Gu C Charles, Yu K, Ketkar S, Templeton Alan R, Rao D C
Division of Biostatistics, Washington University School of Medicine, St Louis, MO 63110, USA.
Genet Epidemiol. 2008 Feb;32(2):89-97. doi: 10.1002/gepi.20269.
The question of tagging single nucleotide polymorphism (tagSNP) transferability is an important one because many ongoing and upcoming Genome-Wide Association studies rely critically upon the validity, and practical feasibility of using a universal core set of tagSNPs. A series of recent studies analyzed performance of tagSNPs selected based on the HapMap. While these studies showed largely satisfactory transferability of the tagSNPs, they also reported that the level of transferability varies, substantively sometimes, especially when tagSNPs selected in one population were used in another distant population. We present a review of the literature about where and why tagSNP transferability may become a problem and suggest research directions that may help the resolution.
单核苷酸多态性(tagSNP)转移性的问题是一个重要问题,因为许多正在进行和即将开展的全基因组关联研究严重依赖于使用通用核心tagSNP集的有效性和实际可行性。最近的一系列研究分析了基于HapMap选择的tagSNP的性能。虽然这些研究在很大程度上显示了tagSNP具有令人满意的转移性,但他们也报告说转移性水平存在差异,有时差异很大,特别是当在一个群体中选择的tagSNP用于另一个遥远群体时。我们对关于tagSNP转移性可能在哪里以及为何会成为问题的文献进行了综述,并提出了可能有助于解决该问题的研究方向。