摘要
偏头痛是一种常见的慢性神经血管疾病,由遗传和环境危险因素之间的复杂相互作用引起。在过去的二十年中,对偏头痛的分子遗传学进行了深入研究。在少数情况下,偏头痛以单基因疾病的形式传播,疾病表型与不同基因(如CACNA1A,ATP1A2,SCN1A,KCNK18和NOTCH3)中的突变共聚。在偏头痛的常见形式中,候选基因以及全基因组关联研究表明,大量遗传变异可能会增加发生偏头痛的风险。目前,很少有研究调查偏头痛患者的基因型与表型的相关性。这篇综述的目的是讨论最近的研究,这些研究调查了不同遗传变异与偏头痛临床特征之间的关系。偏头痛的基因型-表型相关性分析受多个混杂因素的影响,迄今为止,仅MTHFR基因的多态性已显示对偏头痛表型有影响。需要额外的基因组研究和网络分析来阐明偏头痛及其临床表型的复杂途径。
关键词: 偏头痛,基因,CACNA1A,ATP1A2,SCN1A,KCNK18。
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