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首页> 外文期刊>Journal of epidemiology / >Genetic heterogeneity of self-reported ancestry groups in an admixed Brazilian population.
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Genetic heterogeneity of self-reported ancestry groups in an admixed Brazilian population.

机译：自我报告的祖先群体在混杂的巴西人口中的遗传异质性。

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BACKGROUND: Population stratification is the main source of spurious results and poor reproducibility in genetic association findings. Population heterogeneity can be controlled for by grouping individuals in ethnic clusters; however, in admixed populations, there is evidence that such proxies do not provide efficient stratification control. The aim of this study was to evaluate the relation of self-reported with genetic ancestry and the statistical risk of grouping an admixed sample based on self-reported ancestry. METHODS: A questionnaire that included an item on self-reported ancestry was completed by 189 female volunteers from an admixed Brazilian population. Individual genetic ancestry was then determined by genotyping ancestry informative markers. RESULTS: Self-reported ancestry was classified as white, intermediate, and black. The mean difference among self-reported groups was significant for European and African, but not Amerindian, genetic ancestry. Pairwise fixation index analysis revealed a significant difference among groups. However, the increase in the chance of type 1 error was estimated to be 14%. CONCLUSIONS: Self-reporting of ancestry was not an appropriate methodology to cluster groups in a Brazilian population, due to high variance at the individual level. Ancestry informative markers are more useful for quantitative measurement of biological ancestry.
机译：背景：人群分层是虚假结果和遗传协会发现中可重复性差的主要来源。可以通过对族群内的个体进行分组来控制人口异质性。但是，在混合人群中，有证据表明此类代理无法提供有效的分层控制。这项研究的目的是评估自我报告与遗传血统的关系以及基于自我报告血统对混合样本进行分组的统计风险。方法：189名来自巴西混血儿的女性志愿者完成了一份包括自我报告血统的问卷。然后通过基因型祖先信息标记确定个体遗传祖先。结果：自我报告的血统被分类为白色，中间和黑色。自我报告的人群之间的平均差异对于欧洲和非洲而言是显着的，但在美洲印第安人的遗传血统中却没有。配对注视指数分析显示各组之间存在显着差异。但是，估计类型1错误的机会增加了14％。结论：由于个体水平的高差异性，自我报告血统是不适合在巴西人口中对群体进行分组的方法。祖先信息标记对于生物祖先的定量测量更有用。

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