Please use this identifier to cite or link to this item:
https://hdl.handle.net/11499/8036
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Saruhan-Direskeneli, G. | - |
dc.contributor.author | Hughes, T. | - |
dc.contributor.author | Aksu, K. | - |
dc.contributor.author | Keser, G. | - |
dc.contributor.author | Coit, P. | - |
dc.contributor.author | Aydin, S.Z. | - |
dc.contributor.author | Alibaz-Oner, F. | - |
dc.date.accessioned | 2019-08-16T12:34:39Z | |
dc.date.available | 2019-08-16T12:34:39Z | |
dc.date.issued | 2013 | - |
dc.identifier.issn | 0002-9297 | - |
dc.identifier.uri | https://hdl.handle.net/11499/8036 | - |
dc.identifier.uri | https://doi.org/10.1016/j.ajhg.2013.05.026 | - |
dc.description.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. | en_US |
dc.language.iso | en | en_US |
dc.relation.ispartof | American Journal of Human Genetics | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | HLA B antigen | en_US |
dc.subject | HLA DQB1 antigen | en_US |
dc.subject | HLA DRB1 antigen | en_US |
dc.subject | messenger RNA | en_US |
dc.subject | allele | en_US |
dc.subject | aorta arch syndrome | en_US |
dc.subject | article | en_US |
dc.subject | chromosome 1 | en_US |
dc.subject | gene expression | en_US |
dc.subject | gene locus | en_US |
dc.subject | genetic association | en_US |
dc.subject | genetic risk | en_US |
dc.subject | genetic susceptibility | en_US |
dc.subject | genetic variability | en_US |
dc.subject | genotype | en_US |
dc.subject | haplotype | en_US |
dc.subject | heterozygosity | en_US |
dc.subject | HLA system | en_US |
dc.subject | priority journal | en_US |
dc.subject | Female | en_US |
dc.subject | Genetic Loci | en_US |
dc.subject | Genetic Predisposition to Disease | en_US |
dc.subject | Genotyping Techniques | en_US |
dc.subject | Histocompatibility Antigens Class I | en_US |
dc.subject | HLA-B Antigens | en_US |
dc.subject | HLA-DQ beta-Chains | en_US |
dc.subject | HLA-DRB1 Chains | en_US |
dc.subject | Humans | en_US |
dc.subject | Interleukin-12 Subunit p40 | en_US |
dc.subject | Male | en_US |
dc.subject | Mutation | en_US |
dc.subject | North America | en_US |
dc.subject | Receptors, IgG | en_US |
dc.subject | Risk | en_US |
dc.subject | Takayasu Arteritis | en_US |
dc.subject | Turkey | en_US |
dc.title | Identification of multiple genetic susceptibility loci in Takayasu arteritis | en_US |
dc.type | Article | en_US |
dc.identifier.volume | 93 | en_US |
dc.identifier.issue | 2 | en_US |
dc.identifier.startpage | 298 | |
dc.identifier.startpage | 298 | en_US |
dc.identifier.endpage | 305 | en_US |
dc.identifier.doi | 10.1016/j.ajhg.2013.05.026 | - |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.identifier.pmid | 23830517 | en_US |
dc.identifier.scopus | 2-s2.0-84881669855 | en_US |
dc.identifier.wos | WOS:000323186200009 | en_US |
dc.identifier.scopusquality | Q1 | - |
dc.owner | Pamukkale University | - |
item.languageiso639-1 | en | - |
item.openairetype | Article | - |
item.grantfulltext | open | - |
item.cerifentitytype | Publications | - |
item.fulltext | With Fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
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 |
Files in This Item:
File | Size | Format | |
---|---|---|---|
1-s2.0-S0002929713002681-main.pdf | 1.35 MB | Adobe PDF | View/Open |
CORE Recommender
SCOPUSTM
Citations
144
checked on Jun 29, 2024
WEB OF SCIENCETM
Citations
128
checked on Jul 10, 2024
Page view(s)
12
checked on May 27, 2024
Download(s)
8
checked on May 27, 2024
Google ScholarTM
Check
Altmetric
Items in GCRIS Repository are protected by copyright, with all rights reserved, unless otherwise indicated.