Wray Naomi R, Goddard Michael E, Visscher Peter M
Genetic Epidemiology and Queensland Statistical Genetics, Queensland Institute of Medical Research, Brisbane, Australia.
Curr Opin Genet Dev. 2008 Jun;18(3):257-63. doi: 10.1016/j.gde.2008.07.006. Epub 2008 Aug 28.
Most common diseases are caused by multiple genetic and environmental factors. In the last 2 years, genome-wide association studies (GWAS) have identified polymorphisms that are associated with risk to common disease, but the effect of any one risk allele is typically small. By combining information from many risk variants, will it be possible to predict accurately each individual person's genetic risk for a disease? In this review we consider the lessons from GWAS and the implications for genetic risk prediction to common disease. We conclude that with larger GWAS sample sizes or by combining studies, accurate prediction of genetic risk will be possible, even if the causal mutations or the mechanisms by which they affect susceptibility are unknown.
大多数常见疾病是由多种遗传和环境因素引起的。在过去两年中，全基因组关联研究（GWAS）已经确定了与常见疾病风险相关的多态性，但任何一个风险等位基因的影响通常都很小。通过整合来自多个风险变异的信息，是否有可能准确预测每个人患某种疾病的遗传风险？在这篇综述中，我们考虑了GWAS的经验教训以及对常见疾病遗传风险预测的影响。我们得出结论，通过更大的GWAS样本量或合并研究，即使致病突变或它们影响易感性的机制尚不清楚，准确预测遗传风险也是可能的。
