rs113452171 - HLA-DQA1 - HLA-DQB1

Magnitude 4.5 · 1 study on file

Reported associations

• Identification of multiple genetic susceptibility loci in Takayasu arteritis. - American journal of human genetics (2013) · Saruhan-Direskeneli G, Hughes T, Aksu K, Keser G, Coit P, Aydin SZ, Alibaz-Oner F, Kamalı S, Inanc M, Carette S, Hoffman GS, Akar S, Onen F, Akkoc N, Khalidi NA, Koening C, Karadag O, Kiraz S, Langford CA, McAlear CA, Ozbalkan Z, Ates A, Karaaslan Y, Maksimowicz-McKinnon K, Monach PA, Ozer HT, Seyahi E, Fresko I, Cefle A, Seo P, Warrington KJ, Ozturk MA, Ytterberg SR, Cobankara V, Onat AM, Guthridge JM, James JA, Tunc E, Duzgun N, Bıcakcıgil M, Yentür SP, Merkel PA, Direskeneli H, Sawalha AH · PubMed 23830517

  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 ide

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