Distribution of α-actinin-3 rs1815739 and angiotensin-1 converting enzyme InDel polymorphisms in Turkish bodybuilders.

BIOMEDICAL REPORTS 13: 67, 2020 Distribution of α‑actinin‑3 rs1815739 and angiotensin‑1 converting enzyme InDel polymorphisms in Turkish bodybuilders TOLGA POLAT1, CANAN SERCAN DOGAN1, MURAT DOGAN2, TEOMAN AKÇAY3 and KORKUT ULUCAN1,4 1 Laboratory of Medical Genetics and Molecular Diagnostics, Üsküdar University, Üsküdar, İstanbul 34662; 2 Department of Child Development, Nisantasi University, Vocational School, Istanbul 34481; 3 Department of Pediatric Endocrinology, İstinye University, Gaziosmanpaşa Medical Park Hospital, Istanbul 34250; 4 Department of Medical Biology and Genetics, Faculty of Dentistry, Marmara University, Istanbul 34854, Turkey Received April 19, 2020; Accepted September 14, 2020 DOI: 10.3892/br.2020.1374 Abstract. The determination of the genetic profiles of successful athletes and the effects of these genetic parameters on athletic performance is gaining increasing interest. The majority of studies assessing the genetics of athletes usually analyse the most well‑known genetic variations in athletes associated with the different specialties. The aim of the present study was to analyse the ACE InDel and ACTN3 rs1815739 polymorphisms in Turkish bodybuilders. A total of 11 male bodybuilders were recruited and genotyped for these poly‑ morphisms. The respective percentage of the ACE II, ID and DD genotypes were 18, 73 and 9. For the ACTN3 genotype, the respective frequencies were 55 and 45 for the RX and RR genotypes. No XX genotype was detected. The allelic counts were 12 (55%) for I and 10 (45%) for the D alleles of ACE; and 12 (55%) and 10 (45%) for R and X alleles, respectively, for the ACTN3 genotype. Additionally, 5 athletes had ID + RX genotypes in terms of ACE InDel and ACTN3 rs1815739 polymorphisms, respectively. These results indicate the importance of endurance related alleles of ACE and ACTN3 in bodybuilders. The results of the present are in agreement with previous studies, highlighting a potential association between specific polymorphisms and the endurance‑related nature of bodybuilders. Further studies with larger cohorts are required to understand the association between these polymorphisms and specific parameters performance in bodybuilders. Introduction Athletic performance is a combination of innate genetic factors as well as several environmental factors, including Correspondence to: Dr Korkut Ulucan, Laboratory of Medical Genetics and Molecular Diagnostics, Üsküdar University, Haluk Turksoy Sok., 14 Altunizade, Üsküdar, Istanbul 34662, Turkey E‑mail: Key words: genetics, polymorphisms, sports genetics, bodybuilder, single nucleotide polymorphism, fitness nutrition, psychological factors and extent of training (1). The current body of research on athletic performance places a heavy focuses on genetic variants that contribute notably to the improved performance of individuals, as well as means of increasing performance (2,3). Sports genetics studies include the determination of genes/gene polymorphisms affecting athletic performance, the determination of the molecular mechanisms regulated by these genes, and the determination of predispositions to enhanced athletic performance. These studies serve an important, role not only in individual sports, but also in nutrition, and in the design of physiological and psychological training programs suitable for the specific genetic profile of an athlete (4,5). Bodybuilding is a process of developing muscle fibres by combining weightlifting, calorie intake and other athletic appli‑ cations. Although the most important characteristic of muscle development is the growth of muscle mass, aesthetics is also an important psychological effect, and the genetic endowment of an individual is one of the most important factor in the forma‑ tion of these features. Strength and endurance are considered to be of utmost importance for successful bodybuilding (6,7). The first major study related to athletic performance assessed the angiotensin converting enzyme (ACE) gene (8). ACE is located at 17q23 and encodes an angiotensin‑1 transducer enzyme that is part of the renin‑angiotensin system, and respon‑ sible for controlling blood pressure by regulating body fluid levels (9). The expression of the enzyme varies amongst indi‑ viduals due to a variation in the gene. The ACE I allele contains a 287 bp Alu family insert and is associated with reduced enzyme activity (9). Conversely, the D allele is associated with increased serum levels and tissue ACE activity (10). The ACE II genotype is predominantly associated with enhanced endurance and increased efficiency of exercise, whereas the DD genotype is associated with increased power and power performance, although the specific effects of these alleles is contested (11,12). One of the most important gene regions affecting athletic performance is the α‑actin‑3 (ACTN3) gene. ACTN3 is located on the long arm of the 11th chromosome (11q13.1), and encodes the α‑actin‑3 protein, which is responsible for the formation of rapid and strong muscle contractions during training that requires explosive muscle strength, such as weightlifting (13). This protein is found in the Z lines of the sarcomeres in skeletal muscle, and is 2 POLAT et al: ACTN3 AND ACE POLYMORPHISMS OF TURKISH BODYBUILDERS involved in the binding of actin fibrils during muscle contraction. Thus, it has a notable role in determining muscle strength (14). The functional R577X polymorphism (rs1815739) occurs as a result of a cytosine‑thymine alteration in the 16th exon of the gene. This single base change, which results in the formation of a stop (X) codon instead of the codon (R) encoding the arginine, constitutes a structural difference in the α‑actin‑3 protein (15). The ACTN3 XX genotype is associated with endurance and the RR genotype is associated with enhanced sprinting ability (16). To the best of our knowledge, the present study is the first to analyse the genetic profiles of Turkish bodybuilders, including assessment of the genetic polymorphisms harboured by them. The aim of the present study was to determine the distribu‑ tion of ACTN3 rs1815739 and ACE InDel polymorphisms in Turkish bodybuilders. Materials and methods Study subjects. In the present study, 11 male bodybuilders (aged 18‑23; three 18 years old volunteers, two 19‑year olds, one 20 year old, three 21 year olds, a 22 year old and one 23 year old) volunteered to take part in the present study which was performed January 2019 and April 2019. The inclusion criteria for the volunteers was that they had to have won at least one medal in any kind of international competition. Athletes who were banned for any kind of doping activity or did not have any success in a competition were excluded from the present study. The bodybuilders recruited had substantial national and inter‑ national success within the last 4 years and were still training actively, with a mean of 6 training sessions per week. The average weight of the bodybuilders was (...truncated)