A genetic predisposition score for muscular endophenotypes predicts the increase in aerobic power after training: the CAREGENE study

Abstract

BackgroundIt is widely accepted that genetic variability might explain a large part of the observed heterogeneity in aerobic capacity and its response to training. Significant associations between polymorphisms of different genes with muscular strength, anaerobic phenotypes and body composition have been reported. Muscular endophenotypes are positively correlated with aerobic capacity, therefore, we tested the association of polymorphisms in twelve muscular related genes on aerobic capacity and its response to endurance training.Methods935 Coronary artery disease patients (CAD) who performed an incremental exercise test until exhaustion at baseline and after three months of training were included. Polymorphisms of the genes were detected using the invader assay. Genotype-phenotype association analyses were performed using ANCOVA. Different models for a genetic predisposition score (GPS) were constructed based on literature and own data and were related to baseline and response VO2 scores.ResultsCarriers of the minor allele in the R23K polymorphism of the glucocorticoid receptor gene (GR) and the ciliary neurotrophic factor gene (CNTF) had a significantly higher increase in peakVO2 after training (p < 0.05). Carriers of the minor allele (C34T) in the adenosine monophosphate deaminase (AMPD1) gene had a significantly lower relative increase (p < 0.05) in peakVO2. GPS of data driven models were significantly associated with the increase in peakVO2 after training.ConclusionsIn CAD patients, suggestive associations were found in the GR, CNTF and the AMPD1 gene with an improved change in aerobic capacity after three months of training. Additionally data driven models with a genetic predisposition score (GPS) showed a significant predictive value for the increase in peakVO2.

Genetic Predisposition Scores Associate with Muscular Strength, Size, and Trainability

“…rs17602729 in the AMPD1 gene and rs1016732 and rs2854248 in the ATP1A2 gene showed a large overlap between the different strength phenotypes. Rs17602729 of the AMPD1 gene has previously been shown to be associated with a diminished aerobic capacity and cardiorespiratory response to exercise (22,28) and a decrease in exercise duration for 20 years (25). Likewise, markers from ATP1A2 were associated with a decrease in exercise duration (25).…”

“…Regular physical activity in cardiac rehabilitation improves aerobic power and skeletal muscle strength and is associated with an increase in survival in these patients (15,18,37). However, individual differences in the response to rehabilitation are large (38), which may be partly related to genetic characteristics (28).…”

Current Progress in Sports Genomics

“…In a study of Rico-Sanz et al [54], subjects with the AMPD1 XX genotype had diminished exercise capacity and cardiorespiratory responses to exercise in the sedentary state. In a study of 935 Coronary artery disease patients, the carriers of the X allele had a significantly lower relative increase in peakVO 2 after 3 months of aerobic training [55]. Finally, two studies reported low frequency of the mutant X allele in a group of top-level Spanish male endurance athletes (cyclists and runners, n ¼ 104) [56] and 127 Polish rowers [57] compared with controls.…”

Can Genetics Predict Sports Injury? The Association of the Genes GDF5, AMPD1, COL5A1 and IGF2 on Soccer Player Injury Occurrence

“…The study involved 289 male soccer players (aged [18][19][20][21][22][23][24][25][26][27][28][29][30][31][32] …”

“…Those with a CC genotype have a normal outcome with no deficiency in the enzyme and those with a T allele have a deficiency in the AMPD1 enzyme. Deficiency in AMPD1 can cause symptoms such as pain, cramping and weakness of muscles after exercise (Sabina et al, 1984;Thomaes et al, 2011). The COL5A1 gene encodes the protein Collagen alpha-1(V) chain, which is involved in the formation of connective tissue in the musculoskeletal system.…”