PTPN22 gene polymorphism in Takayasu's arteritis

• Published in: Rheumatology (Oxford, England) Vol. 47; no. 5; pp. 634 - 635
• Main Authors: Sahin, N., Aksu, K., Kamalı, S., Bicakcigil, M., Özbalkan, Z., Fresko, I., Özer, H., Akar, S., Onat, A. M., Çobankara, V., Kiraz, S., Öztürk, M. A., Tunç, E., Yücel, E., Ateş, A., Keser, G., Inanc, M., Direskeneli, H., Saruhan-Direskeneli, G.
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01-05-2008; Oxford Publishing Limited (England)
• Subjects: Adult; Biological and medical sciences; Case-Control Studies; Diseases of the osteoarticular system; Female; Gene Frequency; Genetic Predisposition to Disease; Heterozygote; Humans; Male; Medical sciences; Middle Aged; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Protein Tyrosine Phosphatase, Non-Receptor Type 22 - genetics; PTPN22; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Single nucleotide polymorphism; Takayasu Arteritis - genetics; Takayasu's arteritis; Turkey; Turkey; Takayasu's arteritis; PTPN22; Single nucleotide polymorphism; Vascular disease; Vasculitis; Systemic disease; Rheumatology; Cardiovascular disease; Takayashu arteritis
• ISSN: 1462-0324; 1462-0332
• DOI: 10.1093/rheumatology/ken106

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.