血小板糖蛋白受体Ⅲa的PLA1/A2多态性与子痫前期患者遗传易感性的相关性(1)
[摘要] 目的 探讨血小板糖蛋白受体Ⅲa(GPⅢa)基因PLA1/A2多态性与子痫前期(PE)遗传易感性的相关性。方法 选取2016年9月～2018年9月于本院住院分娩的PE患者120例为PE组，对照组为120例正常妊娠妇女。采用常规检测收集普通风险指标并比较其在PE 组及对照组之间的差异。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测GPⅢa的PLA1/A2多态性，分析血小板糖蛋白受体Ⅲa(GPⅢa)的PLA1/A2多态性与子痫前期患者遗传易感性的相关性。 结果 对照组和PE组A1/A1、A1/A2、A2/A2基因型频率分别为75.0%(90/120)、23.3%(28/120)、1.7%(2/120)和70.0%(84/120)、26.7%(32/120)、3.3%(4/120)，差异无统计学意义(P>0.05);对照组和PE组的等位基因频率A1、A2分别为76.3%(116/152)、23.7%(36/152)和79.7%(118/148)、20.3%(30/148)，差异无统计学意义(P>0.05)。与A1/A1基因型相比，A1/A2和A2/A2基因型具有较高的收缩压和舒张压，差异有统计学意义(P<0.001)。结论 中国人群PLA1/A2多态性与子痫前期风险无关，尚需在更大的样本中进行验证。
[关键词] 子痫前期;血小板糖蛋白受体;多态性;遗传易感性
[中图分类号] R96 [文献标识码] A [文章编号] 1673-9701(2020)29-0020-04
[Abstract] Objective To explore the correlation between the PLA1/A2 polymorphism of the platelet glycoprotein Ⅲa receptor(GPⅢa) genes and genetic susceptibility with preeclampsia(PE). Methods A total of 120 patients with PE hospitalized in our hospital for delivery from September 2016 to September 2018 were selected as the PE group and 120 normal pregnant women were taken as the control group. Common risk indicators were collected through conventional detection and their differences between the PE group and the control group were compared. The technology of polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) was used to detect the PLA1/A2 polymorphism of GPⅢA， so as to analyze the correlation between PLA1/A2 polymorphism of GPⅢa and genetic susceptibility of the patients with PE. Results The genotype frequencies of A1/A1， A1/A2 and A2/A2 in the control group and the PE group were respectively 75.0%(90/120)， 23.3%(28/120)， 1.7%(2/120) and 70.0%(84/120)， 26.7%(32/120)， 3.3%(4/120)， and the differences were statistically insignificant(P>0.05). The allele frequencies of A1 and A2 in the control group and the PE group were respectively 76.3%(116/152)， 23.7%(36/152) and 79.7%(118/148)， 20.3%(30/148)， and the differences were statistically insignificant(P>0.05). Compared with genotype A1/A1， genotype A1/A2 and genotype A2/A2 had higher systolic and diastolic blood pressure， and the differences were statistically significant(P<0.001). Conclusion Whether PLA1/A2 polymorphism in Chinese population is related to the risk of PE or not still needs to be verified by larger samples.
[Key words] Preeclampsia; Platelet glycoprotein receptor; Polymorphism; Genetic susceptibility
子癇前期(PE)是一种可遗传的妊娠特有内皮疾病，免疫不良、胎盘发育不足和滋养细胞浸润、胎盘缺血、氧化应激和血栓形成是PE发展的关键因素[1]。多种血栓形成风险的基因变异影响PE遗传易感性，包括纤溶酶原激活物抑制剂1型(PAI-1)基因启动子中的缺失/插入多态性[2]、FV Leiden突变和5、10亚甲基四氢叶酸还原酶(MTHFR)的C>T677多态性[3]。血小板糖蛋白Ⅱb/Ⅲa是纤维蛋白原和von Willebrand因子的膜受体[4]，其介导的血小板聚集和血栓形成在子痫前期的发生、发展及预后方面具有关键性调节作用。GPⅢa基因PLA1/A2多态性是由第2外显子的编码突变(98C>T)导致33Leu>Pro取代，从而在血小板上产生两种抗原性不同形式的成熟GPⅡb/Ⅲa抗原(PLA1和PLA2)。2001年在北欧白种人中首次报道GPⅢa 98T多态性的携带可能是子痫前期的未知危险因素[5]。但2003年一项基于南非黑人的研究显示PLA1/PLA2多态性并非子痫前期的病理病因的危险因素[6]。目前尚无PLA1/PLA2多态性与中国人群PE遗传易感性的相关性研究。因此本研究选取PE患者作为研究对象，将明确PLA1/PLA2多态性是否参与PE发病机制，为预警病情发展和基因水平治疗干预提供思路，现报道如下。, http://www.100md.com(程淑清 陈安儿)
[关键词] 子痫前期;血小板糖蛋白受体;多态性;遗传易感性
[中图分类号] R96 [文献标识码] A [文章编号] 1673-9701(2020)29-0020-04
[Abstract] Objective To explore the correlation between the PLA1/A2 polymorphism of the platelet glycoprotein Ⅲa receptor(GPⅢa) genes and genetic susceptibility with preeclampsia(PE). Methods A total of 120 patients with PE hospitalized in our hospital for delivery from September 2016 to September 2018 were selected as the PE group and 120 normal pregnant women were taken as the control group. Common risk indicators were collected through conventional detection and their differences between the PE group and the control group were compared. The technology of polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) was used to detect the PLA1/A2 polymorphism of GPⅢA， so as to analyze the correlation between PLA1/A2 polymorphism of GPⅢa and genetic susceptibility of the patients with PE. Results The genotype frequencies of A1/A1， A1/A2 and A2/A2 in the control group and the PE group were respectively 75.0%(90/120)， 23.3%(28/120)， 1.7%(2/120) and 70.0%(84/120)， 26.7%(32/120)， 3.3%(4/120)， and the differences were statistically insignificant(P>0.05). The allele frequencies of A1 and A2 in the control group and the PE group were respectively 76.3%(116/152)， 23.7%(36/152) and 79.7%(118/148)， 20.3%(30/148)， and the differences were statistically insignificant(P>0.05). Compared with genotype A1/A1， genotype A1/A2 and genotype A2/A2 had higher systolic and diastolic blood pressure， and the differences were statistically significant(P<0.001). Conclusion Whether PLA1/A2 polymorphism in Chinese population is related to the risk of PE or not still needs to be verified by larger samples.
[Key words] Preeclampsia; Platelet glycoprotein receptor; Polymorphism; Genetic susceptibility
子癇前期(PE)是一种可遗传的妊娠特有内皮疾病，免疫不良、胎盘发育不足和滋养细胞浸润、胎盘缺血、氧化应激和血栓形成是PE发展的关键因素[1]。多种血栓形成风险的基因变异影响PE遗传易感性，包括纤溶酶原激活物抑制剂1型(PAI-1)基因启动子中的缺失/插入多态性[2]、FV Leiden突变和5、10亚甲基四氢叶酸还原酶(MTHFR)的C>T677多态性[3]。血小板糖蛋白Ⅱb/Ⅲa是纤维蛋白原和von Willebrand因子的膜受体[4]，其介导的血小板聚集和血栓形成在子痫前期的发生、发展及预后方面具有关键性调节作用。GPⅢa基因PLA1/A2多态性是由第2外显子的编码突变(98C>T)导致33Leu>Pro取代，从而在血小板上产生两种抗原性不同形式的成熟GPⅡb/Ⅲa抗原(PLA1和PLA2)。2001年在北欧白种人中首次报道GPⅢa 98T多态性的携带可能是子痫前期的未知危险因素[5]。但2003年一项基于南非黑人的研究显示PLA1/PLA2多态性并非子痫前期的病理病因的危险因素[6]。目前尚无PLA1/PLA2多态性与中国人群PE遗传易感性的相关性研究。因此本研究选取PE患者作为研究对象，将明确PLA1/PLA2多态性是否参与PE发病机制，为预警病情发展和基因水平治疗干预提供思路，现报道如下。, http://www.100md.com(程淑清 陈安儿)