Persico A M, Verdecchia M, Pinzone V, Guidetti V
Child and Adolescent Neuropsychiatry Unit, and Laboratory of Molecular Psychiatry and Neurogenetics, University "Campus Bio-Medico", Via Alvaro del Portillo 21, 00128, Rome, Italy,
Neurogenetics. 2015 Apr;16(2):77-95. doi: 10.1007/s10048-014-0433-x. Epub 2014 Dec 14.
In the last two decades, migraine research has greatly advanced our current knowledge of the genetic contributions and the pathophysiology of this common and debilitating disorder. Nonetheless, this knowledge still needs to grow further and to translate into more effective treatments. To date, several genes involved in syndromic and monogenic forms of migraine have been identified, allowing the generation of animal models which have significantly contributed to current knowledge of the mechanisms underlying these rare forms of migraine. Common forms of migraine are instead posing a greater challenge, as they may most often stem from complex interactions between multiple common genetic variants, with environmental triggers. This paper reviews our current understanding of migraine genetics, moving from syndromic and monogenic forms to oligogenic/polygenic migraines most recently addressed with some success through genome-wide association studies. Methodological issues in study design and future perspectives opened by biomarker research will also be briefly addressed.
在过去二十年中，偏头痛研究极大地推进了我们目前对这种常见且使人衰弱的疾病的遗传因素和病理生理学的认识。尽管如此，这方面的知识仍需进一步拓展，并转化为更有效的治疗方法。迄今为止，已经确定了几种与综合征性和单基因形式的偏头痛相关的基因，这使得能够建立动物模型，这些模型对目前关于这些罕见形式偏头痛的潜在机制的认识做出了重大贡献。相反，常见形式的偏头痛带来了更大的挑战，因为它们通常可能源于多个常见基因变异与环境触发因素之间的复杂相互作用。本文回顾了我们目前对偏头痛遗传学的理解，从综合征性和单基因形式到最近通过全基因组关联研究取得一定成功的寡基因/多基因偏头痛。还将简要讨论研究设计中的方法学问题以及生物标志物研究带来的未来前景。
