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Rheumatology Advance Access originally published online on March 29, 2008
Rheumatology 2008 47(5):634-635; doi:10.1093/rheumatology/ken106
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© The Author 2008. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

PTPN22 gene polymorphism in Takayasu's arteritis

N. Sahin1, K. Aksu2, S. Kamali3, M. Bicakcigil1, Z. Özbalkan4, I. Fresko5, H. Özer6, S. Akar7, A. M. Onat8, V. Çobankara9, S. Kiraz10, M. A. Öztürk11, E. Tunç12, E. Yücel13, A. Ates4, G. Keser2, M. Inanc3, H. Direskeneli1, G. Saruhan-Direskeneli14 and for RAED Vasculitis Study Group, Turkey

1Marmara University Medical Faculty, Division of Rheumatology, Istanbul, 2Ege University Medical Faculty, Division of Rheumatology, Izmir, 3Istanbul University Istanbul Medical Faculty, Division of Rheumatology, Istanbul, 4Ankara Numune Education and Research Hospital, Ankara, 5Istanbul University Cerrahpasa Medical Faculty, Division of Rheumatology, Istanbul, 6Çukurova University Medical Faculty, Division of Rheumatology, Adana, 7Dokuz Eylül University Medical Faculty, Division of Rheumatology, Izmir, 8Gaziantep University Medical Faculty, Division of Rheumatology, Gaziantep, 9Pamukkale University Medical Faculty, Division of Rheumatology, Denizli, 10Hacettepe University Medical Faculty, Division of Rheumatology, 11Gazi University Medical Faculty, Division of Rheumatology, Ankara, 12Süleyman Demirel University Medical Faculty, Division of Rheumatology, Isparta, 13Baskent University Medical Faculty, Division of Rheumatology, Ankara and 14Istanbul University Istanbul Medical Faculty, Department of Physiology, Istanbul, Turkey.

Correspondence to: H. Direskeneli, Marmara University Hospital, Tophanelioglu Cad. 13/15, 81190 Baglarbasi, Uskudar, Istanbul, Turkey. E-mail: direskeneli{at}superonline.com


  Abstract

Objective. Takayasu's arteritis (TA) is a chronic, rare granulomatous panarteritis of unknown aetiology involving mainly the aorta and its major branches. In this study, genetic susceptibility to TA has been investigated by screening the functional single nucleotide polymorphism (SNP) of PTPN22 gene encoding the lymphoid-specific protein tyrosine phosphatase.

Methods. Totally, 181 patients with TA and 177 healthy controls are genotyped by PCR-RFLP method for the SNP rs2476601 (A/G) of PTPN22 gene. Polymorphic region was amplified by PCR and digested with Xcm I enzyme.

Results. Detected frequencies of heterozygous genotype (AG) were 5.1% (9/177) in control group and 3.8% (7/181) in TA group (P = 0.61, odds ratio: 0.75, 95% CI: 0.3, 2.0). No association with angiographic type, vascular involvement or prognosis of TA was observed either.

Conclusion. The distribution of PTPN22 polymorphism did not reveal any association with TA in Turkey.

KEY WORDS: Takayasu's arteritis, Single nucleotide polymorphism, PTPN22

Submitted 31 October 2007; Accepted 13 February 2008


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