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The genetics of Alzheimer disease: back to the future.

机译：阿尔茨海默氏病的遗传学：可以追溯到未来。

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Three decades of genetic research in Alzheimer disease (AD) have substantially broadened our understanding of the pathogenetic mechanisms leading to neurodegeneration and dementia. Positional cloning led to the identification of rare, disease-causing mutations in APP, PSEN1, and PSEN2 causing early-onset familial AD, followed by the discovery of APOE as the single most important risk factor for late-onset AD. Recent genome-wide association approaches have delivered several additional AD susceptibility loci that are common in the general population, but exert only very small risk effects. As a result, a large proportion of the heritability of AD continues to remain unexplained by the currently known disease genes. It seems likely that much of this "missing heritability" may be accounted for by rare sequence variants, which, owing to recent advances in high-throughput sequencing technologies, can now be assessed in unprecedented detail.
机译：阿尔茨海默氏病（AD）的基因研究已经进行了三十年，大大拓宽了我们对导致神经变性和痴呆的致病机理的理解。位置克隆导致识别APP，PSEN1和PSEN2中罕见的，引起疾病的突变，从而引起家族性AD的早发，随后发现APOE是晚期AD的最重要的单一危险因素。最近的全基因组关联方法已经提供了几个普通人群中常见的其他AD易感基因座，但仅产生很小的风险影响。结果，目前已知的疾病基因仍无法解释AD的大部分遗传力。这种“缺失遗传力”的大部分似乎可能是由稀有序列变异引起的，由于高通量测序技术的最新进展，现在可以对其进行空前的详细评估。

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