Lango H, Weedon M N
Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK.
J Intern Med. 2008 Jan;263(1):16-27. doi: 10.1111/j.1365-2796.2007.01895.x.
In the developed world the majority of disease results from common, but complex disorders such as diabetes, obesity and cancer. Genetic variation explains a large proportion of an individual's risk of developing these diseases; however, success in identifying the particular gene variants involved has been limited. Recent advances in high-throughput genotyping technology, and a better understanding of the genetic architecture of complex disease has led to the development of genome-wide association studies (GWA), which are providing novel and important insights into disease processes. The results from these studies could be of substantial clinical importance in the relatively near future. In this review, we present some recent, exciting findings from studies that have used the GWA approach, and discuss the clinical application of identifying disease susceptibility genes and variants.
在发达国家，大多数疾病是由常见但复杂的病症引起的，如糖尿病、肥胖症和癌症。基因变异在很大程度上解释了个体患这些疾病的风险；然而，在确定具体相关基因变异方面取得的成功有限。高通量基因分型技术的最新进展以及对复杂疾病遗传结构的更好理解，催生了全基因组关联研究（GWA），该研究正在为疾病过程提供新颖且重要的见解。这些研究结果在相对不久的将来可能具有重大临床意义。在本综述中，我们展示了一些使用GWA方法的研究中近期令人兴奋的发现，并讨论了识别疾病易感基因和变异的临床应用。
