Title |
Characterization of the biological processes shaping the genetic structure of the Italian population
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Published in |
BMC Genomic Data, November 2015
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DOI | 10.1186/s12863-015-0293-x |
Pubmed ID | |
Authors |
Silvia Parolo, Antonella Lisa, Davide Gentilini, Anna Maria Di Blasio, Simona Barlera, Enrico B. Nicolis, Giorgio B. Boncoraglio, Eugenio A. Parati, Silvia Bione |
Abstract |
The genetic structure of human populations is the outcome of the combined action of different processes such as demographic dynamics and natural selection. Several efforts toward the characterization of population genetic architectures and the identification of adaptation signatures were recently made. In this study, we provide a genome-wide depiction of the Italian population structure and the analysis of the major determinants of the current existing genetic variation. We defined and characterized 210 genomic loci associated with the first Principal Component calculated on the Italian genotypic data and correlated to the North-south genetic gradient. Using a gene-enrichment approach we identified the immune function as primarily involved in the Italian population differentiation and we described a locus on chromosome 13 showing combined evidence of North-south diversification in allele frequencies and signs of recent positive selection. In this region our bioinformatics analysis pinpointed an uncharacterized long intergenic non-coding (lincRNA), whose expression appeared specific for immune-related tissues suggesting its relevance for the immune function. Our study, combining population genetic analyses with biological insights provides a description of the Italian genetic structure that in future could contribute to the evaluation of complex diseases risk in the population context. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Australia | 1 | 17% |
United States | 1 | 17% |
United Kingdom | 1 | 17% |
Unknown | 3 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 4 | 67% |
Scientists | 2 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 25 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 6 | 24% |
Student > Bachelor | 5 | 20% |
Other | 2 | 8% |
Student > Master | 2 | 8% |
Student > Postgraduate | 2 | 8% |
Other | 3 | 12% |
Unknown | 5 | 20% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 7 | 28% |
Agricultural and Biological Sciences | 7 | 28% |
Medicine and Dentistry | 2 | 8% |
Arts and Humanities | 1 | 4% |
Computer Science | 1 | 4% |
Other | 1 | 4% |
Unknown | 6 | 24% |