作者
Güher Saruhan-Direskeneli, 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
发表日期
2013/8/8
期刊
The American Journal of Human Genetics
卷号
93
期号
2
页码范围
298-305
出版商
Elsevier
简介
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 (r2 < 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 …
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G Saruhan-Direskeneli, T Hughes, K Aksu, G Keser… - The American Journal of Human Genetics, 2013