Identification of Multiple Genetic Susceptibility Loci in Takayasu Arteritis

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dc.contributor.authorSaruhan-Direskeneli, Guher
dc.contributor.authorHughes, Travis
dc.contributor.authorAksu, Kenan
dc.contributor.authorKeser, Gokhan
dc.contributor.authorCoit, Patrick
dc.contributor.authorAydin, Sibel Z.
dc.contributor.authorAlibaz-Oner, Fatma
dc.contributor.authorKamali, Sevil
dc.contributor.authorInanc, Murat
dc.contributor.authorCarette, Simon
dc.contributor.authorHoffman, Gary S.
dc.contributor.authorAkar, Servet
dc.contributor.authorOnen, Fatos
dc.contributor.authorAkkoc, Nurullah
dc.contributor.authorKhalidi, Nader A.
dc.contributor.authorKoening, Curry
dc.contributor.authorKaradag, Omer
dc.contributor.authorKiraz, Sedat
dc.contributor.authorLangford, Carol A.
dc.contributor.authorMcAlear, Carol A.
dc.contributor.authorOzbalkan, Zeynep
dc.contributor.authorAtes, Askin
dc.contributor.authorKaraaslan, Yasar
dc.contributor.authorMaksimowicz-McKinnon, Kathleen
dc.contributor.authorMonach, Paul A.
dc.contributor.authorOzer, Huseyin T.
dc.contributor.authorSeyahi, Emire
dc.contributor.authorFresko, Izzet
dc.contributor.authorCefle, Ayse
dc.contributor.authorSeo, Philip
dc.contributor.authorWarrington, Kenneth J.
dc.contributor.authorOzturk, Mehmet A.
dc.contributor.authorYtterberg, Steven R.
dc.contributor.authorCobankara, Veli
dc.contributor.authorOnat, A. Mesut
dc.contributor.authorGuthridge, Joel M.
dc.contributor.authorJames, Judith A.
dc.contributor.authorTunc, Ercan
dc.contributor.authorDuzgun, Nursen
dc.contributor.authorBicakcigil, Muge
dc.contributor.authorYentur, Sibel P.
dc.contributor.authorMerkel, Peter A.
dc.contributor.authorDireskeneli, Haner
dc.contributor.authorSawalha, Amr H.
dc.date.accessioned2019-10-27T22:08:59Z
dc.date.available2019-10-27T22:08:59Z
dc.date.issued2013
dc.departmentEge Üniversitesien_US
dc.description.abstractTakayasu 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)).en_US
dc.description.sponsorshipUniversity of MichiganUniversity of Michigan System; Vasculitis Foundation; National Institutes of HealthUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [GM103510, AR053483, AI08714, AI101914]; National Institute of Arthritis and Musculoskeletal and Skin DiseasesUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Arthritis & Musculoskeletal & Skin Diseases (NIAMS) [U54AR057319, U01 AR51874 04]; National Center for Research ResourcesUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Center for Research Resources (NCRR) [U54 RR019497]; Office of Rare Diseases Research of the National Center for Advancing Translational Sciencesen_US
dc.description.sponsorshipThis work was supported by funding from the University of Michigan and the Vasculitis Foundation. Procurement and genotyping of the European-American control samples was supported by the National Institutes of Health grants GM103510, AR053483, AI08714, and AI101914. The Vasculitis Clinical Research Consortium has received support from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (U54AR057319 and U01 AR51874 04), the National Center for Research Resources (U54 RR019497), and the Office of Rare Diseases Research of the National Center for Advancing Translational Sciences.en_US
dc.identifier.doi10.1016/j.ajhg.2013.05.026en_US
dc.identifier.endpage305en_US
dc.identifier.issn0002-9297
dc.identifier.issue2en_US
dc.identifier.pmid23830517en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage298en_US
dc.identifier.urihttps://doi.org/10.1016/j.ajhg.2013.05.026
dc.identifier.urihttps://hdl.handle.net/11454/49263
dc.identifier.volume93en_US
dc.identifier.wosWOS:000323186200009en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherCell Pressen_US
dc.relation.ispartofAmerican Journal of Human Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleIdentification of Multiple Genetic Susceptibility Loci in Takayasu Arteritisen_US
dc.typeArticleen_US

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