Identification of multiple genetic susceptibility loci in Takayasu arteritis

Güher Saruhan-Direskeneli, Travis Hughes, Kenan Aksu, Gokhan Keser, Patrick Coit, Sibel Z. Aydin, Fatma Alibaz-Oner, Sevil Kamali, Murat Inanc, Simon Carette, Gary S. Hoffman, Servet Akar, Fatos Onen, Nurullah Akkoc, Nader A. Khalidi, Curry Koening, Omer Karadag, Sedat Kiraz, Carol A. Langford, Carol A. McAlearZeynep Ozbalkan, Askin Ates, Yasar Karaaslan, Kathleen Maksimowicz-Mckinnon, Paul A. Monach, Hüseyin T. Ozer, Emire Seyahi, Izzet Fresko, Ayse Cefle, Philip Seo, Kenneth J. Warrington, Mehmet A. Ozturk, Steven R. Ytterberg, Veli Cobankara, A. Mesut Onat, Joel M. Guthridge, Judith A. James, Ercan Tunc, Nurşen Duzgun, Muge Bicakcigil, Sibel P. Yentür, Peter A. Merkel, Haner Direskeneli, Amr H. Sawalha

Research output: Contribution to journalArticlepeer-review

105 Scopus citations


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 ∼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 × 10-16) and HLA-DQB1/HLA-DRB1 (rs113452171, OR = 2.34, p = 3.74 × 10-9; and rs189754752, OR = 2.47, p = 4.22 × 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 × 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 × 10-8).

Original languageEnglish (US)
Pages (from-to)298-305
Number of pages8
JournalAmerican journal of human genetics
Issue number2
StatePublished - Aug 8 2013

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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