Sahin N, Aksu K, Kamali S, Bicakcigil M, Ozbalkan Z, Fresko I, Ozer H, Akar S, Onat A M, Cobankara V, Kiraz S, Oztürk M A, Tunç E, Yücel E, Ates A, Keser G, Inanc M, Direskeneli H, Saruhan-Direskeneli G
Marmara University Medical Faculty, Division of Rheumatology, Istanbul, Turkey.
Rheumatology (Oxford). 2008 May;47(5):634-5. doi: 10.1093/rheumatology/ken106. Epub 2008 Mar 29.
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.
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.
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.
The distribution of PTPN22 polymorphism did not reveal any association with TA in Turkey.
高安动脉炎（TA）是一种病因不明的慢性、罕见的肉芽肿性全动脉炎，主要累及主动脉及其主要分支。在本研究中，通过筛查编码淋巴特异性蛋白酪氨酸磷酸酶的PTPN22基因的功能性单核苷酸多态性（SNP），对TA的遗传易感性进行了研究。
采用PCR-RFLP方法对181例TA患者和177例健康对照者进行PTPN22基因SNP rs2476601（A/G）基因分型。通过PCR扩增多态性区域，并用Xcm I酶进行消化。
对照组杂合基因型（AG）的检测频率为5.1%（9/177），TA组为3.8%（7/181）（P = 0.61，优势比：0.75，95%可信区间：0.3，2.0）。也未观察到与TA的血管造影类型、血管受累情况或预后相关。
在土耳其，PTPN22多态性的分布与TA无任何关联。
