ArticlePloS one2014
Sardinians genetic background explained by runs of homozygosity and genomic regions under positive selection.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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28 citing papers in PubMed, 44 citations in OpenAlex.
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- Impact of the Human Leukocyte Antigen Complex on Idiopathic Pulmonary Fibrosis Development and Progression in the Sardinian Population.International journal of molecular sciences · 2025Article
- The role of HLA-G in primary biliary cholangitis and response to therapy.Frontiers in immunology · 2025Article
- Age Assessment in Children and Adolescents by Measuring the Open Apices in Teeth: A New Sardinian Formula.Dentistry journal · 2022Article
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- A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population.Frontiers in immunology · 2022Article
- Exploring European ancestry among the Kalash population: a mitogenomic perspective.Zoological research · 2020Article
- Historical human activities reshape evolutionary trajectories across both native and introduced ranges.Ecology and evolution · 2020Article
- Adaptation to Extreme Environments in an Admixed Human Population from the Atacama Desert.Genome biology and evolution · 2019Article
- People from Ibiza: an unexpected isolate in the Western Mediterranean.European journal of human genetics : EJHG · 2019Article
- Ankylosing Spondylitis: A Trade Off of HLA-B27, ERAP, and Pathogen Interconnections? Focus on Sardinia.Frontiers in immunology · 2019Article
- Adaptive genetic variation underlies biocomplexity of Atlantic Cod in the Gulf of Maine and on Georges Bank.PloS one · 2019Article
- Sequence diversity of the Rh blood group system in Basques.European journal of human genetics : EJHG · 2018Article
- Patterns of homozygosity in insular and continental goat breeds.Genetics, selection, evolution : GSE · 2018Article
- Understanding the Hidden Complexity of Latin American Population Isolates.American journal of human genetics · 2018Article
- Is the third molar maturity index (IInternational journal of legal medicine · 2018Article
- Inbreeding in Southeastern Spain : The Impact of Geography and Demography on Marital Mobility and Marital Distance Patterns (1900-1969).Human nature (Hawthorne, N.Y.) · 2018Article
- Weighted likelihood inference of genomic autozygosity patterns in dense genotype data.BMC genomics · 2017Article
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Authors and funding
16 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The peculiar position of Sardinia in the Mediterranean sea has rendered its population an interesting biogeographical isolate. The aim of this study was to investigate the genetic population structure, as well as to estimate Runs of Homozygosity and regions under positive selection, using about 1.2 million single nucleotide polymorphisms genotyped in 1077 Sardinian individuals. Using four different methods--fixation index, inflation factor, principal component analysis and ancestry estimation--we were able to highlight, as expected for a genetic isolate, the high internal homogeneity of the island. Sardinians showed a higher percentage of genome covered by RoHs>0.5 Mb (F(RoH%0.5)) when compared to peninsular Italians, with the only exception of the area surrounding Alghero. We furthermore identified 9 genomic regions showing signs of positive selection and, we re-captured many previously inferred signals. Other regions harbor novel candidate genes for positive selection, like TMEM252, or regions containing long non coding RNA. With the present study we confirmed the high genetic homogeneity of Sardinia that may be explained by the shared ancestry combined with the action of evolutionary forces.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.