scholarly journals CKM Gene rs8111989 Polymorphism and Power Athlete Status

Genes ◽  
2021 ◽  
Vol 12 (10) ◽  
pp. 1499
Author(s):  
Valentina Ginevičienė ◽  
Audronė Jakaitienė ◽  
Algirdas Utkus ◽  
Elliott C. R. Hall ◽  
Ekaterina A. Semenova ◽  
...  

Multiple genetic variants are known to influence athletic performance. These include polymorphisms of the muscle-specific creatine kinase (CKM) gene, which have been associated with endurance and/or power phenotypes. However, independent replication is required to support those findings. The aim of the present study was to determine whether the CKM (rs8111989, c.*800A>G) polymorphism is associated with power athlete status in professional Russian and Lithuanian competitors. Genomic DNA was collected from 693 national and international standard athletes from Russia (n = 458) and Lithuania (n = 235), and 500 healthy non-athlete subjects from Russia (n = 291) and Lithuania (n = 209). Genotyping for the CKM rs8111989 (A/G) polymorphism was performed using PCR or micro-array analysis. Genotype and allele frequencies were compared between all athletes and non-athletes, and between non-athletes and athletes, segregated according to population and sporting discipline (from anaerobic-type events). No statistically significant differences in genotype or allele frequencies were observed between non-athletes and power athletes (strength-, sprint- and speed/strength-oriented) athletes. The present study reports the non-association of the CKM rs8111989 with elite status in athletes from sports in which anaerobic energy pathways determine success.

2017 ◽  
Vol 46 (2) ◽  
pp. 402-408 ◽  
Author(s):  
Caitlin Rugg ◽  
Adarsh Kadoor ◽  
Brian T. Feeley ◽  
Nirav K. Pandya

Background: Athletes who specialize in their sport at an early age may be at risk for burnout, overuse injury, and reduced attainment of elite status. Timing of sport specialization has not been studied in elite basketball athletes. Hypothesis: National Basketball Association (NBA) players who played multiple sports during adolescence would be less likely to experience injury and would have higher participation rates in terms of games played and career length compared with single-sport athletes. Study Design: Descriptive epidemiology study. Methods: First-round draft picks from 2008 to 2015 in the NBA were included in the study. From publically available records from the internet, the following data were collected for each athlete: participation in high school sports, major injuries sustained in the NBA, percentage of games played in the NBA, and whether the athlete was still active in the NBA. Athletes who participated in sports in addition to basketball during high school were defined as multisport athletes and were compared with athletes who participated only in basketball in high school. Results: Two hundred thirty-seven athletes were included in the study, of which 36 (15%) were multisport athletes and 201 (85%) were single-sport athletes in high school. The multisport cohort played in a statistically significantly greater percentage of total games (78.4% vs 72.8%; P < .001). Participants in the multisport cohort were less likely to sustain a major injury during their career (25% vs 43%, P = .03). Finally, a greater percentage of the multisport athletes were active in the league at time of data acquisition, indicating increased longevity in the NBA (94% vs 81.1%; P = .03). Conclusion: While a minority of professional basketball athletes participated in multiple sports in high school, those who were multisport athletes participated in more games, experienced fewer major injuries, and had longer careers than those who participated in a single sport. Further research is needed to determine the reasons behind these differences.


Genes ◽  
2021 ◽  
Vol 12 (6) ◽  
pp. 919
Author(s):  
Jakub P. Fichna ◽  
Kinga Humińska-Lisowska ◽  
Krzysztof Safranow ◽  
Jakub G. Adamczyk ◽  
Paweł Cięszczyk ◽  
...  

Numerous genetic factors have been shown to influence athletic performance, but the list is far from comprehensive. In this study, we analyzed genetic variants in two genes related to mental abilities, SLC6A2 (rs1805065) and SYNE1 (rs2635438) in a group of 890 athletes (320 endurance, 265 power, and 305 combat athletes) vs. 1009 sedentary controls. Genotyping of selected SNPs was performed using TaqMan SNP genotyping assays. SLC6A2 codes for norepinephrine transporter, a protein involved in modulating mood, arousal, memory, learning, and pain perception, while SYNE1 encodes protein important for the maintenance of the cerebellum—the part of the brain that coordinates complex body movements. Both SNPs (rs2635438 and rs1805065) showed no statistically significant differences between the frequencies of variants in the athletes and the sedentary controls (athletes vs. control group) or in the athlete subgroups (martial vs. control, endurance vs. control, and power vs. control). The rs1805065 T variant of SLC6A2 was found to be overrepresented in male high-elite martial sports athletes when compared to sedentary controls (OR = 6.56, 95%CI = 1.82–23.59, p = 0.010). This supports the hypothesis that genetic variants potentially affecting brain functioning can influence elite athletic performance and indicate the need for further genetic association studies, as well as functional analyses.


2012 ◽  
Vol 48 (3) ◽  
pp. 369-377 ◽  
Author(s):  
André Katayama Yamada ◽  
Rozangela Verlengia ◽  
Carlos Roberto Bueno Junior

Since its discovery, myostatin (MSTN) has been at the forefront of muscle therapy research because intrinsic mutations or inhibition of this protein, by either pharmacological or genetic means, result in muscle hypertrophy and hyperplasia. In addition to muscle growth, MSTN inhibition potentially disturbs connective tissue, leads to strength modulation, facilitates myoblast transplantation, promotes tissue regeneration, induces adipose tissue thermogenesis and increases muscle oxidative phenotype. It is also known that current advances in gene therapy have an impact on sports because of the illicit use of such methods. However, the adverse effects of these methods, their impact on athletic performance in humans and the means of detecting gene doping are as yet unknown. The aim of the present review is to discuss biosynthesis, genetic variants, pharmacological/genetic manipulation, doping and athletic performance in relation to the MSTN pathway. As will be concluded from the manuscript, MSTN emerges as a promising molecule for combating muscle wasting diseases and for triggering wide-ranging discussion in view of its possible use in gene doping.


2008 ◽  
Vol 7 (3) ◽  
pp. 229
Author(s):  
J.A. Hipp ◽  
J.D. Hipp ◽  
J.J. Yoo ◽  
A. Atala ◽  
K.E. Andersson

2003 ◽  
Vol 1014 (1-2) ◽  
pp. 1-9 ◽  
Author(s):  
K. Pappaert ◽  
J. Vanderhoeven ◽  
P. Van Hummelen ◽  
B. Dutta ◽  
D. Clicq ◽  
...  

2014 ◽  
Author(s):  
Unentsatsral Lkhagvasuren ◽  
Sarantuya Jav ◽  
Ochbadrakh Batjargal ◽  
Myagmarsuren Batsukh

In this study, we have investigated the association between osteoporosis and estrogen receptor 1 (ER1) 397 T>C, and calcitonin receptor (CALCR) 1340 T>C polymorphisms. Genomic DNA was obtained from 104 persons (52 osteoporotic and 52 healthy controls). Genomic DNA was extracted from EDTA-preserved peripheral venous blood of patients and controls and analyzed by PCR-RFLP. As a result, there was no statistically significant difference in the genotype and allele frequencies of patients and controls for ER1 397 T>C and CALCR 1340 T>C polymorphisms. ER1 CC and TC single nucleotides genotypes compared with TT genotypes was found more significantly women with osteoporosis [p=0.016; p=0.0046, OR=2.66; 0.44, 95% CI 1.185-5.988; 0.199-0.991)]. There was no statistically significant difference in the genotype and allele frequencies of patient and controls for ER1 combined nucleotides [p=0,148, OR=1.051, 95% CI (0.993–1.112)]. Our study showed that CALCR genes single and combined nucleotides genotypes were not significant women with osteoporotic and healthy postmenopausal women.


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