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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 polymorphisms. 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. WOS:000595451200008 33149911

Studies in sports genetics have increased nowadays and the identification of genotype and allelic distributions of candidate genes in different athletes has provided important information to sports scientists. One of the candidate genes studied in sports genetics is the hypoxia-inducible factor 1-alpha (HIF1A) gene, which is associated with the endurance phenotype. In our study, we aimed to determine the genotypic and allelic distribution of HIF1A rs11549465 polymorphism in Turkish Elite cross-country athletes. 34 (23 male, 11 female) athletes were included in the study, and 1 cc of blood samples taken for routine analysis after the approval of the ethics committee was used for DNA isolation. The commercial kit was used for DNA isolation and genotyping was performed by Real-time PCR method. The number and percentage of CC, CT and TT genotypes of the HIF1A rs11549465 polymorphism were 24 (72.72%), 8 (24.24%) and 1 (3.03), respectively. In male skiers CC, CT and TT genotype numbers and percentages were determined as 17 (55.51%), 4 (12.12%) and 1 (3.03%) respectively. In female, CC and TT genotypes were determined as 7 (21.21%) and 4 (12.12%). We detected no TT genotype in female athletes. When we look at allel numbers, C allele was determined as 56 (84.84%) and T allele was determined as 10 (15.15%). This is the first study on HIF1A rs11549465 polymorphism on Turkish elite ski cross-country athletes. The higher prevalence of CC genotype and C allele in the athlete group is similar to the previous studies on different groups of athletes. We believe that this study will be an important reference for further studies.

Katekol-O-Metil Transferaz (COMT) katekolamin nörotransmitterlerin (dopamin, epinefrin,norepinefrin) inaktivasyonunda rol alır. COMT genindeki keşfedilen fonksiyonel polimorfizmlerin COMTenzim aktivitesinde değişime sebep olduğu bilinmektedir. Çalışmamızda, COMT geninin Val(108/158)Met rs4680 polimorfizmi profesyonel voleybolcularda incelenmiş ve COMT rs4680 polimorfizmininvoleybolcularda genotip ve allel dağılımlarının belirlenmesi amaçlanmıştır. Bu kapsamda 21 profesyonelvoleybol sporcumuz çalışmamıza katılmıştır. Genotipleme çalışması Swab DNA izolasyonu sonrasındagerçek zamanlı polimeraz zincir reaksiyonu (RT-PCR) ile tamamlanmıştır. Araştırmamızın sonuçlarınagöre sporcularımızda AA, AG ve GG genotip dağılımları; 6 sporcumuzda (%29) GG, 7 sporcumuzda (%33)GA ve 8 sporcumuzsa ise (%38) AA genotipi saptanmıştır. Allellik dağılımlarında ise G Alleli 19 (%45) veA Alleli 23(%55) olarak bulunmuştur. Kohortumuzda AA genotipi diğer genotiplere göre, A alleli G allelinegöre daha yüksek bulunmuştur. Bulgularımıza göre voleybol sporcularının düşük aktiviteli AA genotipininfazla bulunması voleybol sporuna yatkınlık için biyolojik belirteç olabileceğini kanıtlanmıştır. ÇalışmamızCOMT rs4680 polimorfizminin voleybolcularda etkisini inceleyen ilk araştırma niteliğindedir., Catechol-O-Methyl Transferase (COMT) is involved in the inactivation of catecholamine neurotransmitters(dopamine, epinephrine, norepinephrine). The discovered functional polymorphisms in the COMTgene are known to cause changes in COMT enzyme activity. In our study, the Val (108/158) Met rs4680polymorphism of the COMT gene was examined in professional volleyball players and it was aimed todetermine the genotype and allele distributions of COMT rs4680 polymorphism in volleyball players.In this context, 21 professional volleyball athletes participated in our study. The genotyping study wascompleted with real-time polymerase chain reaction (RT-PCR) after swab DNA isolation. According tothe results of our study, AA, AG and GG genotype distributions in our athletes; In 6 of our athletes (29%),7 of our athletes (33%) had GA and 8 of our athletes (38%) had AA genotype. When we look at the allelnumbers of our volleyball players, G Allele was 19 (45%) and A Allele 23 (55%). AA genotype in ourcohort was higher than other genotypes, compared to A allele G allele. According to our findings, volleyballathletes’ low activity AA genotype has been proved to be a biomarker for predisposition to volleyball sport.Our study is the first research to examine the effect of COMT rs4680 polymorphism on volleyball players.

Actins are small globular filaments functioning in cell processes like muscle contraction, and stabilized to the sarcomeric Z- discs by actin binding proteins (actinins). One of the important gene coding for actin binding proteins in fast twitch fibers is alpha- actinin- 3 (ACTN3). In this research, we have conducted a gene profile study investigating the genotype and allele distributions of ACTN3 R577X polymorphism in Turkish professional hip- hop and latin dancers and compared them to non-dancers as a control group. 30 professional dancers and non-dancers were recruited for the study. A genotyping procedure was carried out by a newly introduced four-primer PCR methodology. For statistical analysis, the Chi-square test was used to compare data between the groups (p

The objective of this study is to investigate allele distributions of the rs2069514 and rs762551 polymorphisms of the CYP1A2 gene which affect caffeine metabolism in long-distance and short-distance runners in the Turkish population. 20 professional athletes in total were included in the study within the age range of 18-24, 10 of whom were long-distance (female, n=5; Male, n=5) and 10 of whom were short-distance (Female, n=5; Male, n=5) runners. DNA isolation from the athletes was performed from peripheral blood samples and genotyping was determined using the technique of Real Time-PCR. According to the obtained data, the ratio of individuals having AA (n=6), GG (n=9) and AG (n=5) genotype for the region of rs2069514 was found as 30%, 45% and 25% respectively. On the other hand, the ratio for AA (n=4), CC (n=9) and AC (n=7) genotypes in the region of rs762551 allele was determined as 20%, 45% and 35%. According to the results, no significant variance regarding gender was found for either of the different polymorphisms under study in long-distance and short-distance runners while the genotype distributions varied between short and long-distance runners only in the rs2069514 polymorphism. The GG genotype was observed in 9 short-distance runners while it was observed in none of the long-distance runners. As a result, the fact that the GG genotype in case of the Rs2069514 polymorphism was observed in nine of the ten short-distance runners suggests that the athletes in this group metabolize caffeine slowly and this should be considered in the caffeine intake.

Interleukin-6 (IL-6) is a kind of multifunctional cytokine and involved in mediating muscle repair metabolism, and therefore athletic capacity. Muscular and circulating IL-6 levels increase in response to physical exercise. Responsible gene coding for IL-6 has a functional polymorphism in its promoter region, -174 G/C (rs1800795). We aimed to analyze the association of G allele and GG genotype in Turkish professional athletes and compare the allelic and genotypic difference between short distance and long distance runners. For this purpose, we enrolled 40 (24 short distance runners and 16 long distance runners) Turkish professional athletes to the study. Real time genotyping procedure was carried out to determine the -174 G/C polymorphism. G allele and GG genotype was more prevalent than the others in our cohort. We found no statistically significant difference between short and long distance runners in the terms of genotype (p=0.07). Our study suggests that-174 G/C polymorphism of IL-6 gene differs in athletes, G allele and GG genotype is higher than the other ones, at least in Turkish athletes, and therefore should be taken into consideration when determining genetic aspects of athletes. Further studies are necessary to confirm our results and show the effect of the given polymorphism in sports science.

Athletic performance is associated with many environmental factors such as inborn genetic factors, nutrition, psychological factors, and education. We aimed to analyze the brain-derived neurotrophic factor (BDNF) rs6265 polymorphism, which is an important genetic marker related to psychological factors, in 21 professional female volleyball players and compare it with the control group. Genotyping was assessed by real-time polymerase chain reaction technique. BDNF rs6265 polymorphism genotypes were calculated as 72% and 28% for GG and GA in volleyball players, respectively. No AA genotype was detected. In the control group, the GG, GA, and AA genotype percentages were calculated as 57.8, 36.3, and 5.9, respectively. In the allelic distribution, the percentages in the athlete group were calculated as 86% (36) for the G allele and 14% (6) for the A allele, respectively. In the control group, for the G and A alleles, respectively, it was 76.25% and 23.75%. No statistical significance was found in terms of both genotype distribution (P = 0.407) and allelic frequency distribution (P = 0.218). Our results were in line with data indicating the stress and anxiety-related nature of professional volleyball players. More studies with more athletes and more groups of athletes are needed to understand the effect of these parameters on volleyball players.

Oz Calismamizda, voleybolcularda serotonin tasiyici protein geni (SLC6A4) promotor L/S polimorfizminin genotip ve allel daǧilimlarini belirlemeyi ve literaturde bulunan onceki calismalar ile karsilastirmayi hedefledik. Bu amacla calismamiza 21 voleybolcu katildi. Genotipleme islemi, yanak ici epitel hucrelerinden DNA elde edildikten sonra PCR ile gerceklestirilmistir. Literatur taramasi Google Akademik ve PUBMED veri tabanlarinda “spor, sporcu, genetik, SLC6A4, spor genetiǧi, polimorfizm” anahtar kelimeler ve kombinasyonlari ile yapilmistir. Kohortumuzda LL, LS ve SS genotipleri sayi ve yuzde olarak sirasiyla 10 (%48), 7 (%33) ve 4 (%19) olarak bulundu. L ve S allel sayi ve yuzdeleri ise sirasiyla 27 (%64) ve 15 (%36) olarak bulunmustur. Yapilan literatur aramasi ile 9 farkli calisma kriterlerimize uygun bulunmus ve bulgularimiz ile karsilastirilmistir. Sonuc olarak, genotip daǧilimi acisindan SS genotipinin yuzdece dusuk olmasi, diǧer calismalar ve bizim bulgularimiz ile ortaktir. Sadece bir calismada S alleli yuzdece daha fazla bulunmustur. Son donemlerde yapilan calismalar “S” allelinin anksiyete ile iliskilendirildiǧini gostermistir. Calismamiz, voleybolculardaki LL genotip ve L allelinin, SS genotip ve S allelinden yuzdece daha yuksek olduǧunu gosteren ilk rapordur. Anahtar Kelimeler: genetik, spor genetiǧi, serotonin, voleybol, polimorfizm We aimed to determine the genotype and allele distributions of the serotonin transporter protein gene (SLC6A4) promoter L/S polymorphism in volleyball players and compare it with the previous studies in the literature in this study. For this purpose, 21 volleyball players participated in our study. Genotyping was performed by PCR after DNAs were isolated from buccal cells. The literature review has been done in Google Scholar and PUBMED databases with the keywords and combinations of “sports, athletes, genetics, SLC6A4, sports genetics, polymorphism”. In our cohort, LL, LS and SS genotypes were found in numbers and percentages as 10 (48%), 7 (33%) and 4 (19%), respectively. The respective L and S allele count numbers and percentages were 27 (64%) and 15 (36%). 9 different studies matched our criteria and compared with our findings with literature review. As a result, the low percentage of SS genotype in terms of genotype distribution was common with the previous studies and our findings. The S allele percentage was higher than our results just in one research. Recent studies have shown that the “S” allele is associated with anxiety. Our study was the first report to show that the LL genotype and L allele in volleyball players are higher than the SS genotype and S allele.

Background: The anxiety level of an athlete is important. The serotonin transporter protein is encoded by the SLC6A4 gene. Serotonin is one of the most important members of anxiety metabolism. Serotonin transporter protein plays a role in bringing serotonin back from the synaptic space to the presynaptic neuron. Aims: We aimed to determine the genotype and allele distributions of the SLC6A4 promoter L/S polymorphism in football players and compare it with the control group. For this purpose, 20 football players participated in our study. Materials and Methods: Genotyping was performed by PCR after DNAs were isolated from buccal epithelial cells. Results: When we examined the genotype distributions, the LL, LS and SS were found as 4 (20%), 8 (40%) and 8 (40%), respectively. In the control group, the same genotype number and percentages were determined as 10 (23%), 25 (57%) and 9 (20%), respectively. In terms of genotype distribution, no statistically significant significance was found between the two groups (p = 0.2493). When allelic distributions were examined in the athlete group, the L allele was counted as 16 (40%) and the S allele as 24 (60%). In the control group, the L allele 45 (51%) and the S allele were counted as 43 (49%). When the two groups were compared statistically in terms of allelic distribution, no statistically significant difference was found (p = 0.2423). Conclusion: As a result, LS and SS genotype were co-dominant and at the same time higher than LL genotype. At the same time, when we compared the S allele with the L allele, it was found that the S allele was more in percentage. Studies have found that the S allele is associated with anxiety. Sports psychologist can support athletes with S allele who are prone to anxiety problems. This is the first study to report that S allele is more common than L allele in Turkish football players.

We aimed to analyze the allelic distribution of solute carrier family-6 member-4 promoter region in Turkish athletes. Recent studies showed the association of lesser expressing "S" allele with anxiety. Genotype percentages for LL, LS and SS genotypes were found as 46, 35 and 19, respectively. 38% of the males had LL, %38 had LS and 24% had SS genotypes. Percentages of LL, LS and SS genotypes were 54, 31 and 15 in females, respectively. 15 (58%) male and 18 (69%) females had L, 11 (42%) male and 8 (31%) females had S alleles. Variations in the association of the SLC6A4 alleles with neuropsychiatric disorders according to different nationalities have been reported. This is the first report showing that LL genotype and L allele in Turkish athletes was more frequent than SS genotype and S allele.

The aim of this study was to determine the allelic distribution of alpha- actinin-3 (ACTN3) R577X and angiotensin converting enzyme (ACE) I/D polymorphisms in a total of 24 elite young basketball players, 17 female and 7 male. DNA samples from the players were isolated from buccal cells by using commercial DNA isolation kit. Genotyping process for ACTN3 was carried out by polymerase chain reaction- restriction fragment length polymorphism (PCR- RFLP), and PCR for ACE. 16 of the examined players had RR, 6 had RX and 2 of the players had XX genotype for the ACTN3 R577X polymorphism. When we examine them according to genders, 11 of the 17 female players had RR, 4 had RX and 2 had XX genotypes. For males, 5 and 2 players had RR and RX genotypes, respectively. For ACE, 11 players were DD, 12 were ID and only one of them was II. 7 had DD and 10 had ID genotypes for the females; 4 had DD, 2 had ID and only one had II genotype. R allele of the ACTN3 was counted as 26 in females and 12 in males, whereas X allele was 8 in females and 2 in males. For ACE, D allele was counted as 24 in females and 10 in males, whereas I allele counted as 10 in females and 4 in males. Our results showed that ACTN3 RR genotype and R allele,ACE ID geotype and D allele dominated in our cohort. We hope that this first pilot study carried out in basketball players will guide further studies with extended numbers of players., Çalışmamızda 17’si kız, 7’ si erkek 24 genç basketbol oyuncusunda alfa- aktinin-3 (ACTN3) R577X ve anjiyotensin dönüştürücü enzim (ACE) I/D polimorfizmlerinin dağılımlarının belirlemeyi amaçladık. Çalışmamıza gönüllü katılan oyunculardan DNA eldesi, ağız içi epitel hücrelerinden ticari kit kullanılarak gerçekleştirilmiştir. ACNT3 genotiplemesi için polimeraz zincir reaksiyonu- restriksiyon enzimi kesimi (PCR- RFLP) metodu, ACE içinse PCR metodu kullanılmıştır. ACTN3 genotipi için 16 oyuncu RR, 6’ sı RX ve 2 oyuncu da XX olarak bulunmuştur. Cinsiyetlerine göre ayırdığımızda 17 kız oyuncunun 11’i RR, 4’ü RX ve 2’si XX, erkeklerde disise 5 ve 2 oyuncu sırasıyla RR ve RX genotiplerinde bulunmuştur. ACE için, 11 oyuncu DD, 12 oyuncu ID ve sadece 1 oyuncu II genotipindedir. Cinsiyetlerine göre incelediğimizde kızlarda 7 oyuncu DD, 10 oyuncu ID genotipinde, erkelerde ise 4 oyuncu DD, 2 oyuncu ID ve yalnız 1 oyuncu II genotipindedir. ACTN3 R alleli kızlarda 26, erkeklerde 12, X alleli ise kızlarda 8, erkeklerde 2 olarak bulunmuştur. ACE genotipi için D alleli kızlarda 24, erkeklerde 10, I alleli ise kızlarda 10 ve erkeklerde 4 olarak saptanmıştır. Bu çalışmamızda ACTN3 DD genotipinin ve R alleinin, ACE polimorfizminde ise ID genotipinin ve D alleinin çalışma grubunda daha baskın olduğu görülmüştür. Bu oyuncu grubunda ilk kez gerçekleştirilen bu pilot çalışma ile bundan sonra daha yüksek veri kaynaklı çalışmalara ışık tutacağı inancındayız.

Angiotensin-1 converting enzyme (ACE) gene and α-actinin-3 (ACTN3) gene polymorphisms are considered to be the most important candidate genes for genetic predisposition to human athletic performance. In the present study, we aimed to analyze the distribution of ACE and ACTN3 polymorphisms for the first time in male Turkish soccer players. In this prospective study, our cohort consisted of 25 professional players, all with Turkish ancestry. Polymerase chain reaction (PCR)-restriction length polymorphism was used for the characterization of the genotype of ACTN3 and single PCR for ACE. For ACE genotype, 16%, 44%, and 40% of the players had insertion/insertion (II), insertion/deletion (ID), and deletion/deletion (DD) genotypes, respectively, whereas 20% had XX, 36% had RX, and 44% had RR genotypes for ACTN3. When we examined the allelic percentages, for ACE, D allele was recorded as 62 and I as 38, and for ACTN3, R allele was 62 and X was 38. Our results were in agreement with the previous reports, indicating the presence of ACTN3 D and ACE X allele in soccer players. We suggest that ACE and ACTN3 genotypes are important biomarkers for genetic counseling for the individuals who are prone to be successful soccer players.