 | a Wallace, Chrisu Univ Cambridge, Jeffrey Cheah Biomed Ctr, Cambridge Inst Therapeut Immunol & Infect Dis, Cambridge Biomed Campus,Puddicombe Way, Cambridge CB2 0AW, England.;Univ Cambridge, Dept Med, Sch Clin Med, Cambridge Biomed Campus, Cambridge CB2 0QQ, England.;Univ Cambridge, Cambridge Inst Publ Hlth, MRC Biostat Unit, Forvie Site,Robinson Way,Cambridge Biomed Campus, Cambridge CB2 0SR, England.4 aut |
700 | 1 | a Wren, Jonathan D.u Oklahoma Med Res Fdn, Genes & Human Dis Res Program, Oklahoma City, OK 73104 USA.;Univ Oklahoma, Dept Biochem & Mol Biol, Hlth Sci Ctr, Oklahoma City, OK 73104 USA.4 aut |
700 | 1 | a Cunninghame-Graham, Deborah S.u Kings Coll London, Dept Med & Mol Genet, London WC2R 2LS, England.4 aut |
700 | 1 | a Vyse, Timothy J.u Kings Coll London, Dept Med & Mol Genet, London WC2R 2LS, England.4 aut |
700 | 1 | a Sun, Yingu Fudan Univ, Zhongshan Hosp, Dept Rheumatol, Shanghai 200032, Peoples R China.4 aut |
700 | 1 | a Chen, Huiyongu Fudan Univ, Zhongshan Hosp, Dept Rheumatol, Shanghai 200032, Peoples R China.4 aut |
700 | 1 | a Grayson, Peter C.u NIAMS, Syst Autoimmun Branch, NIH, Bethesda, MD 20892 USA.4 aut |
700 | 1 | a Tombetti, Enricou Osped San Raffaele, Div Immunol Transplantat & Infect Dis, I-20132 Milan, Italy.;Milan Univ, Dept Biomed & Clin Sci L Sacco, I-20157 Milan, Italy.4 aut |
700 | 1 | a Jiang, Lindiu Fudan Univ, Zhongshan Hosp, Dept Rheumatol, Shanghai 200032, Peoples R China.;Fudan Univ, Evidence Based Med Ctr, Shanghai 200032, Peoples R China.4 aut |
700 | 1 | a Mason, Justin C.u Imperial Coll London, Natl Heart & Lung Inst, London SW3 6LY, England.4 aut |
700 | 1 | a Merkel, Peter A.u Univ Penn, Div Rheumatol, Philadelphia, PA 19104 USA.;Univ Penn, Dept Biostat Epidemiol & Informat, Philadelphia, PA 19104 USA.4 aut |
700 | 1 | a Direskeneli, Haneru Marmara Univ, Fac Med, Dept Internal Med, Div Rheumatol, TR-34890 Istanbul, Turkey.4 aut |
700 | 1 | a Sawalha, Amr H.u Univ Pittsburgh, Dept Pediat, Div Rheumatol, Pittsburgh, PA 15224 USA.;Univ Pittsburgh, Dept Med, Div Rheumatol & Clin Immunol, Pittsburgh, PA 15261 USA.;Univ Pittsburgh, Lupus Ctr Excellence, Sch Med, Pittsburgh, PA 15213 USA.;Univ Pittsburgh, Dept Immunol, Pittsburgh, PA 15213 USA.4 aut |
710 | 2 | a Univ Pittsburgh, Dept Pediat, Div Rheumatol, Pittsburgh, PA 15224 USA.b Istanbul Univ, Istanbul Fac Med, Dept Physiol, TR-34093 Istanbul, Turkey.4 org |
773 | 0 | t American Journal of Human Geneticsd CAMBRIDGE, MA USA : Cell Pressg 108:1, s. 84-99q 108:1<84-99x 0002-9297x 1537-6605 |
856 | 4 | u https://doi.org/10.1016/j.ajhg.2020.11.014y Fulltext |
856 | 4 | u http://www.cell.com/article/S0002929720304110/pdf |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-435153 |
856 | 4 8 | u https://doi.org/10.1016/j.ajhg.2020.11.014 |
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