Department of Hematology and Transfusion Medicine, National Center of Hemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia.
Department of Biochemistry, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia.
Clin Appl Thromb Hemost. 2018 Dec;24(9_suppl):202S-208S. doi: 10.1177/1076029618802358. Epub 2018 Oct 2.
The aim of our study was to evaluate GP6 gene in patients with sticky platelet syndrome (SPS) and fetal loss. Platelet aggregability was tested with platelet-rich plasma using PACKS-4 aggregometer (Helena Laboratories). High-resolution melting analysis on LightCycler 480 II (Roche Diagnostics) was used for single-nucleotide polymorphism (SNP) genotyping. We examined 64 patients with SPS and 54 control participants. We found significantly higher occurrence of 5 SNPs in patients with SPS versus controls (rs1671152, rs1654433, rs1613662, rs1654416, and rs2304167). Moreover, the haplotype analysis showed a significantly higher occurrence of 7 haplotypes in patients with SPS compared to controls (acgg and aagg in GP6_5reg haplotype; ccgt in GP6_3reg haplotype; gg and ta in GP6_REG haplotype; SKTH and PEAN in GP6_PEAN haplotype). Our results, especially higher occurrence of 4 nonsynonymous variants within the coding region, support the idea that GP6 polymorphisms are associated with the platelet hyperaggregability accompanied by fetal loss.
我们的研究目的是评估黏附性血小板综合征(SPS)和胎儿丢失患者的 GP6 基因。使用血小板富血浆和 PACKS-4 聚集仪(Helena Laboratories)测试血小板聚集能力。使用 LightCycler 480 II(罗氏诊断)进行单核苷酸多态性(SNP)基因分型的高分辨率熔解分析。我们检查了 64 名 SPS 患者和 54 名对照参与者。我们发现 SPS 患者中 5 个 SNP 的发生明显高于对照组(rs1671152、rs1654433、rs1613662、rs1654416 和 rs2304167)。此外,单体型分析显示 SPS 患者中 7 种单体型的发生明显高于对照组(GP6_5reg 单体型中的 acgg 和 aagg;GP6_3reg 单体型中的 ccgt;GP6_REG 单体型中的 gg 和 ta;GP6_PEAN 单体型中的 SKTH 和 PEAN)。我们的研究结果,尤其是编码区 4 个非同义变异的发生频率较高,支持 GP6 多态性与血小板高聚集性和胎儿丢失相关的观点。