PDCD1 polymorphisms are not associated with Takayasu's arteritis in Turkey
Autor: | Direskeneli H., Tuna-Erdogan E., Gündüz F., Bandurska-Luque A., Alparslan B., Kebe M., Uyar F.A. |
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Přispěvatelé: | Direskeneli, H., Tuna-Erdogan, E., Gündüz, F., Bandurska-Luque, A., Alparslan, B., Kebe, M., Saruhan-Direskeneli, G., Yeditepe Üniversitesi, Çukurova Üniversitesi |
Jazyk: | angličtina |
Rok vydání: | 2012 |
Předmět: |
Takayasu's arteritis
Adult Male PDCD1 gene genetic association Turkey genotype Programmed Cell Death 1 Receptor Polymerase Chain Reaction Polymorphism Single Nucleotide Risk Assessment Turkey (republic) ethnic group Gene Frequency single nucleotide polymorphism Risk Factors Humans controlled study Genetic Predisposition to Disease human gene Programmed cell death Chi-Square Distribution PDCD1 disease association disease predisposition aorta arch syndrome article nucleotide sequence programmed death 1 receptor case control study major clinical study Takayasu Arteritis female Phenotype priority journal Case-Control Studies population research genetic susceptibility |
Popis: | PubMedID: 22274654 Objectives: Takayasu's arteritis (TA) is a chronic arterial inflammation of unknown etiology involving mainly the aorta and its major branches. Based on the associations of programmed death-1 (PD-1) protein encoding gene (PDCD1) with connective tissue diseases and vasculitides, PDCD1 polymorphisms are studied for susceptibility to TA in this study. Methods: The study group is made up of TA patients (n=229) fulfilling the 1990 ACR classification criteria and compared to 193 healthy controls (HC). PD-1.3, PD-1.5 and PD-1.6 single nucleotide polymorphisms of PDCD1 gene are genotyped by polymerase chain reaction and restriction analysis (PCR-RFLP). Results: The distribution of PD-1.5 polymorphism in TA patients and HC revealed a similar presence of TT genotype in patients and controls (13.3% vs. 11.4%). PD-1.3 and PD-1.6 were less polymorphic and did not differ between the groups. Rare AA genotype of PD-1.3 (1.4% vs. 1.0%) and AG genotype of PD-1.6 was again similarly (22.4% vs. 19.2%) present in TA and HC. Conclusion: PD-1.3, 1.5 and 1.6 polymorphisms of PDCD1 gene, which were shown to be associated with various autoimmune disorders and vasculitides, are not associated with a susceptibility to TA in Turkish population. © Clinical and Experimental Rheumatology 2012. |
Databáze: | OpenAIRE |
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