An overview of the genetic structure within the Italian population from genome-wide data.
In spite of the common belief of Europe as reasonably homogeneous at genetic level, advances in high-throughput genotyping technology have resolved several gradients which define different geographical areas with good precision. When Northern and Southern European groups were considered separately,...
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2012
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oai:doaj.org-article:c7839472bb184a54beb66e92dfb908062021-11-18T07:05:56ZAn overview of the genetic structure within the Italian population from genome-wide data.1932-620310.1371/journal.pone.0043759https://doaj.org/article/c7839472bb184a54beb66e92dfb908062012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22984441/?tool=EBIhttps://doaj.org/toc/1932-6203In spite of the common belief of Europe as reasonably homogeneous at genetic level, advances in high-throughput genotyping technology have resolved several gradients which define different geographical areas with good precision. When Northern and Southern European groups were considered separately, there were clear genetic distinctions. Intra-country genetic differences were also evident, especially in Finland and, to a lesser extent, within other European populations. Here, we present the first analysis using the 125,799 genome-wide Single Nucleotide Polymorphisms (SNPs) data of 1,014 Italians with wide geographical coverage. We showed by using Principal Component analysis and model-based individual ancestry analysis, that the current population of Sardinia can be clearly differentiated genetically from mainland Italy and Sicily, and that a certain degree of genetic differentiation is detectable within the current Italian peninsula population. Pair-wise F(ST) statistics Northern and Southern Italy amounts approximately to 0.001 between, and around 0.002 between Northern Italy and Utah residents with Northern and Western European ancestry (CEU). The Italian population also revealed a fine genetic substructure underscoring by the genomic inflation (Sardinia vs. Northern Italy = 3.040 and Northern Italy vs. CEU = 1.427), warning against confounding effects of hidden relatedness and population substructure in association studies.Cornelia Di GaetanoFloriana VoglinoSimonetta GuarreraGiovanni FioritoFabio RosaAnna Maria Di BlasioPaola ManziniIrma DianzaniMarta BettiMarta BettiDaniele CusiFrancesca FrauCristina BarlassinaDario MirabelliCorrado MagnaniNicola GloriosoStefano BonassiAlberto PiazzaGiuseppe MatulloPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 9, p e43759 (2012) |
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Medicine R Science Q Cornelia Di Gaetano Floriana Voglino Simonetta Guarrera Giovanni Fiorito Fabio Rosa Anna Maria Di Blasio Paola Manzini Irma Dianzani Marta Betti Marta Betti Daniele Cusi Francesca Frau Cristina Barlassina Dario Mirabelli Corrado Magnani Nicola Glorioso Stefano Bonassi Alberto Piazza Giuseppe Matullo An overview of the genetic structure within the Italian population from genome-wide data. |
| description |
In spite of the common belief of Europe as reasonably homogeneous at genetic level, advances in high-throughput genotyping technology have resolved several gradients which define different geographical areas with good precision. When Northern and Southern European groups were considered separately, there were clear genetic distinctions. Intra-country genetic differences were also evident, especially in Finland and, to a lesser extent, within other European populations. Here, we present the first analysis using the 125,799 genome-wide Single Nucleotide Polymorphisms (SNPs) data of 1,014 Italians with wide geographical coverage. We showed by using Principal Component analysis and model-based individual ancestry analysis, that the current population of Sardinia can be clearly differentiated genetically from mainland Italy and Sicily, and that a certain degree of genetic differentiation is detectable within the current Italian peninsula population. Pair-wise F(ST) statistics Northern and Southern Italy amounts approximately to 0.001 between, and around 0.002 between Northern Italy and Utah residents with Northern and Western European ancestry (CEU). The Italian population also revealed a fine genetic substructure underscoring by the genomic inflation (Sardinia vs. Northern Italy = 3.040 and Northern Italy vs. CEU = 1.427), warning against confounding effects of hidden relatedness and population substructure in association studies. |
| format |
article |
| author |
Cornelia Di Gaetano Floriana Voglino Simonetta Guarrera Giovanni Fiorito Fabio Rosa Anna Maria Di Blasio Paola Manzini Irma Dianzani Marta Betti Marta Betti Daniele Cusi Francesca Frau Cristina Barlassina Dario Mirabelli Corrado Magnani Nicola Glorioso Stefano Bonassi Alberto Piazza Giuseppe Matullo |
| author_facet |
Cornelia Di Gaetano Floriana Voglino Simonetta Guarrera Giovanni Fiorito Fabio Rosa Anna Maria Di Blasio Paola Manzini Irma Dianzani Marta Betti Marta Betti Daniele Cusi Francesca Frau Cristina Barlassina Dario Mirabelli Corrado Magnani Nicola Glorioso Stefano Bonassi Alberto Piazza Giuseppe Matullo |
| author_sort |
Cornelia Di Gaetano |
| title |
An overview of the genetic structure within the Italian population from genome-wide data. |
| title_short |
An overview of the genetic structure within the Italian population from genome-wide data. |
| title_full |
An overview of the genetic structure within the Italian population from genome-wide data. |
| title_fullStr |
An overview of the genetic structure within the Italian population from genome-wide data. |
| title_full_unstemmed |
An overview of the genetic structure within the Italian population from genome-wide data. |
| title_sort |
overview of the genetic structure within the italian population from genome-wide data. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2012 |
| url |
https://doaj.org/article/c7839472bb184a54beb66e92dfb90806 |
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