La Sardegna contemporanea. Idee, luoghi, processi culturali

Gli studi sulla Sardegna contemporanea hanno vissuto negli ultimi venti anni una stagione di grande vivacità: un sempre più diffuso approccio interdisciplinare e l’applicazione di nuovi punti di vista e metodologie, come quelli degli studi culturali, hanno consentito la realizzazione di numerose ricerche innovative. Anche attraverso questi lavori ha ottenuto nuova linfa e assunto un nuovo spessore il dibattito sull’identità, tema divenuto centrale per gli studi sulla Sardegna. Questo volume nasce quindi dall’esigenza di elaborare una sintesi dello stato dell’arte, proponendosi come punto di riferimento per capire la Sardegna di oggi. I curatori hanno scelto di adottare una prospettiva di lungo periodo, che dall’Ottocento proietta l’isola nella contemporaneità, e inserisce in una prospettiva storiografica anche gli avvenimenti più recenti. Diviso in sei parti (Genti, Luoghi, Politica, Economia, Culture, Sguardi), e realizzato seguendo un approccio interdisciplinare che coinvolge antropologi, storici, demografi, sociologi, statistici, geografi sociali, linguisti e studiosi di letteratura, il libro affronta problematiche relative all’economia, alla cultura, alla demografia e alla politica, restituendo un quadro articolato della Sardegna contemporanea. È un volume che finalmente prova a parlare di Sardegna dalla Sardegna, lasciandosi alle spalle immagini stereotipate e di maniera, mettendone in luce le tante complessità, ed entrando nel vivo della contemporaneità senza accontentarsi di celebrare un passato millenario o rifugiarsi in una passiva contemplazione di tradizioni e specialità

Analysis of uniparental markers reveals a complex pattern of migration within Sardinia

Background: From the genetic viewpoint, Sardinia is well differentiated from other surrounding populations. In spite of a common ancestral origin, substantial genetic heterogeneity is observed within the island. Matrimonial pattern, as well as past migration movements, may account for the complex genetic structure of Sardinia. Aim: To compare data from uniparental markers in order to highlight the migration pattern of male and female lineages and check their congruence with the demographic data. Subjects and methods: Genomic DNA was obtained from 279 unrelated males selected from three isolated villages and from three open populations representative of North, Central and South Sardinia. The hypervariable region 1 of mtDNA was sequenced and 17 Y-chromosome loci were genotyped. Parameters of within and among populations diversity were calculated and analysis of migration was performed. Results: When analysed as a whole population, demographic data show a balanced movement of males and females in Sardinia, unlike other Italian and European populations. Remarkably, when the island is divided into geographic areas, different migration patterns are clearly recognisable. Whereas North and Central Sardinia populations show a stronger male migration rate, the South Sardinia population shows a stronger female migration rate. Conclusion: Distinct migration patterns of male and female lineages affect the areas investigated differently. These past migration movements are major contributors to the complex genetic structure currently observed in the Sardinian population

Sampling strategies in a linguistic isolate: results from mtDNA analysis

Objectives: Sampling strategies are crucial issues in population genetics and anthropological studies. The sampling choice is related to the research question and the type of markers used. In this research, we compared two different sampling strategies in the Sardinian linguistic isolate of Carloforte (Italy). Methods: A first sampling (N = 49) was carried out through grandparents criterion: individuals selected for the study were born and resident in Carloforte, and unrelated for at least three generations. A second sampling (N = 50) was based on founders surnames (FS): selected participants were proved to be descendants of the village founders, and to have no ancestors in common, at least up to the grandparental generation. Results: The group selected through FS showed a greater gene diversity, which was confirmed by both network and haplogroup analysis. Among the shared haplogroups, we find clear differences in their frequencies. Sampling through grandparents criterion showed essentially the same haplogroups found in Sardinia, and with similar frequencies. Interesting results came from genetic tree. The FS sampling clustered with Northern African populations and it is located very far from Italian and Sardinian populations, whereas the grandparents criterion sampling clustered with Italian populations and it is located close to the other Sardinian populations. Conclusions: Results showed that different sampling strategies can lead to contrasting results. As sampling through grandparents criterion is influenced by recent gene flow, we hypothesize that the difference observed with the two sampling strategies is due to the merging of Carloforte with Sardinian populations

Distribution of 15 autosomal STRs in the region of Sarrabus, Sardinia (Italy)

In this paper we report, for the first time, on the distribution of 15 autosomal short tandem repeats (STRs) in Sarrabus, a region in south east Sardinia (Italy), for which there are no data in the literature. Samples were obtained from 77 unrelated normal subjects born and living in the three main villages of Sarrabus. In spite of being a homogeneous population, a high degree of polymorphism was observed: heterozygosity values range from 0.618 to 0.848 and Polymophism Information Content (PIC) values range from 0.579 to 0.853. When compared to other Sardinian populations, our data showed that Sarrabus is genetically well differentiated. This finding is consistent with the notion that Sardinia, although regarded as a homogeneous population, shows genetic heterogeneity when different microareas are analyzed. The implication in forensic medicine of our results, which describe a missing population, are discussed

Analysis of 16 STRs of NOS gene regions and around in six Sardinian populations (Italy)

Objectives: The aims of this work are to provide first data on novel STRs at the NOS gene regions in human populations and to test for possible correlations with mortality rate by malaria in different areas of Sardinia (Italy). Methods: In the present study, 16 STRs (13 analyzed for the first time in human populations) localized on three genes NOS were typed in 213 healthy individuals, unrelated for at least three generations, from six historical-geographical Sardinian areas. STRs alleles were determined through sequencing. Statistical analyses were performed by Genepop (v.4.0), Arlequin (v.3.5.1.2), R (v.2.15.1), Statistica (v.5.1), and PHASE (v.2.1) software packages. Results: The number of alleles found for each locus ranged from 2 to 12 and their distribution is most often unimodal. All populations met Hardy Weinberg equilibrium after Bonferroni correction, with few exceptions. Analysis of genetic distances did not show strong genetic structuring of the investigated populations. Instead, the population genetic variability shows a positive and highly significant (P-value<0.01) correlation between mortality determined by malaria infection and alleles (TGGA)7 of NOS2, (AAAAG)2 and (ATTT)10 of adNOS1, and (AAACA)11 of adNOS3 genes. Conclusions: The peculiar allele distribution found for several NOS alleles could be due to malaria infection that may have contributed to their frequencies, but we cannot exclude that the peculiar allele distribution of NOS might also be due to genetic drift, emphasized by isolation and founder effec

ACTN3 R577X polymorphism is not associated with team sport athletic status in Italians

Background: The ACTN3 gene may influence performance in team sports, in which sprint action and high-speed movements, regulated by the anaerobic energy system, are crucial to the ultimate success of a match. The aim of this study was to determine the association between the ACTN3 R577X (rs1815739) polymorphism and elite team sport athletic status in Italian male athletes.Methods: We compared the genotype and allele frequency of the ACTN3 R577X polymorphism between team sport athletes (n = 75), endurance athletes (n = 40), sprint/power athletes (n = 64), and non-athletic healthy controls (n = 192) from Italy. Genomic DNA was collected using a buccal swab. Extraction was performed according to the manufacturer's directions provided with a commercially available kit (Qiagen S.r.l., Milan, Italy).Results: Team sport athletes showed a lower frequency of the 577RR genotype compared to the 577XX genotype than sprint/power athletes (p = 0.044). However, the ACTN3 R577X polymorphism was not associated with team sport athletic status compared to endurance athletes and non-athletic controls.Conclusions: Our results agree with a recent large-scale study involving athletes from Spain, Poland, and Russia. The ACTN3 R577X polymorphism was not associated with team sport athletic status compared to endurance athletes and non-athletic controls

Genetic polymorphisms and skeletal muscle injuries among Italian soccer players

Introduction: Skeletal muscle injuries sustained during sport and their subsequent functional recoveries seem to be influenced by interactions between environmental stimuli (training, overload/overtraining, wrong techniques) and specific genotypes. Variations in DNA sequences in specific genes have been associated with specific phenotypes involved in athletic performance, including individual susceptibility to injury. Aim: The aim of this pilot study was to analyze the influence of five genetic polymorphisms (COL5A1 rs12722, MTC1 rs1049434, VDR Apa I, VDR Bsm I, and VDR Fok I), to the development of skeletal muscle injuries among soccer players. Methods: Sixty-four young male soccer players from three teams participating at the Official Italian Football Championship were recruited during the 2012-2013 season. The sample was genotyped for 5 SNPs (Single Nucleotide Polymorphisms) and data on injuries were collected in according to standard procedure. Using Total Genotype Score (TGS) the combined influence of the polymorphisms was analyzed. Results: No significant correlations were found between injuries and single genotypes or between incidence of injuries and TGS. The regression model highlighted that the combined influence of training volume and TGS significantly predicted injury rate, explaining 10% of the variability in injury incidence (R2 = 10.36, df = 2.61 , F = 3.52 , P=0.03)