新疆维族肺血栓栓塞症患者的PS-K196E多态性探讨

Correlation between PS-K196 epolymorphism and pulmonary thromboembolism in Wei people in Xinjiang

目的探讨蛋白S基因1(protein S1,PROS1)赖氨酸196谷氨酸的(PS-Lys196 Glu即PS-K196E,单字母命名法K-Lys,E-Glu)多态性与新疆地区维族人群肺血栓栓塞症(pulmonary thromboembolism,PTE)发生的相关性。方法采用病例—对照研究,病例组为经放射性肺通气/灌注显像和(或)螺旋CT肺动脉造影检查,并结合临床资料确诊的PTE患者100例,对照组为来自同一地区,性别、年龄匹配的健康对照100例。用酶联免疫吸附试验法测定PS活性(PS:A)。Massarray技术平台进行芯片点制及质谱检测PS-K196E的多态性。结果 PTE组和对照组的PS抗原活性分别是53.84%和90.50%,K196E突变杂合子携带者的PS活性降低到70.29%,纯合子携带者的PS活性降低到49.85%,差异具有统计学意义;病例组和对照组AG基因型的频率分别是55%和40%,对照组GG基因型的频率是35%和22%,差异有统计学意义(χ2=17.666,P<0.05);AG和GG基因型与AA基因型的比值比分别是0.191和0.161(OR=0.191,95%CI 0.085～0.429;OR=0.165,95%CI 0.069～0.398);病例组和对照组的等位基因是G频率的62.5%和42%,差异有统计学意义(χ2=16.844,P<0.05)。结论 PS-K196E突变的杂合子和纯合子的蛋白S的活性均降低,尤其是后者更明显,PS-K196E多态性与新疆地区维族人肺栓塞的发生可能有关。

Objective To determine the prevlance of protein S lysine 196 glutamic acid （single letter nomenclature, K-lys, E-glu） gene polymoophism in Wei people in Xinjiang and to investigate whether it was associated with the risk of pulmonary thromboembolism（PET）. Methods One hundred PET patients and one hundred age and sex-matched healthy controlled from the same geographic area were enrolled. All patients were diagnosed on the basis of lung ventilation/perfusion scan and/or multi-slice CT pulmonary angiography as well as medical history and clinical manifestations. Enzyme linked immuosorbent assay methods were used to measure the activity of protein S antigen . Massarray technology were used to chip point and spectrum test to identify the protein gene polymorphism. Results The activity of PTE patients and controls were 53.84% and 90.50% respectively. The heterozygous K196E patients, protein S antigen we reduced to 70.29%, the homozygous K196E patient, s protein S antigen were decreased to 49.85% , the difference had statistics significance. The prevalence of G allele in both PTE patients and controls were 62.5% and 42% respectively, the values were significantly different, （X2 = 16. 884, P 〈 0.05 ）. The prevalence of AG gene type in both PTE patients and controls were 55% and 40% respectively,the values were significantly different, （X2 = 617. 666, P 〈 0.05 ）. The prevalence of GG gene type in both PTE patients and controls were 55% and 40% respectively, the values were significantly different, （X2 = 17.513, P 〈 0.05）. the odds ratios of AG gene type and GG gene type were 0.191 and 0. 165 respectively. （ OR = 0. 191,95% CI 0. 085 - 0. 429, OR = 0. 165,95% CI 0. 069 0. 398）. Conclusion Both the heterozygous and homozygous of KI96E patient, s protein S antigen induce,especially the latter. PS-k196E gene polymorphism was associated with PET risk in Wei people in Xinjiang.