Are calcineurin genes associated with endurance phenotype traits?

Abstract

Polymorphisms in calcineurin genes are candidates to explain individual variations in endurance phenotype traits owing to the pivotal role that the calcineurin signaling pathway plays in the regulation of important cardiac and skeletal muscle phenotypes such as slow myosin heavy chain expression, skeletal muscle oxidative capacity or cardiac hypertrophy. We studied the possible association of 55 polymorphisms in the calcineurin gene isoforms PPP3CA, PPP3CB, PPP3CC, PPP3R1 and PPP3R2 with both baseline levels and responsiveness to a 18-week endurance training program of maximal oxygen uptake (VO(2)max) and running economy (RE) in healthy young Chinese men [n = 102; mean (SD) age 19 +/- 1 years] of Han origin. We used two-way (genotype, training) ANOVA for repeated measures to compare baseline and trainability of VO(2)max and RE among genotypes of the aforementioned polymorphisms. We found a significant association between (a) baseline VO(2)max and the rs2850965 and rs3804423 polymorphisms in the PPP3CA gene; (b) training responsiveness of VO(2)max and both the rs3804358 polymorphism (PPP3CA) and the rs4671887 polymorphism (PPP3R1); and (c) training responsiveness of RE and rs3739723 (PPP3R2). Though more research is needed, our findings suggest that polymorphisms in the calcineurin genes might be among the numerous potential genetic variant candidates that, together with other factors (e.g., environment, complex genetics interactions), can help explaining human variations in endurance exercise phenotype traits.

Current Progress in Sports Genomics

“…He et al [65,66] conducted two association studies of 55 polymorphisms in five genes encoding the calcineurin protein subunits in a group of 102 healthy young Chinese men of Han origin with VO 2max , running economy and echocardiographic variables measured before and after 18-week endurance training program. Results showed significant association between the PPP3CB gene rs3763679 C/T polymorphism with resting heart rate and PPP3CA gene rs2850965 G/T and rs3804423 A/G polymorphisms with baseline VO 2max .…”

Polymorphisms in the calcineurin genes are associated with the training responsiveness of cardiac phenotypes in Chinese young adults

“…For our study, we selected the tag SNPs using haploview that have a reported minor allele frequency C0.1. This includes a total of 55 SNPs, 34 located in PPP3CA, 3 in PPP3CB, 12 in PPP3CC and 3 in each of PPP3R1 and PPP3R2 (Supplementary File 1) (He et al 2010). …”

Single Nucleotide Polymorphisms within Calcineurin-Encoding Genes are Associated with Response to Aerobic Training in Han Chinese Males

“…Insertion/deletion polymorphisms within the PPP3R1 promoter region have been associated with left ventricular hypertrophy and the sensitivity to training for muscular strength (10,11). Previous reports have also indicated that some variants produce CN with different activity levels and are correlated with better exercise endurance in elite athletes (12,13). However, few studies have investigated the correlation between polymorphisms within the genes encoding CN and response to aerobic training in a general population.…”

“…All participants underwent 5000-meter steady aerobic running outside on a track, 3 times per week, for a total of 18 weeks, as in a prior report (13). Before 5000-meter aerobic running, 2-week adaptive training was performed with 1000-meter and 3000-meter running at the first and second week.…”