Department of Human Genetics, University of Chicago, IL 60637, USA.
Am J Hum Genet. 2010 Dec 10;87(6):829-33. doi: 10.1016/j.ajhg.2010.10.018. Epub 2010 Nov 25.
The International HapMap Project is a resource for researchers containing genotype, sequencing, and expression information for EBV-transformed lymphoblastoid cell lines derived from populations across the world. The expansion of the HapMap beyond the four initial populations of Phase 2, referred to as Phase 3, has increased the sample number and ethnic diversity available for investigation. However, differences in the rate of cellular proliferation between the populations can serve as confounders in phenotype-genotype studies using these cell lines. Within the Phase 2 populations, the JPT and CHB cell lines grow faster (p < 0.0001) than the CEU or YRI cell lines. Phase 3 YRI cell lines grow significantly slower than Phase 2 YRI lines (p < 0.0001), with no widespread genetic differences based on common SNPs. In addition, we found significant growth differences between the cell lines in the Phase 2 ASN populations and the Han Chinese from the Denver metropolitan area panel in Phase 3 (p < 0.0001). Therefore, studies that separate HapMap panels into discovery and replication sets must take this into consideration.
国际人类基因组单体型图计划是一个资源库,其中包含了来自世界各地人群的 EBV 转化的淋巴母细胞系的基因型、测序和表达信息。HapMap 的扩展超出了第二阶段的四个初始群体,称为第三阶段,增加了样本数量和可供研究的种族多样性。然而,这些细胞系中使用的表型-基因型研究中,细胞增殖率的差异可能成为混杂因素。在第二阶段的群体中,JPT 和 CHB 细胞系的生长速度比 CEU 或 YRI 细胞系快(p < 0.0001)。第三阶段的 YRI 细胞系的生长速度明显慢于第二阶段的 YRI 细胞系(p < 0.0001),没有基于常见单核苷酸多态性的广泛遗传差异。此外,我们发现第二阶段 ASN 群体中的细胞系与第三阶段丹佛大都市区面板中的汉族人之间存在显著的生长差异(p < 0.0001)。因此,将 HapMap 面板分为发现和复制集的研究必须考虑到这一点。