新疆哈萨克族、汉族心房颤动血栓栓塞与PS基因多态性及可溶性P-选择素相关性研究

摘要

Objective To investigate the association of the 2123C/G and Thr715Pro polymorphisms of P selectin ( PS) with plasma levels of soluble P-selectin in Han and Kazak patients with atrial fibrillation ( AF) coupled with thrombosis in Xinjiang .Methods To-tally 248 age-and sex-matched Kazak subjects (150 control subjects and 98 AF patients) and 340 Han subjects (219 control subjects and 121 AF patients) were enrolled.Polymerase chain reaction -restriction fragment length polymorphism (PCR -RFLP) and direct DNA sequence analysis were used to investigate 2123C/G and Thr715Pro polymorphisms.ELISA method was used to determine plasma levels of SPs.Results Plasma sPS levels showed significant difference between Han and Kazak case and control groups (P=0.000). The frequency distribution of the 2123C/G and the allele showed no significant differences between Kazak and Han population ( P =0.064,P=0.453).Thr715Pro did not show any polymorphism in the two populations .Plasma sPS levels were significantly associated with the 2123C/G polymorphism, and signifiacntly higher in the patients with GG genotype than in those with GC or CC genotype ( P<0.05).Conclusion PS gene polymorphisms are associated with plasma levels of sP -selectin, suggesting that the patients with nonval-vular AF and thromboembolic events may have genetic susceptibility .%目的 研究新疆维吾尔自治区哈萨克族、汉族心房颤动(以下简称房颤)合并血栓栓塞P-选择素( P-selectin, PS)基因在2123C/G、Thr715Pro位点多态性与可溶性P-选择素(souble P-selectin,sPs)血浆水平的相关性. 方法 收集新疆维吾尔自治区哈萨克族248例(其中病例组98例,对照组150例)、汉族340例(其中病例组121例,对照组219例) ,采用聚合酶链反应-限制性片段长度多态性法(PCR-RFLP)进行PS基因2123C/G、Thr715Pro位点多态性直接DNA序列分析,ELISA法测定血浆sPs水平. 结果 哈萨克族、汉族人群PS基因2123C/G位点基因型和等位基因频率分布差异无统计学意义( P=0.064,P=0.453),汉族、哈萨克族房颤合并血栓栓塞患者sPs血浆水平与房颤患者差异有统计学意义(P=0.000). 汉族、哈萨克族人群未检测出Thr715Pro基因多态性. sPs血浆水平与2123C/G基因多态性有明显相关性,GG基因型的sPs水平显著高于CG+CC基因型(P<0.05). 结论 PS基因多态性与血浆sPs水平或血栓栓塞事件相关,房颤患者并发血栓栓塞事件可能存在遗传易感性.