偏头痛的遗传学研究进展  

Progress in the genetics of migraine

作　　者：徐菲 刘儒昶 王天云 郭淮莲[1,4] XU Fei;LIU Ruchang;WANG Tianyun;GUO Huailian(Department of Neurology,Peking University People's Hospital,Beijing 100044,China;Department of Physiology and Pathophysiology,School of Basic Medical Sciences,Peking University,Beijing 100191,China;Department of Medical Genetics,School of Basic Medical Sciences,Peking University,Beijing 100191,China;Key Laboratory of Neuroscience Ministry of Education/National Health Commission of the People's Republic of China,Peking University,Beijing 100191,China)

机构地区：[1]北京大学人民医院神经内科,北京100044 [2]北京大学基础医学院生理学与病理生理学系,北京100191 [3]北京大学基础医学院医学遗传学系,北京100191 [4]北京大学教育部/国家卫生健康委员会神经科学重点实验室,北京100191

出　　处：《中国疼痛医学杂志》2024年第1期52-56,共5页Chinese Journal of Pain Medicine

摘　　要：偏头痛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。Migraine,a kind of primary headache,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,associa-tion studies and sequencing studies of MA,MO,MM,and VM 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.

关 键 词：偏头痛 家族性偏瘫型偏头痛 月经性偏头痛 高通量测序 遗传位点 

分 类 号：R747.2[医药卫生—神经病学与精神病学]