Genetics of migraine: An update
Genetics of migraine: An update
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DOI：
10.1111/j.1526-4610.2006.00486.x
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发表时间：
2006-06-01
期刊：
影响因子：
5
通讯作者：
Gardner, Kathy L.
中科院分区：
文献类型：
--
作者：
Gardner, Kathy L.
包括长期公认的偏头痛在家族中传播的趋势，在一起或分开抚养的双胞胎中偏头痛的高符合率，以及特定突变与一种罕见的偏头痛形式的关联，这些观察结果与这种疾病的基因贡献是一致的。本文综述了迄今为止偏头痛遗传学方面的主要发现。偏头痛，特别是常见形式偏头痛的遗传性研究面临着一些挑战，包括缺乏易于测量的生物标志物，偏头痛类型之间的病因和临床重叠的不确定性，以及环境和遗传因素在确定偏头痛表型方面明显复杂的相互作用。尽管如此，近年来已经取得了重大进展。家族性偏瘫偏头痛是一种罕见的偏头痛变种，它似乎是通过孟德尔常染色体显性遗传模式传播的，涉及至少2个基因的突变。这些基因似乎并不与其他形式的偏头痛密切相关；然而，在最近的全基因组筛查和候选基因座研究中，已经确定了其他几个更常见形式的偏头痛的易感基因。这些和其他数据表明，偏头痛的遗传因素是复杂的、多因素的，并受到环境因素的显著影响。
Observations including the long-recognized tendency of migraine to run in families, the high concordance rates for migraine in twins reared together or apart, and the association of specific mutations with a rare migraine form are consistent with a genetic contribution to the disorder. This paper summarizes major findings to date on the genetics of migraine. Study of the heritability of migraine, particularly the common forms of migraine, is beset by several challenges including the absence of easily measurable biological markers, uncertainty about the etiologic and clinical overlap among migraine types, and the apparently complex interplay of environmental and genetic factors in determining migraine phenotype. Nevertheless, significant progress has been realized in recent years. Familial hemiplegic migraine, a rare migraine variant, appears to be transmitted by a Mendelian, autosomal dominant mode of inheritance involving mutations in at least 2 genes. These genes do not seem to be critically involved in the other forms of migraine; however, several other susceptibility loci for more common forms of migraine have been identified in recent genome-wide screens and candidate-locus studies. These and other data suggest that the genetic contribution to migraine is complex, multifactorial, and subject to significant modification by environmental factors.