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

@article{Parolo2015CharacterizationOT,
  title={Characterization of the biological processes shaping the genetic structure of the Italian population},
  author={Silvia Parolo and Antonella Lisa and Davide Gentilini and A. M. Di Blasio and Simona Barlera and Enrico B. Nicolis and Giorgio B. Boncoraglio and Eugenio Agostino Parati and Silvia Bione},
  journal={BMC Genetics},
  year={2015},
  volume={16}
}
BackgroundThe 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.ResultsWe… 
Impact of demography and population dynamics on the genetic architecture of human longevity
TLDR
It is proposed that demographic history and ancient/recent population dynamics need to be properly considered to identify genes involved in longevity, which can differ in different temporal/spatial settings.
Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe
A population in a natural crossroad within Europe reveals multiple ancient contributions and substantial population structure. European populations display low genetic differentiation as the result
Functional and clinical implications of genetic structure in 1686 Italian exomes
TLDR
To reconstruct the phenotypical and clinical implications of the Italian genetic structure, a whole‐exome sequencing data set comprised of 1686 healthy Italian individuals was analyzed and aggregated frequencies from this data set were made publicly available as a tool for both clinicians and researchers.
Ripples on the surface. Surnames and genes in Sicily and Southern Italy
TLDR
The apparent contradiction between surname structure and genetic homogeneity was resolved by figuring surnames as recent “ripples” deposited on a vast and ancient homogeneous genetic “surface”.
Helena’s Many Daughters: More Mitogenome Diversity behind the Most Common West Eurasian mtDNA Control Region Haplotype in an Extended Italian Population Sample
TLDR
This study investigates the potential to solve the constraint of high number of matching haplotypes for forensic applications by massively parallel sequencing a large number of mitogenomes that share the most common West Eurasian mtDNA control region (CR) haplotype motif (263G 315.1C 16519C).
The mitogenome portrait of Umbria in Central Italy as depicted by contemporary inhabitants and pre-Roman remains
TLDR
This diachronic mtDNA portrait of Umbria fits well with the genome-wide population structure identified on the entire peninsula and with historical sources that list the Umbri among the most ancient Italic populations.
Genes associated with liver damage signalling pathways may impact the severity of COVID-19 symptoms in Spanish and Italian populations
TLDR
The results suggest some of the severe COVID-19 cases reported in Spain and Italy could be partially explained by a pre-existing liver condition (especially liver cancer) and/or may lead to further CO VID-19 related liver complications.
Y-chromosome and Surname Analyses for Reconstructing Past Population Structures: The Sardinian Population as a Test Case
TLDR
The results show that the analysis of the Y-chromosome gene pool coupled with a sampling method based on the origin of the family name, is an efficient approach to unravelling past heterogeneity, often hidden by recent movements, in the gene pool of modern populations.
Complex interplay between neutral and adaptive evolution shaped differential genomic background and disease susceptibility along the Italian peninsula
TLDR
Fine-grained dissection of Italian population structure was enabled through the identification of clusters of genetically homogeneous provinces and of genomic regions underlying their local adaptations, 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.

References

SHOWING 1-10 OF 78 REFERENCES
Signatures of Environmental Genetic Adaptation Pinpoint Pathogens as the Main Selective Pressure through Human Evolution
TLDR
It is shown that the diversity of the local pathogenic environment is the predominant driver of local adaptation, and that climate, at least as measured here, only plays a relatively minor role.
An Overview of the Genetic Structure within the Italian Population from Genome-Wide Data
TLDR
It is shown 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.
Investigation of the fine structure of European populations with applications to disease association studies
TLDR
A method to predict the ethnic origin of samples by comparing the sample genotypes with those from a reference set of samples of known origin is presented, which can be performed using just summary information on the known samples, and individual genotype data are not required.
Genetic Structure of Europeans: A View from the North–East
TLDR
This analysis revealed that the genetic structure of the European population correlates closely with geography, and allows the creation of a comprehensive European genetic map that will greatly facilitate inter-population genetic studies including genome wide association studies (GWAS).
Genes mirror geography within Europe
TLDR
Despite low average levels of genetic differentiation among Europeans, there is a close correspondence between genetic and geographic distances; indeed, a geographical map of Europe arises naturally as an efficient two-dimensional summary of genetic variation in Europeans.
Signals of recent positive selection in a worldwide sample of human populations.
TLDR
Analysis of recent selection in a global sample of 53 populations, using genotype data from the Human Genome Diversity-CEPH Panel, suggests that there has been selection on loci involved in susceptibility to type II diabetes.
Identification and Analysis of Genomic Regions with Large Between‐Population Differentiation in Humans
TLDR
This work uses allele frequency data from ∼1.5 million SNPs from three human populations and presents an algorithm that identifies genomic regions containing SNPs with extreme Fst, a first step in identifying the genetic variants that contribute to large phenotypic differences between populations.
Analysis and Application of European Genetic Substructure Using 300 K SNP Information
TLDR
Two sets of European substructure ancestry informative markers (ESAIMs) were identified that provide substantial substructure information that can be used for improving error rates in association testing of candidate genes and in replication studies of WGA scans.
A Map of Recent Positive Selection in the Human Genome
TLDR
A set of SNPs is developed that can be used to tag the strongest ∼250 signals of recent selection in each population, and it is found that by some measures the authors' strongest signals of selection are from the Yoruba population.
...
...