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https://hdl.handle.net/11499/10535
Title: | Identification of susceptibility loci in IL6, RPS9/LILRB3, and an intergenic locus on chromosome 21q22 in takayasu arteritis in a genome-wide association study | Authors: | Renauer, P.A. Saruhan-Direskeneli, G. Coit, P. Adler, A. Aksu, K. Keser, G. Alibaz-Oner, F. |
Keywords: | spacer DNA IL6 protein, human immunoglobulin receptor interleukin 6 leukocyte antigen LILRB3 protein, human ribosomal protein S9 ribosome protein aorta arch syndrome Article chromosome 19q chromosome 21q cohort analysis controlled study European gene gene cluster gene identification genetic association genetic risk genetic susceptibility genetic variability genotype genotyping technique human lilra3 gene lilrb3 gene major clinical study North America North American nrbp1 gene pcsk5 gene ppm1g gene priority journal ptk2b gene quality control quantitative trait locus ribosomal protein s9 gene single nucleotide polymorphism Turk (people) Turkey (republic) case control study Caucasian chromosome 21 genetic predisposition genetics odds ratio Turkey Antigens, CD Case-Control Studies Chromosomes, Human, Pair 21 Cohort Studies European Continental Ancestry Group Genetic Predisposition to Disease Genome-Wide Association Study Humans Interleukin-6 Odds Ratio Receptors, Immunologic Ribosomal Proteins Takayasu Arteritis |
Publisher: | John Wiley and Sons Inc. | Abstract: | Objective Takayasu arteritis is a rare large vessel vasculitis with incompletely understood etiology. This study was undertaken to perform the first unbiased genome-wide association analysis of Takayasu arteritis. Methods Two independent cohorts of patients with Takayasu arteritis from Turkey and North America were included in our study. The Turkish cohort consisted of 559 patients and 489 controls, and the North American cohort consisted of 134 patients and 1,047 controls of European ancestry. Genotyping was performed using the Omni1-Quad and Omni2.5 genotyping arrays. Genotyping data were subjected to rigorous quality control measures and subsequently analyzed to discover genetic susceptibility loci for Takayasu arteritis. Results We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10-9), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10-8), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10-10). The genetic susceptibility locus in RPS9/LILRB3 lies within the leukocyte receptor complex gene cluster on chromosome 19q13.4, and the disease risk variant in this locus correlates with reduced expression of multiple genes including the inhibitory leukocyte immunoglobulin-like receptor gene LILRB3 (P = 2.29 × 10-8). In addition, we identified candidate susceptibility genes with suggestive levels of association (P < 1 × 10-5) with Takayasu arteritis, including PCSK5, LILRA3, PPM1G/NRBP1, and PTK2B. Conclusion Our findings indicate novel genetic susceptibility loci for Takayasu arteritis and uncover potentially important aspects of the pathophysiology of this form of vasculitis. © 2015, American College of Rheumatology. | URI: | https://hdl.handle.net/11499/10535 https://doi.org/10.1002/art.39035 |
ISSN: | 2326-5191 |
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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