Characterization of the biological processes shaping the genetic structure of the Italian population

BMC Genetics

Silvia Bione¹  Eugenio A. Parati³  Giorgio B. Boncoraglio³  Enrico B. Nicolis²  Simona Barlera²  Anna Maria Di Blasio⁴  Davide Gentilini⁴  Antonella Lisa¹  Silvia Parolo¹ 

[1] Computational Biology Unit, Institute of Molecular Genetics-National Research Council, Pavia, Italy;Department of Cardiovascular Research, IRCCS Mario Negri Institute for Pharmacological Research, Milan, Italy;Department of Cerebrovascular Diseases, IRCCS Istituto Neurologico Carlo Besta, Milan, Italy;Molecular Biology Laboratory, Istituto Auxologico Italiano, Milan, Italy

关键词: LincRNA;    Pathogen;    Immunity;    Latitude;   

Others  :  1233175
DOI  :  10.1186/s12863-015-0293-x

 received in 2015-09-02, accepted in 2015-11-03,  发布年份 2015

【 摘 要 】

Background

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.

Results

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.

Conclusions

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.

【 授权许可】

   
2015 Parolo et al.

【 图 表 】

Fig. 1.

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