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偏头痛:一种复杂的基因疾病。

Migraine: a complex genetic disorder.

作者信息

Wessman Maija, Terwindt Gisela M, Kaunisto Mari A, Palotie Aarno, Ophoff Roel A

机构信息

Folkhälsan Research Center, Helsinki, Finland.

出版信息

Lancet Neurol. 2007 Jun;6(6):521-32. doi: 10.1016/S1474-4422(07)70126-6.

Abstract

Although family and twin studies show that there is a genetic component to migraine, no genes predisposing to common forms of the disorder have been identified. The most encouraging findings have emerged from the identification of genes causing rare mendelian traits that phenotypically resemble migraine. These studies have pointed migraine research towards ion-transport genes; however, there is no direct evidence of the involvement of these genes in common forms of migraine. Family-based linkage studies have identified several chromosomal regions linked to common forms of migraine, but there is little consistency between studies. The modest success in the identification of contributing gene variants has stimulated research into more effective strategies. These include new phenotyping methods for genetic studies and new study designs-such as case-control and whole-genome association studies-to identify common variants contributing to the trait.

摘要

尽管家族研究和双生子研究表明偏头痛存在遗传因素,但尚未发现导致该疾病常见形式的致病基因。最令人鼓舞的发现来自于对那些表型类似偏头痛的罕见孟德尔性状致病基因的鉴定。这些研究将偏头痛研究指向了离子转运基因;然而,尚无直接证据表明这些基因参与了偏头痛的常见形式。基于家族的连锁研究已经确定了几个与偏头痛常见形式相关的染色体区域,但各研究之间几乎没有一致性。在鉴定致病基因变异方面取得的有限成功激发了对更有效策略的研究。这些策略包括用于遗传研究的新表型分析方法以及新的研究设计,如病例对照研究和全基因组关联研究,以识别导致该性状的常见变异。

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