Laboratory of Genetics and Molecular Cardiology, Heart Institute, Medical School of University of Sao Paulo, Sao Paulo, Brazil.
Eur J Hum Genet. 2012 Jan;20(1):111-6. doi: 10.1038/ejhg.2011.144. Epub 2011 Aug 24.
Advances in genotyping technologies have contributed to a better understanding of human population genetic structure and improved the analysis of association studies. To analyze patterns of human genetic variation in Brazil, we used SNP data from 1129 individuals--138 from the urban population of Sao Paulo, Brazil, and 991 from 11 populations of the HapMap Project. Principal components analysis was performed on the SNPs common to these populations, to identify the composition and the number of SNPs needed to capture the genetic variation of them. Both admixture and local ancestry inference were performed in individuals of the Brazilian sample. Individuals from the Brazilian sample fell between Europeans, Mexicans, and Africans. Brazilians are suggested to have the highest internal genetic variation of sampled populations. Our results indicate, as expected, that the Brazilian sample analyzed descend from Amerindians, African, and/or European ancestors, but intermarriage between individuals of different ethnic origin had an important role in generating the broad genetic variation observed in the present-day population. The data support the notion that the Brazilian population, due to its high degree of admixture, can provide a valuable resource for strategies aiming at using admixture as a tool for mapping complex traits in humans.
基因分型技术的进步有助于更好地了解人类群体遗传结构,并改进关联研究的分析。为了分析巴西人类遗传变异的模式,我们使用了来自 1129 个人的数据,包括来自巴西圣保罗市的 138 人和 HapMap 项目的 991 人。对这些人群中常见的 SNP 进行主成分分析,以确定捕获它们遗传变异所需的 SNP 组成和数量。对巴西样本中的个体进行了混合和局部亲缘关系推断。巴西样本中的个体位于欧洲人、墨西哥人和非洲人之间。巴西人被认为具有抽样人群中最高的内部遗传变异。我们的结果表明,正如预期的那样,分析的巴西样本来自美洲印第安人、非洲人和/或欧洲祖先,但不同族裔个体之间的通婚在产生当今人口中观察到的广泛遗传变异方面发挥了重要作用。这些数据支持了这样一种观点,即由于高度混合,巴西人口可以为利用混合作为人类复杂特征图谱绘制工具的策略提供宝贵的资源。