ArticleEuropean journal of human genetics : EJHG2012
Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- MICA-129Met/Val as a therapeutic compass in idiopathic pulmonary fibrosis: prognosis and antifibrotic benefit.Frontiers in immunology · 2026Article
- Y-chromosome and Surname Analyses for Reconstructing Past Population Structures: The Sardinian Population as a Test Case.International journal of molecular sciences · 2019Article
- Mitochondrial DNA variability of the Polish population.European journal of human genetics : EJHG · 2019Article
- Detecting past male-mediated expansions using the Y chromosome.Human genetics · 2017Review
- Overcoming the dichotomy between open and isolated populations using genomic data from a large European dataset.Scientific reports · 2017Article
- Genetic structure of the Newfoundland and Labrador population: founder effects modulate variability.European journal of human genetics : EJHG · 2016Article
- Risk factors associated with colonic diverticulosis among patients from a defined geographic area.Techniques in coloproctology · 2016Article
- Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2014Article
- Sardinians genetic background explained by runs of homozygosity and genomic regions under positive selection.PloS one · 2014Article
- Uniparental markers in Italy reveal a sex-biased genetic structure and different historical strata.PloS one · 2013Article
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10 authors.
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Abstract
Sardinia has been used for genetic studies because of its historical isolation, genetic homogeneity and increased prevalence of certain rare diseases. Controversy remains concerning the genetic substructure and the extent of genetic homogeneity, which has implications for the design of genome-wide association studies (GWAS). We revisited this issue by examining the genetic make-up of a sample from North-East Sardinia using a dense set of autosomal, Y chromosome and mitochondrial markers to assess the potential of the sample for GWAS and fine mapping studies. We genotyped individuals for 500K single-nucleotide polymorphisms, Y chromosome markers and sequenced the mitochondrial hypervariable (HVI-HVII) regions. We identified major haplogroups and compared these with other populations. We estimated linkage disequilibrium (LD) and haplotype diversity across autosomal markers, and compared these with other populations. Our results show that within Sardinia there is no major population substructure and thus it can be considered a genetically homogenous population. We did not find substantial differences in the extent of LD in Sardinians compared with other populations. However, we showed that at least 9% of genomic regions in Sardinians differed in LD structure, which is helpful for identifying functional variants using fine mapping. We concluded that Sardinia is a powerful setting for genetic studies including GWAS and other mapping approaches.
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