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偏头痛与血小板黏附综合征患者的选择及基因多态性

Selected and Gene Polymorphisms in Patients with Migraine and Sticky Platelet Syndrome.

作者信息

Simurda Tomas, Belakova Kristina Maria, Stasko Jan, Skerenova Maria, Ivankova Jela, Drotarova Miroslava, Brunclikova Monika, Stanciakova Lucia, Skornova Ingrid, Sokol Juraj

机构信息

Department of Hematology and Transfusiology, National Centre of Hemostasis and Thrombosis, Comenius University in Bratislava, Jessenius Faculty of Medicine and University Hospital in Martin, Martin, Slovakia.

Department of Clinical Biochemistry, Comenius University in Bratislava, Jessenius Faculty of Medicine and University Hospital in Martin, Martin, Slovakia.

出版信息

Clin Appl Thromb Hemost. 2025 Jan-Dec;31:10760296251362723. doi: 10.1177/10760296251362723. Epub 2025 Jul 22.

Abstract

One of the most common clinical manifestations of inherited platelet hyperaggregability also known as sticky platelet syndrome (SPS) is migraine. The aim of this study was to assess the role of single nucleotide polymorphisms (SNPs) of platelet endothelial aggregation receptor 1 () and murine retrovirus integration site 1 () genes in pathogenesis of SPS associated with migraine. Hundred patients with SPS and migraine as well as two hundred and seven patients with SPS and without migraine as a control group were enrolled. SPS was diagnosed by light transmission aggregometry (LTA) according to the method and criteria described by Mammen and Bick. Two SNPs within gene (rs12041331 and rs12566888) and two SNPs within gene (rs7940646 and rs1874445) were assessed using High resolution melting (HRM) analysis. Minor allele frequencies for both SNPs within and in patients with SPS and history of migraine as well as haplotypes did not significantly differ compared to the SPS control group. The study also suggests SPS as a complex interaction of several genes resulting in possible polygenic phenotype of migraine in SPS patients.

摘要

遗传性血小板高聚集性(也称为粘性血小板综合征,SPS)最常见的临床表现之一是偏头痛。本研究的目的是评估血小板内皮聚集受体1()和鼠类逆转录病毒整合位点1()基因的单核苷酸多态性(SNP)在与偏头痛相关的SPS发病机制中的作用。招募了100例患有SPS和偏头痛的患者以及207例患有SPS但无偏头痛的患者作为对照组。根据Mammen和Bick描述的方法和标准,通过光透射聚集测定法(LTA)诊断SPS。使用高分辨率熔解(HRM)分析评估基因内的两个SNP(rs12041331和rs12566888)以及基因内的两个SNP(rs7940646和rs1874445)。与SPS对照组相比,患有SPS和偏头痛病史的患者中基因内和基因内两个SNP的次要等位基因频率以及单倍型均无显著差异。该研究还表明,SPS是几种基因的复杂相互作用,可能导致SPS患者出现偏头痛的多基因表型。

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