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https://hdl.handle.net/11499/8036
Title: | Identification of multiple genetic susceptibility loci in Takayasu arteritis | Authors: | Saruhan-Direskeneli, G. Hughes, T. Aksu, K. Keser, G. Coit, P. Aydin, S.Z. Alibaz-Oner, F. |
Keywords: | HLA B antigen HLA DQB1 antigen HLA DRB1 antigen messenger RNA allele aorta arch syndrome article chromosome 1 gene expression gene locus genetic association genetic risk genetic susceptibility genetic variability genotype haplotype heterozygosity HLA system priority journal Female Genetic Loci Genetic Predisposition to Disease Genotyping Techniques Histocompatibility Antigens Class I HLA-B Antigens HLA-DQ beta-Chains HLA-DRB1 Chains Humans Interleukin-12 Subunit p40 Male Mutation North America Receptors, IgG Risk Takayasu Arteritis Turkey |
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). © 2013 The American Society of Human Genetics. | URI: | https://hdl.handle.net/11499/8036 https://doi.org/10.1016/j.ajhg.2013.05.026 |
ISSN: | 0002-9297 |
Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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