Ulrich V, Russell M B, Ostergaard S, Olesen J
Department of Neurology, Glostrup Hospital, University of Copenhagen, Denmark.
Am J Med Genet. 1997 Jul 25;74(4):395-7. doi: 10.1002/(sici)1096-8628(19970725)74:4<395::aid-ajmg10>3.0.co;2-d.
We analyzed 31 families selected for an apparently autosomal-dominant mode of inheritance of migraine with aura (MA) in the nuclear family. The nuclear families were expanded with first- and second-degree relatives. All interviews were made by physicians experienced in headache diagnoses. The criteria of the International Headache Society were used. The population relative risk among children in nuclear families was similar to the estimated population relative risk of MA assuming an autosomal-dominant mode of inheritance. The population relative risk tended to decrease among first-degree relatives outside nuclear families and further among second-degree relatives. Both first- and second-degree relatives outside the nuclear families had a statistically significant lower risk of MA than expected. Thus, autosomal-dominant inheritance with or without reduced penetrance was unlikely. Autosomal-recessive inheritance was unlikely because of the unequal sex distribution. Other modes of inheritance were considered as well. Mitochondrial and X-linked inheritance were excluded because of paternal transmission. The female preponderance was too low to explain sex-influenced inheritance. We conclude that MA most likely has a multifactorial inheritance even in high-risk families with MA.
我们分析了31个核心家庭，这些家庭因偏头痛伴先兆（MA）呈现明显的常染色体显性遗传模式而被选中。核心家庭通过一级和二级亲属进行了扩展。所有访谈均由头痛诊断经验丰富的医生进行。采用了国际头痛协会的标准。核心家庭中儿童的人群相对风险与假设常染色体显性遗传模式下MA的估计人群相对风险相似。在核心家庭之外的一级亲属中，人群相对风险趋于降低，在二级亲属中进一步降低。核心家庭之外的一级和二级亲属患MA的风险在统计学上均显著低于预期。因此，常染色体显性遗传无论是否有降低的外显率都不太可能。由于性别分布不均，常染色体隐性遗传也不太可能。也考虑了其他遗传模式。由于存在父系遗传，线粒体遗传和X连锁遗传被排除。女性优势比例过低，无法解释性别影响遗传。我们得出结论，即使在患有MA的高风险家庭中，MA很可能具有多因素遗传。
