ArticleEuropean journal of human genetics : EJHG2016
The Italian genome reflects the history of Europe and the Mediterranean basin.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 59 citations in OpenAlex.
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- Whole-Genome Sequencing in Galicia Reveals Male-Biased Pre-Islamic North African Ancestry, Subtle Population Structure, and Microgeographic Patterns of Disease Risk.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- Cross-Population Analysis of Sjögren's Syndrome Polygenic Risk Scores and Disease Prevalence: A Pilot Study.Genes · 2025Article
- The extent of the hip bone sexual dimorphism in two Italian coeval modern skeletal samples.Scientific reports · 2025Article
- Population Heterogeneity and Selection of Coronary Artery Disease Polygenic Scores.Journal of personalized medicine · 2024Article
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- Investigation on the high recurrence of the ATTRv-causing transthyretin variant Val142Ile in central Italy.European journal of human genetics : EJHG · 2023Article
- Review
- Helena's Many Daughters: More Mitogenome Diversity behind the Most Common West Eurasian mtDNA Control Region Haplotype in an Extended Italian Population Sample.International journal of molecular sciences · 2022Article
- Clinical Network for Big Data and Personalized Health: Study Protocol and Preliminary Results.International journal of environmental research and public health · 2022Article
- A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population.Frontiers in immunology · 2022Article
- Combination of Genomic and Transcriptomic Approaches Highlights Vascular and Circadian Clock Components in Multiple Sclerosis.International journal of molecular sciences · 2021Article
- Through 40,000 years of human presence in Southern Europe: the Italian case study.Human genetics · 2021Review
- The origin and legacy of the Etruscans through a 2000-year archeogenomic time transect.Science advances · 2021Article
- Phylogeographic review of Y chromosome haplogroups in Europe.International journal of legal medicine · 2021Review
- Article
- Genetic history of Calabrian Greeks reveals ancient events and long term isolation in the Aspromonte area of Southern Italy.Scientific reports · 2021Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.