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Classification of European mtDNAs from an analysis of three European populations.
The conclusion that most haplogroups observed in Europe are Caucasoid-specific, and that at least some of them occur at varying frequencies in different Caucasoid populations, is supported.
Low-Pass DNA Sequencing of 1200 Sardinians Reconstructs European Y-Chromosome Phylogeny
A putative age for coalescence of ~180,000 to 200,000 years ago is calculated, which is consistent with previous mitochondrial DNA–based estimates and indicates the presumptive timing of coalescence with other human populations.
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis
A genome-wide association scan of ∼6.6 million genotyped or imputed variants in 882 Sardinian individuals with multiple sclerosis (cases) and 872 controls suggested association of CBLB gene variants…
The distribution of HLA class II haplotypes reveals that the Sardinian population is genetically differentiated from the other Caucasian populations.
The results indicate that the genetic structure of the present Sardinian population is the result of a fixation of haplotypes, which are very rare elsewhere, and are most likely to have originated from a relatively large group of founders.
Peopling of three Mediterranean islands (Corsica, Sardinia, and Sicily) inferred by Y-chromosome biallelic variability.
- P. Francalacci, L. Morelli, L. Cavalli-Sforza
- BiologyAmerican journal of physical anthropology
- 1 July 2003
The results identify possible ancestral continental sources of the various island populations and underscore the influence of founder effect and genetic drift.
Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia
Genotyping the rs725613 polymorphism, representative of the earlier reported associations with T1D within CLEC16A, is genotyped in Sardinian samples and provides evidence of joint disease association in T 1D and MS within CLEc16A and underline a shared disease pathway.
A Comparison of Y-Chromosome Variation in Sardinia and Anatolia Is More Consistent with Cultural Rather than Demic Diffusion of Agriculture
The data indicate that Sardinia does not contain a subset of the variability present in Anatolia and that the shared variability between these populations is best explained by an earlier, pre-Neolithic dispersal of haplogroups from a common ancestral gene pool.
The inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case-control association studies in complex diseases.
The results indicate that robust case-control studies can be carried out in Sardinia offering cost efficiency over certain family-based designs and that Sardinia is a relatively homogeneous population.
Y-Chromosome Based Evidence for Pre-Neolithic Origin of the Genetically Homogeneous but Diverse Sardinian Population: Inference for Association Scans
- D. Contu, L. Morelli, F. Santoni, J. W. Foster, P. Francalacci, F. Cucca
- BiologyPloS one
- 9 January 2008
Sardinia is an especially attractive venue for case-control genome wide association scans in common multifactorial diseases because the high degree of interindividual variation in the current population facilitates fine mapping efforts to pinpoint the aetiologic polymorphisms.
Mitochondrial DNA lineages of Italian Giara and Sarcidano horses.
- L. Morelli, A. Useli, P. Francalacci
- Biology, MedicineGenetics and molecular research : GMR
- 20 October 2014
To determine the genetic structure and evolutionary history of these 2 Sardinian breeds, the first hypervariable segment of the mitochondrial DNA was sequenced and analyzed in 40 Giara and Sarcidano horses and compared with publicly available mtDNA data from 43 Old World breeds.