PDF(Pubmed)
Abstract：
El Hierro is the smallest and westernmost island of the Canary Islands, whose population derives from an admixture of different ancestral components and that has been subjected to genetic isolation. We established the \"El Hierro Genome Study\" to characterize the health status and the genetic composition of ~10% of the current population of the island, accounting for a total of 1054 participants. Detailed demographic and clinical data and a blood sample for DNA extraction were obtained from each participant. Genomic genotyping was performed with the Global Screening Array (Illumina). The genetic composition of El Hierro was analyzed in a subset of 416 unrelated individuals by characterizing the mitochondrial DNA (mtDNA) and Y-chromosome haplogroups and performing principal component analyses (PCAs). In order to explore signatures of isolation, runs of homozygosity (ROHs) were also estimated. Among the participants, high blood pressure, hypercholesterolemia, and diabetes were the most prevalent conditions. The most common mtDNA haplogroups observed were of North African indigenous origin, while the Y-chromosome ones were mainly European. The PCA showed that the El Hierro population clusters near 1000 Genomes\' European population but with a shift toward African populations. Moreover, the ROH analysis revealed some individuals with an important portion of their genomes with ROHs exceeding 400 Mb. Overall, these results confirmed that the \"El Hierro Genome\" cohort offers an opportunity to study the genetic basis of several diseases in an unexplored isolated population.
摘要：
ElHierro是加那利群岛最小最西端的岛屿,其种群来自不同祖先成分的混合物，并经过遗传隔离。我们建立了“ElHierro基因组研究”，以表征该岛当前人口的健康状况和遗传组成约10％，共1054名参与者。从每个参与者获得详细的人口统计学和临床数据以及用于DNA提取的血液样本。用全局筛选阵列(Illumina)进行基因组基因分型。通过表征线粒体DNA（mtDNA）和Y染色体单倍群并进行主成分分析（PCA），在416个无关个体的子集中分析了ElHierro的遗传组成。为了探索隔离的特征，还估计了纯合性(ROHs)的运行。在参与者中，高血压,高胆固醇血症,糖尿病是最普遍的疾病。观察到的最常见的mtDNA单倍群来自北非土著，而Y染色体主要是欧洲的。PCA显示，ElHierro种群聚集在1000个基因组附近的欧洲种群，但向非洲种群转移。此外，ROH分析显示，一些个体的基因组中有重要部分的ROH超过400Mb。总的来说,这些结果证实，“ElHierro基因组”队列为研究未开发的孤立人群中几种疾病的遗传基础提供了机会。
