Fiorito Giovanni, Di Gaetano Cornelia, Guarrera Simonetta, Rosa Fabio, Feldman Marcus W, Piazza Alberto, Matullo Giuseppe
Department of Medical Sciences, University of Turin, Turin, Italy.
HuGeF Human Genetics Foundation, Turin, Italy.
Eur J Hum Genet. 2016 Jul;24(7):1056-62. doi: 10.1038/ejhg.2015.233. Epub 2015 Nov 11.
Recent scientific literature has highlighted the relevance of population genetic studies both for disease association mapping in admixed populations and for understanding the history of human migrations. Deeper insight into the history of the Italian population is critical for understanding the peopling of Europe. Because of its crucial position at the centre of the Mediterranean basin, the Italian peninsula has experienced a complex history of colonization and migration whose genetic signatures are still present in contemporary Italians. In this study, we investigated genomic variation in the Italian population using 2.5 million single-nucleotide polymorphisms in a sample of more than 300 unrelated Italian subjects with well-defined geographical origins. We combined several analytical approaches to interpret genome-wide data on 1272 individuals from European, Middle Eastern, and North African populations. We detected three major ancestral components contributing different proportions across the Italian peninsula, and signatures of continuous gene flow within Italy, which have produced remarkable genetic variability among contemporary Italians. In addition, we have extracted novel details about the Italian population's ancestry, identifying the genetic signatures of major historical events in Europe and the Mediterranean basin from the Neolithic (e.g., peopling of Sardinia) to recent times (e.g., 'barbarian invasion' of Northern and Central Italy). These results are valuable for further genetic, epidemiological and forensic studies in Italy and in Europe.
近期的科学文献强调了群体遗传学研究对于混合群体中疾病关联图谱绘制以及理解人类迁徙历史的重要性。深入了解意大利人群的历史对于理解欧洲的人口构成至关重要。由于意大利半岛在地中海盆地中心的关键位置,其经历了复杂的殖民和迁徙历史,这些遗传印记至今仍存在于当代意大利人身上。在本研究中,我们使用超过300名具有明确地理来源的无关意大利受试者样本中的250万个单核苷酸多态性,对意大利人群的基因组变异进行了研究。我们结合了多种分析方法来解读来自欧洲、中东和北非人群的1272名个体的全基因组数据。我们检测到三个主要祖先成分在意大利半岛各地贡献了不同比例,以及意大利境内持续基因流动的特征,这在当代意大利人之间产生了显著的遗传变异性。此外,我们提取了关于意大利人群祖先的新细节,确定了从新石器时代(如撒丁岛的人口构成)到近代(如意大利北部和中部的“蛮族入侵”)欧洲和地中海盆地主要历史事件的遗传印记。这些结果对于意大利和欧洲进一步的遗传学、流行病学和法医学研究具有重要价值。