BackgroundThe aim of this study was to investigate the association between MCT1 rs1049434 polymorphism and indirect muscle injuries in elite football players. One hundred and seventy-three male elite Italian football players (age = 19.2 ± 5.3 years) were recruited from a first-league football club participating at the Official National Italian Football Championship (Serie A, Primavera, Allievi, Giovanissimi). The cohort was genotyped for the MCT1 rs1049434 polymorphism, and muscle injuries data were collected during the period of 2009–2014 (five football seasons).MethodsGenomic DNA was extracted using a buccal swab, and genotyping was performed using PCR method. Structural-mechanical injuries and functional muscle disorder were included in the acute indirect muscle injury group.ResultsParticipants with the MCT1 AA (AA = 1.57 ± 3.07, n = 69) genotype exhibit significantly higher injury incidents compared to participants with the TT genotype (TT = 0.09 ± 0.25, n = 22, P = 0.04).ConclusionsThe MCT1 rs1049434 polymorphism is associated with the incidence of muscle injuries in elite football players. We anticipate that the knowledge of athletes’ genetic predisposition to sports-related injuries might aid in individualizing training programs.

Abstract. The aim of the present study was to investigate the association between vitamin D receptor (VDR) gene polymorphisms and musculoskeletal injury (MI) in elite football players. In total, 54 male professional football players were recruited from an official Italian professional championship team between 2009 and 2013. The cohort was genotyped for the ApaI, BsmI and FokI polymorphisms and MI data were collected over four football seasons. No significant differences were identified among the genotypes in the incidence rates or severity of MI (P= 0.254). In addition, no significant associations were observed between VDR polymorphisms and MI phenotypes (P=0.460). However, the results of the casewise multiple regression analysis indicated that the ApaI genotypes accounted for 18% of injury severity (P=0.002). Therefore, while the BsmI and FokI polymorphisms did not appear to be associated with the severity or incidence of MI, the ApaI genotypes may have influenced the severity of muscle injury in top-level football players. IntroductionThe vitamin D receptor (VDR) gene is located on human chromosome 12 (12q12-q14) and is 100 kb in length, with >100 restriction endonuclease cutting site polymorphisms (1). VDR is a member of the steroid superfamily of nuclear receptors, which serve key functions in the regulation of the transcriptional activity of the vitamin D metabolite 1α, 25-dihydroxyvitamin D3. Vitamin D performs an established role in calcium metabolism, increasing the absorption of calcium and phosphate from the intestines and the reabsorption of calcium in the kidneys. Furthermore, vitamin D is hypothesized to be crucial in skeletal muscle function, and VDRs have been identified in this tissue (2,3). In addition, vitamin D has been hypothesized to influence myocytes via VDRs, resulting in myocyte proliferation, differentiation, growth and inflammation (4).The VDR gene contains numerous polymorphisms. A polymorphic start codon in the 5' end of the gene is identified by the restriction enzyme FokI. There are three polymorphisms at the 3' end of the VDR gene, generating the BsmI, ApaI and TaqI restriction sites (5).These functional genetic polymorphisms in the VDR gene may be associated with tissues that respond to vitamin D, including muscle cells and adipocytes. Skeletal muscle is established to be a target organ for vitamin D, and vitamin D metabolites directly affect muscle cell metabolism via a number of pathways (6). Furthermore, previous studies have associated vitamin D deficiency with muscular weakness (6,7).Numerous cohort and cross-sectional studies have investigated the associations between vitamin D status and various parameters of neuromuscular performance. Prior studies have indicated that vitamin D exerts a beneficial effect on these parameters (7-10); however, certain other studies have contradicted these findings (11)(12)(13)(14).Muscle injury is a major problem for football players and has been reported to account for 20-37% of all injury-associated time loss at the male professional leve...

BackgroundTrunk impairment seems to impact significantly on performance in wheelchair court sports, but evidence to support this impression has never been systematically assessed. The objective of this study is to systematically review, describe and synthesise the literature investigating the impact of trunk impairment on wheelchair activities in court sports.MethodsThis systematic review was performed according to the consensus statement for the meta-analysis of observational studies in epidemiology (MOOSE). The search strategy for original articles comprised Medline (1950- November 2014), Cinahl (1981-November 2014), and Embase (1980- November 2014), using the search terms: trunk, trunk muscles, postural balance, posture and wheelchair.Eligibility criteria for further review were 1) participants included experienced wheelchair users, 2) comparisons were made between a) participants with different levels of trunk impairment or b) between able bodied participants and participants with trunk impairment, or c) between participants with trunk impairment with and without compensatory equipment, and 3) outcome measures were quantitative data on wheelchair activities. For methodological quality assessment, the STROBE (Strengthening the reporting of observational studies in epidemiology) checklist was used.ResultsAfter assessment of 358 potentially relevant studies for the eligibility criteria, 25 studies were appropriate for methodological assessment. Twelve articles fulfilled the predetermined minimum of 15 reported items on the 22-item STROBE checklist. These studies were limited to observational studies with small populations. All but one study were restricted to patients with spinal cord injury (SCI).ConclusionsLimited evidence was found about the impact of trunk impairment on wheelchair activities. Reach to the front and multidirectional reach was further in able bodied persons than in persons with SCI. In a perturbation that equals deceleration in wheelchair court sports, able bodied persons maintain balance, whereas persons with SCI lose balance. No evidence was found to support a difference in acceleration between persons with partial trunk muscle strength and persons with full trunk muscle strength. For future research, there is a need for a test that includes all types of trunk impairment and identification of activities that determine performance in wheelchair court sports. Furthermore, populations of athletes with all trunk impairment types should be included.

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 speaks Tabarchino, an archaic form of Ligurian dialect. Demographic data indicate that, in the early years of its history, 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 Ychromosome markers confirmed the strong isolation of 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, while the other based on grandparents' criterion, gave different results. Founder surnames sampling is not affected by recent events, and therefore better describes the ancestral population.Whereas, grandparents' criterion sampling gives a picture of the present population, shaped by more recent events, like 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 establish 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, like Carloforte, which can be a paradigm for this type of investigations.Pre-print version. Visit

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