Influence of the COL5A1 rs12722 on musculoskeletal injuries in professional soccer players.

AIM: The aim of this study was to investigate whether COL5A1 rs12722 polymorphism is associated with musculoskeletal injuries in elite soccer players. METHODS: Fifty-four male professional soccer players of European origin (25.9±4.3 years) were recruited from a team participating at the Official Italian Professional Championship during four consecutive seasons (2009-2013). The incidence and severity of musculoskeletal injuries and its relationship to COL5A1 rs12722 polymorphism were analyzed. DNA was extracted from buccal swab. The cohort was genotyped for the COL5A1 rs12722 single nucleotide polymorphism (SNP) through PCR and enzyme digestion with BstUI, and musculoskeletal injuries data were collected during the four seasons. Injuries were categorized under 5 degrees of severity based on the number of days' absence, while musculoskeletal injuries incidence was calculated per 1,000 hours of exposure to training and matches ((∑ injuries/∑ exposure hours) x 1000). RESULTS: No significant differences were found among genotypes for incidence of musculoskeletal injuries (P=0.683). Participants with TT genotype (3.71±0.5, N.=4) showed a trend (P=0.193) versus an higher severity of injuries than individuals with TC (2.98±0.8, N.=10) or CC (2.75±0.95, n=4) genotypes. The COL5A1 rs12722 accounted for 44% of severity of injuries (P=0.002). CONCLUSION: In conclusion, the COL5A1 rs12722 was found to be associated with severity of musculoskeletal injuries but not with incidence of musculoskeletal injuries in top-level soccer players.

Non-random distribution of 17 Y-chromosome STR loci in different areas of Sardinia.

Allele frequencies of 17 Y-chromosome short tandem repeat (STR) loci, included in the AmpFlSTR® Y-FilerTM amplification kit, were analyzed for the first time in different samplings (N=268) from Sardinia, Italy. Samples were collected from three isolated populations (N=139) and three open populations (N=129). A total of 230 unique haplotypes were detected; the observed haplotype diversity and discrimination capacity were 0.998 and 0.858, respectively. The data presented confirm that Sardinian population is well differentiated from other Italian and Mediterranean populations. Although regarded as a homogeneous population, substantial heterogeneity was detected when Sardinian isolated villages or microareas were analyzed. Our results highlights the importance of building a Sardinia-own database, organized by small areas, as a powerful tool for both forensic applications and population genetics studies.

Analysis of a genetic isolate: the case of Carloforte (Italy).

We reviewed data collected during several studies concerning the genetic isolate of Carloforte (Sardinia, Italy) and analyzed new data on Y-chromosome markers. Carloforte is also a language island, where people still speak Tabarchino, an archaic form of Ligurian dialect. Demographic data indicate that, in the early years of its history, the Carloforte population was characterized by a high degree of endogamy and consanguinity rates that started to decrease around 1850, when marriages with Sardinian people began to occur more frequently. Cultural factors, mainly language, account for the high endogamy. Genetic data from classical markers, mtDNA, and Y-chromosome markers confirmed the strong isolation of the Carloforte population, which appears significantly different from the neighboring population of Sardinia. Analysis of mtDNA emphasizes the crucial aspect of sampling strategy-two different samplings of the same population (one based on founder surnames; the other based on grandparents' criterion) gave different results. Founder surnames sampling is not affected by recent events, and therefore it better describes the ancestral population, whereas, grandparents' criterion sampling gives a picture of the present population, shaped by more recent events, such as migration and gene flow. This review further supports the notion that a comprehensive approach, including a detailed knowledge of the history of the population and the collection of different samplings, is essential in anthropology for reconstructing past and recent events that contributed to establishing the present genetic structure of the population. Likewise, it is essential in medical genetics to identify genes involved in complex diseases. An ideal scenario is offered by a genetic isolate with a recent, and well-documented, history, such as Carloforte, that can ba a paradigm for this type of investigation.