Nielsen Rasmus, Hellmann Ines, Hubisz Melissa, Bustamante Carlos, Clark Andrew G
Center for Comparative Genomics, University of Copenhagen, Universitetsparken 15, 2100 Kbh Ø, Denmark.
Nat Rev Genet. 2007 Nov;8(11):857-68. doi: 10.1038/nrg2187.
The recent availability of genome-scale genotyping data has led to the identification of regions of the human genome that seem to have been targeted by selection. These findings have increased our understanding of the evolutionary forces that affect the human genome, have augmented our knowledge of gene function and promise to increase our understanding of the genetic basis of disease. However, inferences of selection are challenged by several confounding factors, especially the complex demographic history of human populations, and concordance between studies is variable. Although such studies will always be associated with some uncertainty, steps can be taken to minimize the effects of confounding factors and improve our interpretation of their findings.
近期基因组规模基因分型数据的可得性,已促使人们识别出人类基因组中似乎受到选择作用的区域。这些发现增进了我们对影响人类基因组的进化力量的理解,扩充了我们对基因功能的认识,并有望加深我们对疾病遗传基础的理解。然而,选择推断受到若干混杂因素的挑战,尤其是人类群体复杂的人口统计学历史,而且不同研究之间的一致性存在差异。尽管此类研究总会存在一些不确定性,但可以采取措施将混杂因素的影响降至最低,并改进我们对其研究结果的解读。