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CEPH individuals are representative of the European American population: implications for pharmacogenetics.

机译:CEPH个人代表了欧洲人口:对药物遗传学的影响。

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Previous studies have highlighted the use of phenotype generation in immortalized lymphoblastoid cells from the Centre d'Etude du Polymorphisme Humain (CEPH) pedigrees as a powerful means of discovering genes involved in complex biological and pharmacological phenotypes. However, there is no data on how representative CEPH pedigrees are of the general population of European origin for genetic variants of pharmacogenetic significance. A vast amount of data in a population of restricted applicability would be of little value. Genotype and allele frequencies of 28 variants in 15pharmacogenetically relevant genes were analyzed in germ-line DNA from European- and African-origin blood donors, and CEPH cell lines of European origin. The results demonstrate that allele frequencies for the 28 polymorphisms are highly similar between the CEPH and the European-origin populations. However, genotype frequencies in the CEPH population did not provide a high level of prediction for the African-origin population. These data support the usefulness of the CEPH panel in pharmacogenetic discovery efforts for European-derived populations.
机译:先前的研究强调了使用表型生成技术在Human d'Etude du多态性研究中心(CEPH)谱系的永生化淋巴母细胞中的应用,作为发现涉及复杂生物学和药理学表型的基因的有力手段。但是,没有关于具有代表性的CEPH谱系在欧洲范围内具有遗传遗传学意义的遗传变异的一般人口的数据。有限的适用性中的大量数据将毫无价值。在来自欧洲和非洲血统献血者的生殖系DNA和欧洲起源的CEPH细胞系中,分析了15个遗传遗传学相关基因中28个变体的基因型和等位基因频率。结果表明,CEPH与欧洲血统人群的28个多态性的等位基因频率非常相似。然而,CEPH人群中的基因型频率并未为非洲裔人群提供高水平的预测。这些数据支持CEPH专家组在欧洲人群的药物遗传学发现工作中的有用性。

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