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PDCD1 polymorphisms are not associated with Takayasu's arteritis in Turkey
H. Direskeneli, E. Tuna-Erdogan, F. Gündüz, A. Bandurska-Luque, B. Alparslan, M. Kebe, F.A. Uyar, M. Bicakcigil, K. Aksu, S. Kamali, Z. Ozbalkan, A. Ates, O. Karadag, H.T. Ozer, S. Akar, F. Önen, E. Seyahi, A.M. Onat, S.Z. Aydin, N. Yilmaz, A. Çefle, V. Cobankara, E. Tunc, M.A. Ozturk, I. Fresko, Y. Karaaslan, N. Akkoc, A.E. Yücel, S. Kiraz, G. Keser, M. Inanc, G. Saruhan-Direskeneli
CER4615
2012 Vol.30, N°1 ,Suppl.70
PI 0011, PF 0014
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PMID: 22274654 [PubMed]
Received: 23/03/2011
Accepted : 21/06/2011
In Press: 14/05/2012
Published: 10/05/2012
Abstract
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.
CONCLUSIONS:
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.
