ArticlePloS one2008
Y-chromosome based evidence for pre-neolithic origin of the genetically homogeneous but diverse Sardinian population: inference for association scans.
Article in PloS one, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 60 citations in OpenAlex.
- A comprehensive analysis of Y-chromosomal diversity in Colombian populations.International journal of legal medicine · 2026Article
- MICA-129Met/Val as a therapeutic compass in idiopathic pulmonary fibrosis: prognosis and antifibrotic benefit.Frontiers in immunology · 2026Article
- Article
- Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effect.Neurogenetics · 2020Article
- Y-chromosome and Surname Analyses for Reconstructing Past Population Structures: The Sardinian Population as a Test Case.International journal of molecular sciences · 2019Article
- Genomic history of the Sardinian population.Nature genetics · 2018Article
- Ancient mitogenomes of Phoenicians from Sardinia and Lebanon: A story of settlement, integration, and female mobility.PloS one · 2018Article
- Prehistoric migrations through the Mediterranean basin shaped Corsican Y-chromosome diversity.PloS one · 2018Article
- Complete mitochondrial sequences from Mesolithic Sardinia.Scientific reports · 2017Article
- Overcoming the dichotomy between open and isolated populations using genomic data from a large European dataset.Scientific reports · 2017Article
- Y-chromosomal analysis of Greek Cypriots reveals a primarily common pre-Ottoman paternal ancestry with Turkish Cypriots.PloS one · 2017Article
- Detection of phylogenetically informative polymorphisms in the entire euchromatic portion of human Y chromosome from a Sardinian sample.BMC research notes · 2015Article
- An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate.Neurogenetics · 2015Article
- Geographic population structure analysis of worldwide human populations infers their biogeographical origins.Nature communications · 2014Article
- Sardinians genetic background explained by runs of homozygosity and genomic regions under positive selection.PloS one · 2014Article
- The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy.Journal of neurology · 2014Article
- Uniparental markers in Italy reveal a sex-biased genetic structure and different historical strata.PloS one · 2013Article
- Genome-wide scan with nearly 700,000 SNPs in two Sardinian sub-populations suggests some regions as candidate targets for positive selection.European journal of human genetics : EJHG · 2012Article
- Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers.European journal of human genetics : EJHG · 2012Article
- Uniparental markers of contemporary Italian population reveals details on its pre-Roman heritage.PloS one · 2012Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
The island of Sardinia shows a unique high incidence of several autoimmune diseases with multifactorial inheritance, particularly type 1 diabetes and multiple sclerosis. The prior knowledge of the genetic structure of this population is fundamental to establish the optimal design for association studies in these diseases. Previous work suggested that the Sardinians are a relatively homogenous population, but some reports were contradictory and data were largely based on variants subject to selection. For an unbiased assessment of genetic structure, we studied a combination of neutral Y-chromosome variants, 21 biallelic and 8 short tandem repeats (STRs) in 930 Sardinian males. We found a high degree of interindividual variation but a homogenous distribution of the detected variability in samples from three separate regions of the island. One haplogroup, I-M26, is rare or absent outside Sardinia and is very common (0.37 frequency) throughout the island, consistent with a founder effect. A Bayesian full likelihood analysis (BATWING) indicated that the time from the most recent common ancestor (TMRCA) of I-M26, was 21.0 (16.0-25.5) thousand years ago (KYA) and that the population began to expand 14.0 (7.8-22.0) KYA. These results suggest a largely pre-Neolithic settlement of the island with little subsequent gene flow from outside populations. Consequently, Sardinia is an especially attractive venue for case-control genome wide association scans in common multifactorial diseases. Concomitantly, the high degree of interindividual variation in the current population facilitates fine mapping efforts to pinpoint the aetiologic polymorphisms.
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