蛋白酪氨酸磷酸酶非受体型22（PTPN22）基因多态性与强直性脊柱炎易感性的关联
Association of PTPN22 polymorphsims and ankylosing spondylitis susceptibility.
作者信息
Meng Qingxi, Zhang Xiaojun, Liu Xin, Wang Weiguo, Yu Peng, Shan Qunqun, Mao Zhaohu, Zhao Tingbao
机构信息
Department of Spinal Cord Injury, Institute of Orthopedics and Traumatology of Chinese PLA, General Hospital of Jinan Military Area Command Jinan, Shandong, China.
The First Veteran Institute of Jinan Military Region Jinan, Shandong, China.
出版信息
Int J Clin Exp Pathol. 2015 Jan 1;8(1):933-7. eCollection 2015.
BACKGROUND
As a susceptibility gene for AS, the polymorphsims of PTPN22 associated with disease susceptibility.
METHODS
We selected two SNPs of rs1217406 and rs1217414 within PTPN22 with Haploview software and investigated the relationship between the SNPs of PTPN22 gene and AS susceptibility. 120 AS patients and 100 healthy people were enrolled from Qilu Hospital of Shandong University. And we genotyped the SNPs of PTPN22 with PCR-RFLP method.
RESULTS
The results showed that C allele (rs1217406) and T allele (rs1217414) both were risk factors for AS (OR: 3.12, 2.13). The persons with A-T, C-C or C-T haplotypes were more likely to suffer AS (OR: 3.17, 3.66, 4.011).
CONCLUSIONS
Due to the close relationship of PTPN22 and AS, the study may be helpful for the early diagnosis and differential diagnosis.
背景
作为强直性脊柱炎（AS）的一个易感基因，蛋白酪氨酸磷酸酶非受体型22（PTPN22）的多态性与疾病易感性相关。
方法
我们利用Haploview软件在PTPN22基因中选取了rs1217406和rs1217414这两个单核苷酸多态性位点（SNPs），并研究PTPN22基因的SNPs与AS易感性之间的关系。从山东大学齐鲁医院招募了120例AS患者和100名健康人。我们采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对PTPN22基因的SNPs进行基因分型。
结果
结果显示，C等位基因（rs1217406）和T等位基因（rs1217414）均为AS的危险因素（比值比：3.12，2.13）。具有A-T、C-C或C-T单倍型的人更易患AS（比值比：3.17，3.66，4.011）。
结论
由于PTPN22与AS关系密切，该研究可能有助于早期诊断和鉴别诊断。
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