Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study

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Fältnamn	Indikatorer	Metadata
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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Av författaren/redakt...: Ortiz-Fernandez, ...; Saruhan-Diresken ...; Alibaz-Oner, Fat ...; Kaymaz-Tahra, Se ...; Coit, Patrick; Kong, Xiufang; visa fler...; Kiprianos, Allan ...; Maughan, Robert ...; Aydin, Sibel Z.; Aksu, Kenan; Keser, Gokhan; Kamali, Sevil; Inanc, Murat; Springer, Jason; Akar, Servet; Onen, Fatos; Akkoc, Nurullah; Khalidi, Nader A ...; Koening, Curry; Karadag, Omer; Kiraz, Sedat; Forbess, Lindsy; Langford, Carol ...; McAlear, Carol A ...; Ozbalkan, Zeynep; Yavuz, Sule; Cetin, Gozde Yil ...; Alpay-Kanitez, N ...; Chung, Sharon; Ates, Askin; Karaaslan, Yasar; McKinnon-Maksimo ...; Monach, Paul A.; Ozer, Huseyin T. ...; Seyahi, Emire; Fresko, Izzet; Cefle, Ayse; Seo, Philip; Warrington, Kenn ...; Ozturk, Mehmet A ...; Ytterberg, Steve ...; Cobankara, Veli; Onat, Ahmet Mesu ...; Duzgun, Nursen; Bicakcigil, Muge; Yentur, Sibel P.; Lally, Lindsay; Manfredi, Angelo ...; Baldissera, Elen ...; Erken, Eren; Yazici, Ayten; Kisacik, Bunyami ...; Kasifoglu, Timuc ...; Dalkilic, Ediz; Cuthbertson, Dav ...; Pagnoux, Christi ...; Sreih, Antoine; Reales, Guillerm ...; Wallace, Chris; Wren, Jonathan D ...; Cunninghame-Grah ...; Vyse, Timothy J.; Sun, Ying; Chen, Huiyong; Grayson, Peter C ...; Tombetti, Enrico; Jiang, Lindi; Mason, Justin C.; Merkel, Peter A.; Direskeneli, Han ...; Sawalha, Amr H.; visa färre...

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