dc.contributor.author | Saruhan-Direskeneli, Guher | |
dc.contributor.author | Hughes, Travis | |
dc.contributor.author | Aksu, Kenan | |
dc.contributor.author | Keser, Gokhan | |
dc.contributor.author | Coit, Patrick | |
dc.contributor.author | Aydin, Sibel Z. | |
dc.contributor.author | Alibaz-Oner, Fatma | |
dc.contributor.author | Kamali, Sevil | |
dc.contributor.author | Inanc, Murat | |
dc.contributor.author | Carette, Simon | |
dc.contributor.author | Hoffman, Gary S. | |
dc.contributor.author | Akar, Servet | |
dc.contributor.author | Onen, Fatos | |
dc.contributor.author | Akkoc, Nurullah | |
dc.contributor.author | Khalidi, Nader A. | |
dc.contributor.author | Koening, Curry | |
dc.contributor.author | Karadag, Omer | |
dc.contributor.author | Kiraz, Sedat | |
dc.contributor.author | Langford, Carol A. | |
dc.contributor.author | McAlear, Carol A. | |
dc.contributor.author | Ozbalkan, Zeynep | |
dc.contributor.author | Ates, Askin | |
dc.contributor.author | Karaaslan, Yasar | |
dc.contributor.author | Maksimowicz-McKinnon, Kathleen | |
dc.contributor.author | Monach, Paul A. | |
dc.contributor.author | Ozer, Huseyin T. | |
dc.contributor.author | Seyahi, Emire | |
dc.contributor.author | Fresko, Izzet | |
dc.contributor.author | Cefle, Ayse | |
dc.contributor.author | Seo, Philip | |
dc.contributor.author | Warrington, Kenneth J. | |
dc.contributor.author | Ozturk, Mehmet A. | |
dc.contributor.author | Ytterberg, Steven R. | |
dc.contributor.author | Cobankara, Veli | |
dc.contributor.author | Onat, A. Mesut | |
dc.contributor.author | Guthridge, Joel M. | |
dc.contributor.author | James, Judith A. | |
dc.contributor.author | Tunc, Ercan | |
dc.contributor.author | Duzgun, Nursen | |
dc.contributor.author | Bicakcigil, Muge | |
dc.contributor.author | Yentur, Sibel P. | |
dc.contributor.author | Merkel, Peter A. | |
dc.contributor.author | Direskeneli, Haner | |
dc.contributor.author | Sawalha, Amr H. | |
dc.date.accessioned | 2019-12-10T11:13:57Z | |
dc.date.available | 2019-12-10T11:13:57Z | |
dc.date.issued | 2013 | |
dc.identifier.issn | 0002-9297 | |
dc.identifier.uri | https://doi.org/10.1016/j.ajhg.2013.05.026 | |
dc.identifier.uri | http://hdl.handle.net/11655/15117 | |
dc.description.abstract | Takayasu arteritis is a rare inflammatory disease of large arteries. The etiology of Takayasu arteritis remains poorly understood, but genetic contribution to the disease pathogenesis is supported by the genetic association with HLA-B*52. We genotyped similar to 200,000 genetic variants in two ethnically divergent Takayasu arteritis cohorts from Turkey and North America by using a custom-designed genotyping platform (Immunochip). Additional genetic variants and the classical HLA alleles were imputed and analyzed. We identified and confirmed two independent susceptibility loci within the HLA region (r(2) < 0.2): HLA-B/MICA (rs12524487, OR = 3.29, p = 5.57 x 10(-16)) and HLA-DQB1/HLA-DRB1 (rs113452171, OR = 2.34, p = 3.74 x 10(-9); and rs189754752, OR = 2.47, p = 4.22 x 10(-9)). In addition, we identified and confirmed a genetic association between Takayasu arteritis and the FCGR2A/FCGR3A locus on chromosome 1 (rs10919543, OR = 1.81, p = 5.89 x 10(-12)). The risk allele in this locus results in increased mRNA expression of FCGR2A. We also established the genetic association between IL12B and Takayasu arteritis (rs56167332, OR = 1.54, p = 2.18 x 10(-8)). | |
dc.language.iso | en | |
dc.publisher | Cell Press | |
dc.relation.isversionof | 10.1016/j.ajhg.2013.05.026 | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.subject | Genetics & Heredity | |
dc.title | Identification Of Multiple Genetic Susceptibility Loci In Takayasu Arteritis | |
dc.type | info:eu-repo/semantics/article | |
dc.type | info:eu-repo/semantics/publishedVersion | |
dc.relation.journal | American Journal Of Human Genetics | |
dc.contributor.department | İç Hastalıkları | |
dc.identifier.volume | 93 | |
dc.identifier.issue | 2 | |
dc.identifier.startpage | 298 | |
dc.identifier.endpage | 305 | |
dc.description.index | WoS | |
dc.description.index | Scopus | |