UNC Institute for Pharmacogenomics and Individualized Therapy, University of North Carolina, Chapel Hill, NC, USA.
Pharmacogenomics J. 2009 Dec;9(6):373-9. doi: 10.1038/tpj.2009.28. Epub 2009 Jun 23.
It has been well established that the frequencies of genomic variants can vary greatly between the populations of different countries. We sought to quantify the intra-population variability in Ghana to determine the value of genotyping studies done at a nationwide level. Further, we investigated the differences between the Ghanaian and other African populations to determine the quality of genomic representation provided by a small subgroup within the continent with regard to the general population. We genotyped 934 unrelated Ghanaian individuals for 15 single nucleotide polymorphisms (SNPs) from genes defined as clinically relevant based on their reported roles in the transport of, metabolism of, or as targets of the medicines listed in the World Health Organization Essential Medicines list. Populations within Ghana and between nations in Western Africa were genetically cohesive. In contrast, populations in other areas of Africa were genetically divergent. Gene allele frequency also differed significantly between the populations in African nations and the United States for several of the SNPs. These results demonstrate that national populations in similar geographic regions, like Africa, may have widely varying genetic allele frequencies for clinically relevant SNPs. Further genotyping studies of specific populations are necessary to provide the best medical care to all individuals.
已经证实,不同国家的人群之间基因组变异的频率差异很大。我们试图量化加纳国内的人群内变异性,以确定在全国范围内进行基因分型研究的价值。此外,我们还研究了加纳人与其他非洲人群之间的差异,以确定非洲大陆内一小部分人群相对于一般人群在基因组代表性方面的质量。我们对 934 名无亲缘关系的加纳个体进行了 15 个单核苷酸多态性(SNP)的基因分型,这些基因是根据其在世界卫生组织基本药物清单中列出的药物的运输、代谢或作为靶点的报告作用而被定义为具有临床意义的。加纳国内和西非国家之间的人群在遗传上是凝聚的。相比之下,非洲其他地区的人群在遗传上是离散的。对于几个 SNP,非洲国家和美国的人群之间的基因等位基因频率也存在显著差异。这些结果表明,在相似地理区域(如非洲)的国家人口可能具有广泛的临床相关 SNP 的基因等位基因频率差异。进一步对特定人群进行基因分型研究对于为所有个体提供最佳医疗保健是必要的。