The Italian genome reflects the history of Europe and the Mediterranean basin

Fiorito, Giovanni; Gaetano, Cornelia Di; Guarrera, Simonetta; Rosa, Fabio; Feldman, Marcus W.; Piazza, Alberto; Matullo, Giuseppe

doi:10.1038/ejhg.2015.233

Cited by 45 publications

(55 citation statements)

References 40 publications

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“…Distributions of these two ancestry fractions suggest that they plausibly reflect the combined impact of multiple population movements stratified along a wide time interval, but broadly following coastline migratory routes towards Southern Italy. The Middle Eastern-like ancestry could be the complex result of events spanning from earlier arrival of Neolithic farmers in Southern Italy than in Northern Italy78, in line with emerging genetic evidence supporting early Neolithic colonization routes following northern Mediterranean coastlines103031, to more recent historical processes12143233. Results from ALDER analysis actually suggest that gene flow from the Middle East interested C_ITA until more recent times, pointing to an admixture signature plausibly ascribable to events occurred during recurrent expansions and contractions of the Byzantine Empire (1.7–0.5 kya)28 (Supplementary Table S2).…”

Section: Resultsmentioning

confidence: 69%

“…Nevertheless, few autosomal genome-wide datasets have been generated until now to further disentangle this scenario and to explicitly test hypotheses related to occurrence of local adaptive events in diverse Italian subpopulations202122. In fact, genome-wide data suggested the existence of potential genetic barriers between Italians and other Europeans23 and further corroborated evidence for internal differentiation of the overall Italian population142224. However, most of these surveys were focused on single subpopulations (mainly Sardinians) or were constrained by limited sample sizes and/or inclusion of subjects collected within the framework of European GWASs, thus not chosen according to stringent bio-anthropological criteria.…”

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confidence: 99%

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Complex interplay between neutral and adaptive evolution shaped differential genomic background and disease susceptibility along the Italian peninsula

Sazzini

Ruscone

Giuliani

et al. 2016

Sci Rep

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The Italian peninsula has long represented a natural hub for human migrations across the Mediterranean area, being involved in several prehistoric and historical population movements. Coupled with a patchy environmental landscape entailing different ecological/cultural selective pressures, this might have produced peculiar patterns of population structure and local adaptations responsible for heterogeneous genomic background of present-day Italians. To disentangle this complex scenario, genome-wide data from 780 Italian individuals were generated and set into the context of European/Mediterranean genomic diversity by comparison with genotypes from 50 populations. To maximize possibility of pinpointing functional genomic regions that have played adaptive roles during Italian natural history, our survey included also ~250,000 exomic markers and ~20,000 coding/regulatory variants with well-established clinical relevance. This enabled fine-grained dissection of Italian population structure through the identification of clusters of genetically homogeneous provinces and of genomic regions underlying their local adaptations. Description of such patterns disclosed crucial implications for understanding differential susceptibility to some inflammatory/autoimmune disorders, coronary artery disease and type 2 diabetes of diverse Italian subpopulations, suggesting the evolutionary causes that made some of them particularly exposed to the metabolic and immune challenges imposed by dietary and lifestyle shifts that involved western societies in the last centuries.

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Section: Resultsmentioning

confidence: 69%

mentioning

confidence: 99%

Complex interplay between neutral and adaptive evolution shaped differential genomic background and disease susceptibility along the Italian peninsula

Sazzini

Ruscone

Giuliani

et al. 2016

Sci Rep

Self Cite

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“…36,37 High levels of haplotype sharing have been observed in a number of other founder populations, including the Druze; 38 Ashkenazi and other Jews; [39][40][41] Indians; 42 French Canadians; 43 Hispanic/Latino and Native Americans; [44][45][46] European isolates; [47][48][49][50][51] and other European populations. 30,[52][53][54] However, few studies have investigated recent demographic history in depth with pairwise haplotype sharing in Finns, who are among the best-studied population isolates. 13,22,55 In this study, we combined biobank-scale genetic and detailed birth-record data to assemble a comprehensive inquiry into recent population history by employing genetic data from 43,254 Finnish individuals ($0.8% of Finland's total population) and 16,060 demographically distinct individuals from geographically or linguistically neighboring countries, including Sweden, Estonia, Russia, and Hungary.…”

Section: Introductionmentioning

confidence: 99%

Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland

Martin

Karczewski

Kerminen

et al. 2018

The American Journal of Human Genetics

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Finland provides unique opportunities to investigate population and medical genomics because of its adoption of unified national electronic health records, detailed historical and birth records, and serial population bottlenecks. We assembled a comprehensive view of recent population history (≤100 generations), the timespan during which most rare-disease-causing alleles arose, by comparing pairwise haplotype sharing from 43,254 Finns to that of 16,060 Swedes, Estonians, Russians, and Hungarians from geographically and linguistically adjacent countries with different population histories. We find much more extensive sharing in Finns, with at least one ≥ 5 cM tract on average between pairs of unrelated individuals. By coupling haplotype sharing with fine-scale birth records from more than 25,000 individuals, we find that although haplotype sharing broadly decays with geographical distance, there are pockets of excess haplotype sharing; individuals from northeast Finland typically share several-fold more of their genome in identity-by-descent segments than individuals from southwest regions. We estimate recent effective population-size changes through time across regions of Finland, and we find that there was more continuous gene flow as Finns migrated from southwest to northeast between the early- and late-settlement regions than was dichotomously described previously. Lastly, we show that haplotype sharing is locally enriched by an order of magnitude among pairs of individuals sharing rare alleles and especially among pairs sharing rare disease-causing variants. Our work provides a general framework for using haplotype sharing to reconstruct an integrative view of recent population history and gain insight into the evolutionary origins of rare variants contributing to disease.

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“…On the other hand, while aDNA data from Southern Italy and Sicily are still limited, genome-wide analyses of modern populations from these areas mainly consisted to wide-range surveys without specific fine-scale insights 18, 35, 36 .…”

Section: Introductionmentioning

confidence: 99%

Ancient and recent admixture layers in Sicily and Southern Italy trace multiple migration routes along the Mediterranean

Sarno¹,

Boattini²,

Pagani³

et al. 2017

Sci Rep

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The Mediterranean shores stretching between Sicily, Southern Italy and the Southern Balkans witnessed a long series of migration processes and cultural exchanges. Accordingly, present-day population diversity is composed by multiple genetic layers, which make the deciphering of different ancestral and historical contributes particularly challenging. We address this issue by genotyping 511 samples from 23 populations of Sicily, Southern Italy, Greece and Albania with the Illumina GenoChip Array, also including new samples from Albanian- and Greek-speaking ethno-linguistic minorities of Southern Italy. Our results reveal a shared Mediterranean genetic continuity, extending from Sicily to Cyprus, where Southern Italian populations appear genetically closer to Greek-speaking islands than to continental Greece. Besides a predominant Neolithic background, we identify traces of Post-Neolithic Levantine- and Caucasus-related ancestries, compatible with maritime Bronze-Age migrations. We argue that these results may have important implications in the cultural history of Europe, such as in the diffusion of some Indo-European languages. Instead, recent historical expansions from North-Eastern Europe account for the observed differentiation of present-day continental Southern Balkan groups. Patterns of IBD-sharing directly reconnect Albanian-speaking Arbereshe with a recent Balkan-source origin, while Greek-speaking communities of Southern Italy cluster with their Italian-speaking neighbours suggesting a long-term history of presence in Southern Italy.

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The Italian genome reflects the history of Europe and the Mediterranean basin

Cited by 45 publications

References 40 publications

Complex interplay between neutral and adaptive evolution shaped differential genomic background and disease susceptibility along the Italian peninsula

Complex interplay between neutral and adaptive evolution shaped differential genomic background and disease susceptibility along the Italian peninsula

Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland

Ancient and recent admixture layers in Sicily and Southern Italy trace multiple migration routes along the Mediterranean

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