Finding the missing heritability of complex diseases.

Finding the missing heritability of complex diseases.
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DOI:
10.1038/nature08494
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发表时间:
2009-10-08
期刊:
影响因子:
64.8
通讯作者:
--
中科院分区:
综合性期刊1区
文献类型:
--
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全基因组关联研究已经确定了数百个与复杂的人类疾病和特征相关的遗传变异,并为它们的遗传结构提供了有价值的见解。到目前为止发现的大多数变异都会带来相对较小的风险增量,并且只解释了一小部分家族性聚集性,这导致许多人质疑如何解释剩余的“缺失”遗传性。在这里,我们研究遗漏遗传性的潜在来源,并提出研究战略,包括并延伸到目前的全基因组关联方法,以阐明复杂疾病的遗传学,并增强其实现有效疾病预防或治疗的潜力。
Genome-wide association studies have identified hundreds of genetic variants associated with complex human diseases and traits, and have provided valuable insights into their genetic architecture. Most variants identified so far confer relatively small increments in risk, and explain only a small proportion of familial clustering, leading many to question how the remaining, ‘missing’ heritability can be explained. Here we examine potential sources of missing heritability and propose research strategies, including and extending beyond current genome-wide association approaches, to illuminate the genetics of complex diseases and enhance its potential to enable effective disease prevention or treatment.
DOI: 10.1038/ng.292
发表时间: 2009-02
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影响因子: --
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