偏头痛的遗传学研究进展

Progress in the genetics of migraine

摘要:

偏头痛（migraine）是一种常见的原发性头痛，临床表现多样，亚型众多。除家族性偏瘫型偏头痛（familial hemiplegic migraine , FHM）已发现明确致病基因外，无先兆偏头痛（migraine without aura, MO）有先兆偏头痛（migraine with aura, MA）和其他类型如月经性偏头痛（menstrual migraine, MM）、前庭性偏头痛（vestibular migraine, VM）的遗传基础尚未完全明确。本文通过回顾偏头痛及各亚型的连锁研究、关联研究及测序研究，总结其遗传学发现，并讨论各个亚型的特点。偏头痛不同亚型的遗传位点极少重叠，未来针对表型一致性高的亚型进行研究并结合组学信息有望明确致病基因。

Abstract:

Migraine, a type of primary headache disease, has a broad spectrum of clinical manifestations and thus a wide range of subtypes. Apart from familial hemiplegic migraine (FHM), the most common forms of migraine (migraine with aura and without aura, MA and MO) as well as menstrual migraine (MM) and vestibular migraine (VM) patients often cluster in families, but the genetics is still not clear. In this article, linkage studies, association studies and sequencing studies of MA, MO and MM are reviewed, genetic findings are summarized, and genetic characterization of each subtype is discussed. Various subtypes of migraine share little genetic loci, so it needs future genetic studies to include participants with high homogeneity in clinical phenotypes as well as integrate other omics information to identify causal genes of migraine.