| Literature DB >> 23830517 |
Güher Saruhan-Direskeneli1, Travis Hughes, Kenan Aksu, Gokhan Keser, Patrick Coit, Sibel Z Aydin, Fatma Alibaz-Oner, Sevil Kamalı, 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 McAlear, Zeynep 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 Bıcakcıgil, Sibel P Yentür, Peter A Merkel, Haner Direskeneli, Amr H Sawalha.
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 ~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)).Entities:
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Year: 2013 PMID： 23830517 PMCID： PMC3738826 DOI： 10.1016/j.ajhg.2013.05.026
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025