血小板黏附综合征和流产患者中 GP6 调控区域的基因变异
Genetic variations of the GP6 regulatory region in patients with sticky platelet syndrome and miscarriage.
作者信息
Sokol Juraj, Skerenova Maria, Biringer Kamil, Lasabova Zora, Stasko Jan, Kubisz Peter
机构信息
a 1 Department of Hematology and Transfusiology, National Centre of Hemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollarova 2, 036 59 Martin, Slovakia.
b 2 Department of Clinical Biochemistry, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollarova 2, 036 59 Martin, Slovakia.
出版信息
Expert Rev Hematol. 2015 Dec;8(6):863-8. doi: 10.1586/17474086.2015.1083417. Epub 2015 Aug 25.
INTRODUCTION
Thrombophilia increases the risk of venous thrombosis during pregnancy and may predispose to gestational vascular complications.
OBJECTIVE
The aim of this study is to evaluate the variability of GP6 regulatory regions in a group of patients with platelet hyperaggregability manifested as miscarriage compared with control subjects.
METHODS
We examined 27 female patients with platelet hyperaggregability and history of spontaneous abortion and 42 healthy women. Platelet hyperaggregability was established by light transmission aggregometry. We also assessed eight SNPs within the GP6 gene.
RESULTS
We found a higher occurrence of three SNPs in patients with platelet hyperaggregability and history of miscarriage (rs1671152, rs1654433, rs1671215). The haplotype analysis showed a significant higher occurrence of two haplotypes (ACGG, CCGT).
CONCLUSIONS
Our results support the idea that genetic variability of GP6 regulatory regions can be associated with platelet hyperaggregability - a possible cause of miscarriage.
引言
血栓形成倾向会增加孕期静脉血栓形成的风险，并可能引发妊娠血管并发症。
目的
本研究旨在评估一组表现为流产的血小板高聚集性患者与对照受试者相比，GP6调控区域的变异性。
方法
我们检查了27名有血小板高聚集性和自然流产史的女性患者以及42名健康女性。通过光透射聚集法确定血小板高聚集性。我们还评估了GP6基因内的8个单核苷酸多态性。
结果
我们发现有血小板高聚集性和流产史的患者中，三个单核苷酸多态性（rs1671152、rs1654433、rs1671215）的发生率更高。单倍型分析显示两种单倍型（ACGG、CCGT）的发生率显著更高。
结论
我们的结果支持这样一种观点，即GP6调控区域的基因变异性可能与血小板高聚集性有关——这是流产的一个可能原因。
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