Association between Complex ACTN3 and ACE Gene Polymorphisms and Elite Endurance Sports in Koreans: A Case–Control Study
Abstract
:1. Introduction
2. Materials and Methods
2.1. Participants
2.2. Blood Sampling and Genomic DNA Extraction
2.3. Genotyping
2.4. Statistical Analysis
3. Results
3.1. Distribution of ACTN3 R577X and ACE I/D Polymorphisms among the Non-Athlete Korean Population and EPEA
3.2. Complex ACTN3-ACE Polymorphisms and Pure Elite Endurance in Koreans
3.3. Genetic Relationships between Complex ACTN3-ACE Genotypes and Elite Pure Endurance in Koreans
4. Discussion
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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EPEA | Controls | ||
---|---|---|---|
(n = 45) | (n = 679) | ||
Sex | |||
Male | 36 (80.0%) | 361 (53.2%) | |
Female | 9 (20.0%) | 318 (46.8%) | |
Age | 20.6 ± 4.4 | 32.6 ± 4.8 | |
Sport events | |||
Marathon | 15 (33.3%) | ||
10,000 m run | 10 (22.2%) | ||
5000 m run | 18 (40.0%) | ||
10~20-kmW | 2 (4.4%) |
Material | Designation | Sequence |
---|---|---|
Primers | ACE 111 a | CCC-ATC-CTT-TCT-CCC-ATT-TCT-C |
ACE 112 b | AGC-TGG-AAT-AAA-ATT-GGC-GAA-AC | |
ACE 113 a | CCT-CCC-AAA-GTG-CTG-GGA-TTA | |
Probes | I allele-specific c | AGG-CGT-GAT-ACA-GTC-A |
D allele-specific d | TGC-TGC-CTA-TAC-AGT-CA |
Complex Genotypes | |||
---|---|---|---|
EDCGs | ENCGs | ERCGs | |
RX+XX/II+DD | RX+XX/ID RR/II+DD | RR/ID | |
EPEA | 23 * (51.1%) | 21 (46.7%) | 1 † (2.2%) |
Controls | 227 (33.4%) | 358 (52.7%) | 94 (13.8%) |
Complex Genotypes | EPEA (n = 45) | Controls (n = 679) | p (Linear by Linear Association) | EPEA vs. Controls | |
---|---|---|---|---|---|
ORs (90% CI) | |||||
RX+XX | II (n = 165) | 15 (33.3%) | 150 (22.1%) | 0.007 | 1.763 (1.037–3.089) |
DD (n = 85) | 8 (17.8%) | 77 (11.3%) | 1.690 (0.863–3.221) | ||
ID (n = 267) | 15 (33.3%) | 252 (37.1%) | 0.847 (0.504–1.468) | ||
RR | II (n = 69) | 1 (2.2%) | 68 (10.0%) | 0.264 (0.051–1.235) | |
DD (n = 43) | 5 (11.1%) | 38 (5.6%) | 2.109 (0.945–4.742) | ||
ID (n = 95) | 1 (2.2%) | 94 (13.8%) | 0.183 (0.036–0.847) |
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Chae, J.H.; Eom, S.-H.; Lee, S.-K.; Jung, J.-H.; Kim, C.-H. Association between Complex ACTN3 and ACE Gene Polymorphisms and Elite Endurance Sports in Koreans: A Case–Control Study. Genes 2024, 15, 1110. https://doi.org/10.3390/genes15091110
Chae JH, Eom S-H, Lee S-K, Jung J-H, Kim C-H. Association between Complex ACTN3 and ACE Gene Polymorphisms and Elite Endurance Sports in Koreans: A Case–Control Study. Genes. 2024; 15(9):1110. https://doi.org/10.3390/genes15091110
Chicago/Turabian StyleChae, Ji Heon, Seon-Ho Eom, Sang-Ki Lee, Joo-Ha Jung, and Chul-Hyun Kim. 2024. "Association between Complex ACTN3 and ACE Gene Polymorphisms and Elite Endurance Sports in Koreans: A Case–Control Study" Genes 15, no. 9: 1110. https://doi.org/10.3390/genes15091110