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Identification of Multiple Genetic Susceptibility Loci in Takayasu Arteritis

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dc.creator Duzgun, Nursen
dc.creator Saruhan-Direskeneli, Guher
dc.creator Hughes, Travis
dc.creator AKSU, KENAN
dc.creator Sawalha, Amr H.
dc.creator Direskeneli, Haner
dc.creator Merkel, Peter A.
dc.creator Yentur, Sibel P.
dc.creator Bicakcigil, Muge
dc.creator Tunc, Ercan
dc.creator James, Judith A.
dc.creator Guthridge, Joel M.
dc.creator Onat, A. Mesut
dc.creator Cobankara, Veli
dc.creator Ytterberg, Steven R.
dc.creator Ozturk, Mehmet A.
dc.creator Warrington, Kenneth J.
dc.creator Seo, Philip
dc.creator ÇEFLE, AYŞE
dc.creator Fresko, Izzet
dc.creator Seyahi, Emire
dc.creator Ozer, Huseyin T.
dc.creator Monach, Paul A.
dc.creator Maksimowicz-McKinnon, Kathleen
dc.creator Karaaslan, Yasar
dc.creator Ates, Askin
dc.creator Ozbalkan, Zeynep
dc.creator McAlear, Carol A.
dc.creator KESER, GÖKHAN
dc.creator Coit, Patrick
dc.creator Aydin, Sibel Z.
dc.creator ALİBAZ ÖNER, FATMA
dc.creator Langford, Carol A.
dc.creator KİRAZ, SEDAT
dc.creator KARADAĞ, ÖMER
dc.creator Koening, Curry
dc.creator Khalidi, Nader A.
dc.creator AKKOÇ, NURULLAH
dc.creator ÖNEN, FATOŞ
dc.creator Akar, Servet
dc.creator Hoffman, Gary S.
dc.creator Carette, Simon
dc.creator Inanc, Murat
dc.creator Kamali, Sevil
dc.date 2013-08-08T00:00:00Z
dc.date.accessioned 2021-12-03T11:15:20Z
dc.date.available 2021-12-03T11:15:20Z
dc.identifier 12d36636-5ebb-4540-8372-cde7a0f889c4
dc.identifier 10.1016/j.ajhg.2013.05.026
dc.identifier https://avesis.sdu.edu.tr/publication/details/12d36636-5ebb-4540-8372-cde7a0f889c4/oai
dc.identifier.uri http://acikerisim.sdu.edu.tr/xmlui/handle/123456789/90037
dc.description 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 eng
dc.rights info:eu-repo/semantics/openAccess
dc.title Identification of Multiple Genetic Susceptibility Loci in Takayasu Arteritis
dc.type info:eu-repo/semantics/article


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