The current study investigated the association between vitamin-D-receptor (VDR) genotypes with bone-mineral density (BMD) and its interaction with physical activity level (PAL). Individuals in a sample of 192 volunteers (67.84 ± 5.23 years) underwent BMD evaluation and were genotyped for VDR ApaI, BsmI, FokI, and TaqI polymorphisms. Haplotypes were reconstructed through expectation-maximization algorithm, and regression-based haplotype-specific association tests were performed with studied phenotypes. None of the polymorphisms were associated with BMD at any site; however, haplotype was associated with femoral-neck and Ward’s-triangle BMD. Interaction between PAL and VDR genotypes was significant for the FokI polymorphism at femoral-neck and Ward’s-triangle BMD. The FokI T/T genotype was associated with higher BMD in active women. It was concluded that VDR haplotypes, but not genotypes, are associated with femoral-neck and Ward’s-triangle BMD in post-menopausal women. Moreover, the results suggest that VDR FokI polymorphism might be a potential determinant of BMD response to physical activity.
Paulo Gentil, Tulio Cesar de Lima Lins, Ricardo Moreno Lima, Breno Silva de Abreu, Dario Grattapaglia, Martim Bottaro, Ricardo Jacó de Oliveira and Rinaldo Wellerson Pereira
James C. Brown, Caron-Jayne Miller, Michael Posthumus, Martin P. Schwellnus and Malcolm Collins
Endurance running performance is a multifactorial phenotype that is strongly associated with running economy. Sit and reach range of motion (SR ROM) is negatively associated with running economy, suggesting that reduced SR ROM is advantageous for endurance running performance. The COL5A1 gene has been associated with both endurance running performance and SR ROM in separate cohorts. The aim of this study was to investigate whether COL5A1 is associated with ultra-marathon running performance and whether this relationship could be partly explained by prerace SR ROM.
Seventy-two runners (52 male, 20 female) were recruited from the 56 km Two Oceans ultra-marathon and were assessed for prerace SR ROM. The cohort was genotyped for the COL5A1 BsfUI restriction fragment length polymorphism, and race times were collected after the event.
Participants with a TT genotype (341 ± 41 min, N = 21) completed the 56 km Two Oceans ultra-marathon significantly (P = 0.014) faster than participants with TC and CC genotypes (365 ± 39 min, N = 50). The COL5A1 genotype and age accounted for 19% of performance variance. When the cohort was divided into performance and flexibility quadrants, the T allele was significantly (P = 0.044) over-represented within the fast and inflexible quadrant.
The COL5A1 genotype was found to be significantly associated with performance in a 56 km ultra-endurance run. This study confirms previous findings and it furthers our understanding of the relationships among ROM, COL5A1, and endurance running performance. We continue to speculate that the COL5A1 gene alters muscle-tendon stiffness.
Gustavo Monnerat, Alex S. Maior, Marcio Tannure, Lia K.F.C. Back and Caleb G.M. Santos
was performed using R Package 3.02. In the analysis, the genotypes were grouped according to the dominant genetic model, due to low frequency of some alleles decreasing the possibility of sample selection error. Results Traditional Genetic Association Studies Approach For most physiological parameters
Mohanraj Krishnan, Andrew N. Shelling, Clare R. Wall, Edwin A. Mitchell, Rinki Murphy, Lesley M.E. McCowan and John M.D. Thompson
with body fat (sedentary: P = .518 and moderate: P = .900). Therefore, the remainder of this study was confined to gene-by-physical activity interactions in relation to PBF scores in 6-year-old New Zealand European children. Genetic Association With Physical Activity We evaluated the relationship
Gil Rodas, Lourdes Osaba, David Arteta, Ricard Pruna, Dolors Fernández and Alejandro Lucia
(including the soccer World Cup or Champions League). In turn, our findings cannot be generalized to athletes of a lower competition level, and thus, studies using a similar approach are needed in nonelite athletic populations. On the other hand, it must be highlighted that genetic association studies do not
Alon Eliakim, Bareket Falk, Neil Armstrong, Fátima Baptista, David G. Behm, Nitzan Dror, Avery D. Faigenbaum, Kathleen F. Janz, Jaak Jürimäe, Amanda L. McGowan, Dan Nemet, Paolo T. Pianosi, Matthew B. Pontifex, Shlomit Radom-Aizik, Thomas Rowland and Alex V. Rowlands
to aerobic fitness ( 140 ). Such findings may prompt one to speculate whether there is a genetic association between aerobic fitness and CFTR mutation, presumably beneficial. Indeed, 1 study showed CF patients with 1 copy of the most common mutation (F508del, a class II mutation) had significantly