Athlome Project Consortium: a concerted effort to discover genomic and other "omic" markers of athletic performance.

Despite numerous attempts to discover genetic variants associated with elite athletic performance, injury predisposition, and elite/world-class athletic status, there has been limited progress to date. Past reliance on candidate gene studies predominantly focusing on genotyping a limited number of single nucleotide polymorphisms or the insertion/deletion variants in small, often heterogeneous cohorts (i.e., made up of athletes of quite different sport specialties) have not generated the kind of results that could offer solid opportunities to bridge the gap between basic research in exercise sciences and deliverables in biomedicine. A retrospective view of genetic association studies with complex disease traits indicates that transition to hypothesis-free genome-wide approaches will be more fruitful. In studies of complex disease, it is well recognized that the magnitude of genetic association is often smaller than initially anticipated, and, as such, large sample sizes are required to identify the gene effects robustly. A symposium was held in Athens and on the Greek island of Santorini from 14-17 May 2015 to review the main findings in exercise genetics and genomics and to explore promising trends and possibilities. The symposium also offered a forum for the development of a position stand (the Santorini Declaration). Among the participants, many were involved in ongoing collaborative studies (e.g., ELITE, GAMES, Gene SMART, GENESIS, and POWERGENE). A consensus emerged among participants that it would be advantageous to bring together all current studies and those recently launched into one new large collaborative initiative, which was subsequently named the Athlome Project Consortium

Does the A9285g Polymorphism in Collagen Type XII α1 Gene Associate with the Risk of Anterior Cruciate Ligament Ruptures?

One of the most severe injuries sustained by athletes is rupture of the anterior cruciate ligament (ACL). Recent investigations suggest that a predisposition for ACL rupture may be the result of specific genetic sequence variants. In light of this, we decided to investigate whether the COL12A1 A9285G polymorphism was associated with ACL ruptures in Polish football players

Association of COL5A1 gene polymorphisms and risk of tendon-ligament injuries among Caucasians: a meta-analysis

Abstract Background Tendons and ligaments are common sites of musculoskeletal injuries especially during physical activity. The multifactorial etiology of tendon-ligament injury (TLI) includes both genetic and environmental factors. The genetic component could render influence on TLI risk to be either elevation or reduction. Objective Inconsistency of reported associations of the collagen type V alpha 1 chain (COL5A1) polymorphisms, mainly rs12722 (BstUI) and rs13946 (DpnII), with TLI warrant a meta-analysis to determine more precise pooled associations. Methods Multi-database literature search yielded eight articles (11 studies) for inclusion. Pooled odds ratios (ORs) and 95% confidence intervals were used to estimate associations. Heterogeneity of outcomes warranted examining their sources with outlier treatment. Results All rs12722 effects indicated reduced risk (OR < 1.0). The significant outcomes (ORs 0.59–0.77, p = 0.0009–0.04) in the pre-outlier analysis were non-heterogeneous (p > 0.10). The non-significant and heterogeneous (ORs 0.63–0.98, p = 0.13–0.95; up to I 2 = 86%) pre-outlier rs12722 and rs13946 results became significant (ORs 0.32–0.78, p = 10−5−0.01) and heterogeneity eliminated (I 2 = 0%) with outlier treatment. Significant associations (ORs 0.26–0.65, p = 0.002–0.03) were also observed in other COL5A1 polymorphisms (rs71746744 and rs16399). Sensitivity analysis deemed all significant outcomes to be robust. Conclusions In summary, COL5A1 polymorphisms reduce the risk of TLI among Caucasians. These findings are based on the evidence of significance, homogeneity, consistency, and robustness. Additional studies are warranted to draw more comprehensive conclusions