Hirschhorn Joel N, Daly Mark J
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA.
Nat Rev Genet. 2005 Feb;6(2):95-108. doi: 10.1038/nrg1521.
Genetic factors strongly affect susceptibility to common diseases and also influence disease-related quantitative traits. Identifying the relevant genes has been difficult, in part because each causal gene only makes a small contribution to overall heritability. Genetic association studies offer a potentially powerful approach for mapping causal genes with modest effects, but are limited because only a small number of genes can be studied at a time. Genome-wide association studies will soon become possible, and could open new frontiers in our understanding and treatment of disease. However, the execution and analysis of such studies will require great care.
遗传因素强烈影响对常见疾病的易感性，也影响与疾病相关的数量性状。识别相关基因一直很困难，部分原因是每个致病基因对总体遗传率的贡献都很小。遗传关联研究为定位具有适度效应的致病基因提供了一种潜在的有力方法，但存在局限性，因为一次只能研究少数基因。全基因组关联研究很快将成为可能，并可能在我们对疾病的理解和治疗方面开辟新的领域。然而，此类研究的实施和分析需要格外谨慎。
