Since prehistoric times, Italy has represented a bridge between peoples, genes and cultures. Its peculiar geographical position explains why: it is located in the center of the Mediterranean Sea, flanked by the Balkans and the Hellenic Peninsula to the east, Iberia to the west and surrounded by North Africa to the south and central Europe to the north. This makes Italy of extraordinary interest for the study of some different aspects of human diversity. Here we overview current knowledge regarding the relationships between the structure of the genetic variation of Italian populations and the geographical, ecological and cultural factors that have characterized their evolutionary history. Human presence in Italian territory is deeply rooted in the past. Lithic artifacts produced by the genus Homo and remains of Homo sapiens are among the earliest to have been found on the continent, as shown by the lithic industry of Pirro Nord (between 1.3 and 1.6 Mya) and the dental remains of the "Grotta del Cavallo" (between 45 and 43 Kya). Genetic and genomic studies relating to existing and extinct human groups have shed light on the migrations from Europe, Africa and Asia that created the ancient layers of the genetic structure of today's Italian populations, especially before the Iron Age. The important role of isolation (genetic and cultural) in shaping genetic structure is clearly visible in the patterns of intra- and inter-population diversity observed among Italian ethno-linguistic minorities that settled on the peninsula and on the major islands until the 19th century. Finally, selective pressures have likely driven the distribution of originally adaptive variants and haplotypes that now confer protection or susceptibility to major diseases such as diabetes and cardiovascular disease (in northern Italy) and tuberculosis and leprosy (in the south). What emerges is a picture where the combined effects of migration, isolation and natural selection generated by the interplay of geography, environment and culture have shaped a complex pattern of human diversity that is unique in Europe and which goes hand in hand with today's rich animal and plant biodiversity. In a nutshell, scientific evidence and cultural heritage paint Italy as a place with extremely diverse environments where distant peoples have met since the deep past, bringing and sharing genes and ideas.

中文翻译：

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从阿尔卑斯山到地中海及更远的地方：遗传学、环境、文化和意大利“不可思议的美丽”。

自史前时代以来，意大利一直是民族、基因和文化之间的桥梁。其特殊的地理位置解释了原因：它位于地中海中心，东接巴尔干半岛和希腊半岛，西接伊比利亚半岛，南接北非，北接中欧。这使得意大利对研究人类多样性的某些不同方面产生了极大的兴趣。在这里，我们概述了有关意大利人口遗传变异结构与具有其进化历史特征的地理、生态和文化因素之间关系的当前知识。人类在意大利领土上的存在深深植根于过去。由 Homo 属和 Homo sapiens 遗骸生产的石器制品是该大陆上最早发现的石器制品之一，如 Pirro Nord（1.3 至 1.6 Mya 之间）的石器工业和“Grotta del Cavallo”的牙齿遗迹所示"（介于 45 和 43 Kya 之间）。与现有和已灭绝人类群体相关的遗传和基因组研究揭示了来自欧洲、非洲和亚洲的迁徙，这些迁徙创造了当今意大利人口遗传结构的古老层次，尤其是在铁器时代之前。隔离（遗传和文化）在塑造遗传结构中的重要作用在 19 世纪之前定居在半岛和主要岛屿上的意大利民族语言少数群体中观察到的种群内和种群间多样性模式中清晰可见。最后，选择压力可能推动了最初适应性变异和单倍型的分布，这些变异和单倍型现在赋予对糖尿病和心血管疾病（意大利北部）以及肺结核和麻风病（意大利南部）等主要疾病的保护或易感性。出现的画面显示，地理、环境和文化相互作用产生的迁移、隔离和自然选择的综合影响形成了欧洲独一无二的复杂人类多样性模式，与当今丰富的动物和植物生物多样性。简而言之，科学证据和文化遗产将意大利描绘成一个环境极其多样化的地方，远方的人们自很久以前就在这里相遇，带来并分享基因和思想。