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Background: Athletic performance can be improved with regular training, the contribution of genetic factors, nutrition and psychological factors. The aim of this study is to determine the effect of IL-6 rs1800795 polymorphism in Turkish swimmers and to compare the results with sedentary individuals. Material and Methods: 75 people, including 45 professional swimmers and 30 healthy and sedentary individuals (control), participated in the study. DNA isolation from buccal specimens of athletes was performed using the commercial kit Invitrogen (Van Allen Way, Carlsbad, CA, USA). Genotyping was performed with real-time PCR. Results: GG genotype and G allele were found to be higher in athletes. GG genotype and G allele were found to be higher in the control group. There was no statistically significant difference between the athletes and controls in terms of IL-6 rs1800795 polymorphism. In our study, when the IL-6 rs1800795 gene polymorphism was compared between the groups in terms of swimming styles-distances and genotypes, no significant difference was found. Conclusion: Our study is the first to analyze the IL-6 rs1800795 polymorphism in Turkish swimmers. More studies are needed in terms of IL-6 rs1800795 to reveal the importance of genetic factors in determining the sports performance of the athlete and to clarify their effects on athletic performance. This first report, which includes relevant genetic markers and swimmers, will guide scientists for further studies. Keywords: Genetics, Polymorphisms, Sports Genetics, Single Nucleotide Polymorphism, Swimmers, IL-6

Bu çalışmanın amacı, elit kayaklı koşucularda PPAR-a (rs4253778) serum lipidleri üzerindeki etkilerini incelemektir. Bu çalışmaya 34 kayaklı koşu sporcusu (Türkiye kayak milli takım kampına katılan 23 erkek ve 11 kadın) dahil edildi. PPAR-a geni rs4253778 G/C polimorfizmi için genotipleme, Tercyk multicanal amplifikatör ve restriksiyon enzim sindirimi üzerinde PCR ile gerçekleştirildi. İstatistiksel analiz SPSS 22.0 paket programı kullanılarak yapıldı. Kayaklı koşucularda PPAR-a polimorfizminin genotipik frekansı tespit edildi. 34 kayaklı koşucuda PPAR-a GG, GC ve CC genotipleri sırasıyla %67,64, %23,52 ve % 8,82 tespit edildi. PPAR-a GG, GC ve CC genotipleri erkeklerde sırasıyla %47,05, %16,64 ve %2,94 olarak tespit edilirken kadınlarda PPAR-a GG, GC ve CC genotipleri sırasıyla %20,58, %5,88 ve %5,88 olarak tespit edildi. PPAR-a G ve C alleli 34 elit dayanıklılık sporcusunda sırasıyla 49 ve 19 olarak tespit edildi. Bu çalışmada, GG genotipleri elit sporcularda (sırasıyla %67,64) GC ve CC'den (sırasıyla %23,52 ve %8,82) daha yüksek frekanslarda olduğu tespit edildi. Türk elit kros kayakçılarının PPAR-a G/C gen polimorfizmi ile serum toplam kolesterol, HDL-kolesterol, LDL-kolesterol ve TG seviyeleri arasındaki istatistiksel olarak anlamlı bir fark tespit edilmedi. Türk elit kayaklı koşucuların PPAR-a G/C gen polimorfizmi ile lipid profilleri arasında istatistiksel olarak anlamlı bir fark olmamasına rağmen, PPAR-α geninin dayanıklılık gerektiren sporlarda dayanıklılık performansı üzerinde önemli bir etkiye sahip olduğu öngörülmektedir., The purpose of this study was to examine the effects of PPAR-a (rs4253778) on serum lipids in elite cross-country skiers. This study included 34 cross-country skiers (23 males and 11 females who participated in the Turkish skiing national team camp). Genotyping for the PPAR-a gene rs4253778 G/C polymorphism was performed by PCR on Tercyk multicanal amplificator and restriction enzyme digestion. Statistical analysis was done by using the SPSS 22.0 package program. Genotypic frequency of the PPAR-a polymorphism was detected in cross-country skiers. PPAR-a GG, GC and CC genotypes were detected as 67.64%, 23.52% and 8.82%, respectively in 34 cross-country skiers while PPAR-a GG, GC and CC genotypes were detected as 47.05%, 16.64%, and 2.94%, respectively in elite males. PPAR-a GG, GC and CC genotypes were detected as 20.58 %, 5.88%, and 5.88%, respectively in females. PPAR-a G and C allele were detected as 49 and 19, respectively in 34 elite endurance athletes. In the present study, the GG genotypes were detected at higher frequencies in elite athletes (67.64% respectively) than GC and CC (23.52% and 8.82%, respectively). The difference between the PPAR-a G/C gene polymorphism of Turkish elite cross-country skiers and serum total cholesterol, HDL- cholesterol, LDL- cholesterol and TG levels was not statistically significant. Although there was not any statistically significant difference between the PPAR-a G/C gene polymorphism and lipid profiles of Turkish elite cross-country skiers, it is foreseen that PPAR-α genes have an important effect on endurance performance in sports requiring endurance such as cross-country skiing.

Objective: Understanding the genetic nature of injuries in athletes may be conceived as an important step in the prevention and rehabilitation process of the injuries. The aim of this study is to analyze the rs1800012 genotype and allele distribution of the collagen type I alpha 1 gene (COL1A1), which is effective in non-contact injuries of long distance and short distance runners. Material and Methods: A total of 94 participants, including 19 long distance runners, 25 short distance runners and 50 sedentary individuals were enrolled in the study. Genomic DNA was isolated from oral epithelial cells using the Invitrogen DNA isolation kit (Invitrogen, USA) according to the manufacturers’ protocol. Genotyping was performed with real-time PCR. Results: There were no statistically significant differences between long distance-short distance (p=0.870), short distance-sedentary individuals (p=0.510) and long distance-sedentary individuals (p=0.201) group variables in terms of genotype. Similarly, when the same groups were compared in terms of allelic distribution (respective p values 0.680, 0.337 and 0.201), there were no statistically significant differences. Conclusion: In the study, it was found that GG genotype and G allele were higher for rs1800012 polymorphism than the other genotypes. Therefore, both athletes and sedentary individuals are considered to be less at risk of non-impact injury predisposition.

İnsan psikolojisini etkileyen ve en önemli bir biyobelirteç olan serotonin, sporcunun atletik performansını da olumsuz yönde etkileyebilmektedir. Çalışmamızın amacı, sağlıklı profesyonel futbolcularda anksiyete ile bağlantılı SLC6A4 geni promotör bölgesinde “S” ve “L” allel dağılımının incelenmesidir. Çalışmamıza aktif olarak haftada en az 4 gün antrenman programı uygulayan 15-29 yaş arası 19 profesyonel futbolcu ve herhangi bir egzersiz programı uygulamayan (kontrol grubu) 45 birey katıldı. Gerekli etik kurul izinleri alındıktan sonra çalışma protokolunun sonuç ve çıktılarını anlatan onam formları katılımcılara imzalatıldı. Çalışmamıza katılan bireylerden daha sonra ağız içi epitel hücreleri alınarak DNA izolasyonu gerçekleştirildi. Tüm polimorfizmlerin genotiplemesi, polimeraz zincir reaksiyonu (PZR) metodu kullanılarak belirlendi. Çalışmamıza katılan futbolcularda SLC6A4 geninin LL, LS, SS genotiplerinin sayı ve yüzdeleri sırasıyla 11(%57,8), 4(%21,1), 4(%21,1) olarak belirlenmiştir. Çalışma kohortumuzda L alleli 26 (%68,4), S alleli ise 12 (%31,6) oranında gözlemlenmiştir. Çalışma grubumuzda SLC6A4 geninin promotör bölgesi incelendiğinde, LL genotipi baskın olarak bulunurken, L alleli de S alleline göre daha yüksek oranda bulunmuştur. Kontrol grubunda ise aynı genotip sayı ve yüzdeleri sırası ile 12 (%26,7), 24 (%53,3) ve 9 (%20) olarak belirlenmiştir. Kontrol grubundaki allelik dağılımı ise L alleli 48(%53,3), S alleli 42 (%46,7) olarak gözlenmiştir. Sporcu grubu ile kontrol grubu arasında genotip dağılımlarında (p=0,0001) bulunurken, allelik dağılımlarında (p=0,0425) bulunarak her iki grup arasında da istatiksel açıdan anlamlı farklılık saptanmıştır. Sonuç olarak çalışmamızda SLC6A4 promotör polimorfizmlerinin belirlenmesinin, sporcularda oluşan anksiyete ve bilişsel kaygı düzeyinin erken dönemde önlenmesine yardımcı olabileceği sonucuna varılmıştır., Serotonin, which is the most important biomarker affecting human psychology, can also negatively affect the athletic performance of the athlete. The aim of our study was to examine the distribution of “S” and “L” alleles in the promoter region of the SLC6A4 gene associated with anxiety in healthy professional football players. 19 professional football players between the ages of 15-29 who actively used a training program for at least 4 days a week and 45 individuals who did not use any exercise program (control group) participated in our study. After obtaining the necessary ethics committee permissions, consent forms describing the results and outcomes of the study protocol were signed by the participants. Afterwards, intraoral epithelial cells were taken from individuals who participated in our study, and DNA isolation was performed. Genotyping of all polymorphisms was determined using the polymerase chain reaction (PCR) method. The numbers and percentages of the LL, LS, SS genotypes of the SLC6A4 gene in the football players participating in our study were determined as 11 (57.8%), 4 (21.1%), and 4 (21.1%), respectively. In our study cohort, 26 (68.4%) L allele and 12 (31.6%) S allele were observed. When the promoter region of the SLC6A4 gene was examined in our study cohort, LL genotype was found to be dominant, while the L allele was found to be higher than the S allele. In the control group, the same genotype number and percentages were determined as 12 (26.7%), 24 (53.3%) and 9 (20%), respectively. In the control group, the allelic distribution was observed as 48 (53.3%) for the L allele and 42 (46.7%) for the S allele. While genotype distributions (p=0.0001) were found between the athlete group and the control group, statistically significant difference was found between both groups by their allelic distribution (p=0.0425). As a result, it was concluded in our study that the determination of SLC6A4 promoter polymorphisms may help prevent anxiety and cognitive anxiety in athletes in the early period.

Çalışmamızda Buz Hokeyi Milli Takım oyucularında ACE rs1799752, ACTN3 rs1815739, PPARA rs4253778 ve HIF1A rs11549465 polimorfizmleri ile fiziksel testlerin değerlendirilmesi amaçladık. Araştırmamıza 21 buz hokeyi milli takım oyuncusu katılmıştır. Etik kurul ve gönüllü onam formları alındıktan sonra ağız içi epitel dokularından DNA izolasyonu gerçekleştirilmiştir. ACE rs1799752 polimorfizmi için konvansiyonel polimeraz zincir reaksiyon yöntemi, ACTN3 rs1815739, PPARA rs4253778 ve HIF1A rs11549465 polimorfizmleri için gerçek zamanlı polimeraz zincir reaksiyonu yöntemi kullanılmıştır. Atletik performans analizi, maksimal oksijen kullanım kapasitesi, anaerobik performans, esneklik ve kuvvet testleriyle değerlendirilmiştir. Kohortumuzuda ACE rs1799752 polimorfizmi bakımından 5(%24) sporcu II genotipinde, 7(%33) sporcu ID ve 9(%43) sporcu ise DD genotipinde belirlenmiştir. ACTN3 rs1815739 için CC, CT ve TT genotipleri sırasıyla 5(%24), 9(%43) ve 7(%33) olarak saptanmıştır. PPARA rs4253778 polimorfizmi bakımından 15(%71) sporcu GG genotipi, 3(%14,5) sporcu GC ve 3(%14,5) sporcu ise CC genotipinde gözlemlenmiştir. HIF1A rs11549465 CC genotipi 14(%67) sporcu ve CT genotipi 7(%33) sporcu olarak bulunmuştur. Fiziksel testlerde esneklik testi (p=0,365), bacak kuvveti testi (p=0,691), el sıkma kuvveti testi (p=0,679), VO2max testi (p=0,686) sonuçları genotiplerle değerlendirildiğinde istatistiksel olarak anlamlı farklılık saptanmamıştır. Sürat testi ile HIF1A rs11549465 polimorfizm değerlendirmesinde anlamlı düzeyde ilişki bulunmuştur (p=0,008). Diğer polimorfizmlerle sürat testi karşılaştırılmasında anlamlı sonuç tespit edilmemiştir (p=0,65). Çalışmamızın sonuçları ilgili gen polimorfizmleri ile buz hokeyi oyuncularının atletik performansı arasındaki potansiyel ilişkiyi vurgulayan önceki çalışmalarla uyumludur. Fakat ilgili polimorfizmlerle buz hokeyi oyuncularının atletik performans ilişkisi arasında ilişkiyi anlamak için büyük kohortlarla çalışmalar tavsiye edilmektedir. We aimed to compare ACE rs1799752, ACTN3 rs1815739, PPARA rs4253778 and HIF1A rs11549465 polymorphisms and physical tests in Ice Hockey National Team players. While ACE rs1799752 was performed by conventional polymerase chain reaction method, real-time polymerase chain reaction method was used for other polymorphisms. Athletic performance analysis were evaluated maximal oxygen utilization capacity, anaerobic performance, flexibility and strength tests. In our cohort, the ACE rs1799752, the II genotype was determined as 5(24%), ID genotype as 7(33%), and DD genotype 25(43%). The ACTN3 rs1815739 was found as 5(24%) in RR genotype, as 9(43%) in RX genotype, and 7(33%) in XX genotype. The PPARA rs4253778 was observed as GG genotype 15(71%), as GC genotype 3(14.5%) and as CC genotype 3(14.5%). The HIF1A rs11549465 was determined as 14(67%) CC genotype and as 7(33%) for CT genotype. In physical tests, when the flexibility test (p=0.365), leg strength test ( p=0.691), the grip strength test (p=0.679) and VO2max test (p=0.686) results were evaluated between the genotype groups, no significant difference was found. Evaluation of HF1A rs11549465 polymorphism with sprint test was evaluated as significant (p=0.008), no significant results were found in comparison of sprint test with other polymorphisms (p=0.65).The results of our study are in line with previous studies. In order to confirm our study, it is recommended that larger prospective studies depending on the effect of the relevant polymorphisms need to be carried out.

Amaç: Sporcularda yaralanmaların genetik mimarisini anlamak, pek çok yaralanmanın önlenmesine veya rehabilitasyon sürecine önemli katkılar sağlayabilir. Bu çalışmanın amacı, uzun mesafe ve kısa mesafe koşucularının darbeye bağlı olmayan yaralanmalarda etkili olan kollajen tip 1 alfa 1 geninin (COL1A1) rs1800012 genotip ve allel dağılımını analiz etmektir.Gereç ve Yöntemler: Çalışmaya 19 uzun mesafe koşucusu, 25 kısa mesafe koşucusu ve 50 sedanter birey olmak üzere toplam 94 katılımcı dâhil edildi. Genomik DNA, kullanıcı protokolüne göre Invitrogen DNA izolasyon kiti (Invitrogen, ABD) kullanılarak oral epitel hücrelerden izole edildi. Genotipleme işlemi gerçek zamanlı PZR metodu ile gerçekleştirildi.Bulgular: Gruplar arası karşılaştırmalarda uzun mesafe-kısa mesafe (p=0.870), kısa mesafe-sedanter (p=0.510) ve uzun mesafe-sedanter (p=0.201) gruplarında genotip bakımından istatistiksel olarak anlamlı herhangi bir farklılık saptanmadı. Gruplar arası allelik dağılım açısından yapılan değerlendirmede de (p değerleri aynı sırayla 0.680, 0.337 ve 0.201) benzer şekilde istatistiksel olarak anlamlı bir farklılık gözlenmedi (p

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

Objective: Interleukin-6 (IL-6) is an effective and functional protein with a cytokine structure. IL-6 produces a pro/anti-inflammatory response in the immune system and muscle tissue hypertrophy and repair. We aimed to investigate the IL-6 rs1800795 polymorphism in athletes who were members of the Turkish national cross-country skiing team in order to determine the advantageous genotype for endurance performance. Methods: A total of 34 athletes within three groups-general (group-1), female (group-2), and male (group-3)-were enrolled in the study. Each group was also divided into two sub-groups as faster and slower referring to their 1-kilometer cross-country skiing time averages (1km CCSTAs). Blood samples were used for DNA isolation, and genotyping was completed by real-time PCR. Chi-square Fisher's and descriptive tests were used for statistical analysis. Results: The groups' 1km CCSTAs were 188.7 +/- 22.4, 212.3 +/- 17.8, and 177.4 +/- 14.1 seconds, respectively. We detected the genotypes as follows: 17 GG (50%) and 17 GC (50%) in Group 1, 5 GG (45%) and 6 GC (55%) in Group 2, and 12 GG (52%) and 11 GC (48%) in Group 3. We detected no CC genotype in the groups. Conclusion: Although the GC genotype ratio was higher in the faster athletes of each group compared to the slower sub-groups, we detected a statistically significant difference only in Group 3 (p

Amaç: Spor yaralanmaları ile ilgili elde edilen bulgular akut ve kronik kas-iskelet sistemi yumuşak doku yaralanmalarının etiyolojisinde genetik faktörlerle ilişkili önemli bir rol oynadığı görülmektedir. Bu çalışmanın amacı, sporcuların branşlarına göre darbeye bağlı olmayan yaralanmalarda etkili olan Kollajen tip V alfa 1 geninin (COL5A1) rs12722 genotip ve allel dağılımını analiz etmektir. Methods: Yapılan çalışmaya 45 yüzücü, 40 futbolcu, 22 buz hokeyci ve 8 ironman sporcusu olmak üzere toplam 115 katılımcı dahil edildi. Sporcular ulusal ve uluslararası yarışmalara katılan elit seviyedeki yarışmacılardır. Genomik DNA, kullanıcı protokolüne göre Invitrogen DNA İzolasyon Kiti (Invitrogen, ABD) kullanılarak oral epitel hücrelerden izole edildi. Genotipleme işlemi gerçek zamanlı PZR metodu ile gerçekleştirildi. Sporcuların gruplar arası hem genotip hem de allel sıklıklarının karşılaştırılması Chi square/Fisher’s exact test analiz yöntemi kullanılmıştır. Bulgular: Gruplar arası genotip ve allel bakımından karşılaştırıldıklarında istatistiksel olarak anlamlı bir farklılık tespit edilmemiştir (sırasıyla p=0213, p=0.499). Çalışmada tüm branşlarda daha fazla CT genotip ve C allel taşıyıcıları olduğu saptanmıştır. Ek olarak, ironman sporcularda TT genotip taşıyıcısı olmadığı tespit edilmiştir. Sonuç: Tüm gruplarda rs12722 polimorfizmi için CT genotip ve C allelinin diğer genotiplere göre daha yüksek değerlere sahip olduğu tespit edilmiştir, ancak bu yükseklik istatistiksel açıdan herhangi bir anlamlı bir fark yaratmamıştır. Literatür bilgileri de dikkate alındığında bu bağlamda hem sporcular da hem de sedanter bireylerde darbeye bağlı olmayan yaralanma yatkınlığı daha az riskli olduğu düşünülmektedir.

İnsan genom projesinden sonra toplam sayısının 20-25 bin olduğu düşünülen genlerimizden yaklaşıkolarak 250’si atletik performans ile ilişkili olduğu tahmin edilmektedir. Bu gen bölgelerinden dayanıklılıkperformansına etki edenlerden biri de peroksizom – proliferatör aktive reseptör alfa (PPARA) rs4253778polimorfizmidir. Çalışmamızda genç futbolcularda PPARA rs4253778 polimorfizminin dağılımlarınıbelirlemeyi amaçladık. Çalışmamıza 64 genç Türk futbolcu katılmıştır. Futbolculardan DNA örnekleri, ağıziçi epitel hücrelerden ticari DNA izolasyon kiti kullanılarak elde edilmiştir. Genotiplendirme işlemi, gerçekzamanlı polimeraz zincir reaksiyonu (PZR) tekniği ile gerçekleştirilmiştir. Çalışmaya katılan futbolculardan42’si GG, 21’i GC ve bir futbolcuda CC genotipinde olduğu saptanmıtır. G alleli 105, C alleli ise 23 olarakbelirlenmiştir. Kohortumuzda, patlayıcı güç fenotipi ile ilişkili olan PPARA GG genotipi ve G allelinindaha baskın olduğu görülmüştür. Futbolcular üzerinde gerçekleştirilen bu pilot çalışmanın bundan sonrayapılacak olan daha yüksek verili çalışmalara ışık tutacağı inancındayız., Approximately 250 regions of our genes, estimated to the total of 20-25 thousand genes, as a rusult ofHuman Genome Project, have been associated with athletic performance. One of these gene regionsthat affects endurance performance is the peroxisome – activated receptor alpha (PPARA) rs4253778polymorphism. We aimed to determine the distribution of PPAR polymorphism in young football players.64 young Turkish football olayers were enrolled to the study. NA isolations were obtained from buccal cellsby using commercial DNA isolation kit. Genotyping is carried out by real-time PCR technique. As a result,42 of the players were found as GG, 21 players as GC and 1 player as CC genotypes. G allele was counted as105 and C allele as 23. In our cohort, PPARA GG genotype and G allele, which are associated with powerphenotype, were found to be more dominant. We believe that this pilot study among footballers will guidefor further studies with an extended number of subjects.

Athletic performance is considered to be determined by the effect of genetic endowment and environmental factors like nutrition, regular training and psychology. Aim of the present study is to determine the effect of Interleukin-6 (1L-6) rs1800795 polymorphisms in Turkish National Skiing running athletes. A total of 55 individuals. 34 skiers and 21 nonskiers (controls) were enrolled for the study. DNA isolation from buccal samples of athletes was performed by using Invitrogen (Van Allen Way, Carlsbad, CA, USA) commercial kit. Genotyping process was carried out by real-time PCR. GG and GC genotypes were analyzed as equal in athletes. In controls, GG genotype was superior to other genotypes. There was no statistically significant difference in the terms of IL-6 rs1800795 polymorphism between athletes and controls. CC genotype was not detected in both groups. Our results revealed the importance of genetic factors in determining the athlete's sports performance, but there is need for more studies in the terms of IL-6 rs1800795 to clarify their effects on athletic performance. This first report, including the related genetic markers and skiing running athletes will guide scientists for further studies.

In addition to its importance for human metabolism, apolipoprotein molcules are one of the most importantbiological biomarkers in certain diseases. Apolipoprotein E (ApoE) is one of the most widely studiedmolecules in this field. When we examined the literature, we found a relationship between serum ApoElevels and sports and exercise, but there was limited study of the APOE gene that encodes this protein.In this study, we aimed to determine the distribution of ε2 / ε3 / ε4 variants in the APOE gene in Turkishsoccer players, which is thought to have an effect on athletic and neurocognitive performances. Twentytwoprofessional Turkish footballers between 18-24 years of age, still playing active football participatedin the study. After obtaining the necessary ethics committee permissions, consent forms explaining thestudy protocol, results and outputs were signed and DNA isolation was performed from the athletes. APOEgenotyping was performed by real-time polymerase chain reaction (Real-time PCR) method to determinegenotype distributions in athletes. In determining these distributions, haplo groups formed by APOErs429358 and rs7412 polymorphisms were evaluated. In our cohort, the APOE ε3/ ε3 genotype was foundto be more dominant than the other genotypes. One player had ε2/ ε3 (4.5%), one had ε2/ ε4 (4.5%),13 had ε3/ ε3 (59%) and 7 had ε3/ ε4 (32%) genotypes. No ε2/ ε2 and ε4/ ε4 genotypes were found infootball players. The most common allele ε3 and ε3/ ε3 genotype was more dominant than other alleles andgenotypes. In our study group, we detected no ε2/ ε2 and ε4/ ε4 genotypes. According to the results, thepredominance of ε3/ ε3 genotype in footballers may be related to football biology., Apolipoprotein molekülleri, metabolizmamız için öneminin yanı sıra bazı hastalıklar içinde önemlibiyolojik biyo-belirteçlerdendir. Özellikle Apolipoprotein E (ApoE) bu konuda en fazla çalışılanmoleküllerin başında gelmektedir. Literatür incelemesi yaptığımızda serum ApoE seviyeleri ile sporve egzersiz arasında ilişki kurulmuş, ancak bu proteini kodlayan APOE geni ile ilgili kısıtlı çalışmaolduğu gözlenmiştir. Çalışmamızda, sporcuların nörobilişsel ve atletik performans üzerine etkisi olduğudüşünülen ve ApoE genindeki ε2/ε3/ε4 varyantlarının Türk futbolcularda dağılımlarını belirlemeyiamaçladık. Çalışmamıza aktif futbol oynayan 18-24 yaş arası 22 profesyonel Türk kökenli futbolcu katıldı.Gerekli etik kurul izinleri alındıktan sonra çalışma protokolunu, sonuç ve çıktılarını anlatan onam formlarıimzalatıldıktan sonra sporculardan DNA izolasyonu gerçekleştirildi. ApoE genotiplemesi gerçek zamanlıpolimeraz zincir reaksiyonu (GZ-PZR) metodu ile gerçekleştirilerek sporculardaki genotip dağılımlarıbelirlendi. Bu dağılımların belirlenmesinde APOE rs429358 ve rs7412 polimorfizmlerin oluşturduğu haplogruplar değerlendirilmiştir. Kohortumuzda APOE ε3/ε3 genotipi diğer genotiplere göre daha baskın olarak bulunmuştur. 1 sporcuda ε2/ε3 (%4.5), 1 sporcuda ε2/ε4 (%4.5), 13 sporcuda ε3/ε3 (%59) ve 7 sporcununε3/ε4 (%32) genotipinde olduğu saptanmıştır. Futbolcularda ε2/ε2 ve ε4/ε4 genotiplerine rastlanmamıştır.Kohortumuzda en yaygın allel olan ε3 ve ε3/ε3 genotipi diğer allel ve genotiplere göre daha baskın olduğugörülmüştür. Çalışma grubumuzda ε2/ε2 ve ε4/ε4 genotiplerine hiç rastlanmamıştır. Çalışma grubumuzdanelde edilen sonuçlara göre ε3/ε3 genotipinin futbolcularda daha baskın olmasının futbol biyolojisi ile ilişkiliolabileceği sonucuna varmamızı sağlamıştır.

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

Aim and Objective: Escitalopram (SCT) shows an antidepressant effect due to its mechanism of increasing the serotonin level by inhibiting the serotonin transporter protein (5HTT). 5HTT is encoded by solute carrier family 6 member 4 gene (SLC6A4) in the brain. Recognition of SCT plasma level of patients and pharmacodynamics of individuals during SCT treatment will increase the expected response to the treatment and reduce the adverse effects. This study aims to determine the effect of SLC6A4 promoter long/short polymorphism and the SCT plasma level of patients on the response to treatment during the SCT drug therapy. Materials and Methods: Blood and plasma samples of 30 major depressive patients using 20 mg SCT for 8 weeks between the ages of 18 and 65 were analyzed to determine SCT plasma level and SLC6A4 promoter polymorphism. The treatment response level was determined by using the Hamilton Depression Rating Scale at patient files. Results: SCT plasma level of the nine patients with LL polymorphism was found to be in the range of 13.40–63.36 ng/mL. For 13 patients with LS polymorphism, SCT plasma level was found to be in the range of 2.93–57.48 ng/mL. For eight patients with SS polymorphism, the SCT plasma level was found to be in the range of 0.95–49.32 ng/mL. Conclusion: When the association between SCT plasma level and response to the drug treatment was examined, we had significant results to show that SCT level affected the response to treatment, especially in the LS group, as well as the SLC6A4 promoter variation. This study may lead to a more profound understanding of rational drug therapy as well as to a careful application of pharmacogenetics in psychiatry..

Amaç: D vitamini kasların gelişmesinde, kasılmasında ve rejenerasyonunda görev alan önemli bir moleküldür. Çalışmamızda profesyonel Türk atletlerde D vitamin reseptör (VDR) Fok1 (rs 2228570) ve Bsm1 (rs1544410) polimorfizmlerinin dağılımını araştırmayı amaçladık. Yöntem: Çalışmamıza 13 kadın ve 14 erkek atlet olmak üzere 27 sporcu katılmıştır. DNA izolasyonları sonrasında D vitamini reseptörü polimorfizmleri gerçek zamanlı PZR (RT-PCR) metodu ile saptanmıştır. Bulgular: Fok1 polimorfizmi açısından atletlerin 12’si CC, 5’i CT ve 10’u ise TT genotipindedir. Kadın atletlerin 6’sı CC, 2’si CT ve 5’i ise TT genotipinde bulunmuştur. Erkek atletlerde 6 sporcu CC, 3 sporcu CT ve 5 sporcu ise TT genotipindedir. Bsm1 polimorfizmi için 9 atlet AA, 14'ü AG, 4’ü ise GG genotipindedir. Kadın atletlerin 3’ü AA, 8’i AG ve 2’si GG genotipindedir. Erkek atletlerin 6’sı AA, 6’sı AG ve 2’si GG genotipinde saptanmıştır. Sonuç: Çalışma grubumuzda Fok1 polimorfizmi için CC genotipi ve C allelinin, Bsm1 içinde AG genotipinin ve A allelinin baskın olduğu gözlenmiştir. Bu çalışmanın VDR geninin atletik performansa etkisinin araştırılması için yapılacak yeni çalışmalar için referans olacağını düşünmekteyiz., Aim: Vitamin D is an important molecule responsible for the development, contraction and regeneration of muscles. In this study, we aimed to research the distribution of vitamin D receptor (VDR) Fok1 (rs 2228570) and Bsm1 (rs1544410) polymorphisms in professional Turkish athletes. Method: A total 27 athletes including 13 female and 14 male athletes participated in the study. Following DNA isolation, polymorphisms of VDR were determined by real-time PCR (RT-PCR). Findings: 12 of the athletes have CC, 5 of them have CT and 10 of them have TT genotypes in terms of Fok1 polymorphism. 6 female athletes were determined as CC, 2 of them as CT and 5 of them as TT genotype. 6 male athletes were found as CC, 3 of them as CT and 5 of them as TT genotype. For Bsm1 polymorphism, 9 athletes have AA, 14 of athletes have AG and 4 of them have GG genotypes. 3 of the female athletes have AA, 8 of them have AG and 2 of them have GG genotypes. 6 of male athletes have AA, 6 of them have AG and 2 of them have GG genotypes. Conclusion: In our study, it was observed that CC genotype and C allele for Fok1 polymorphism were dominant of AG genotype and A allele in Bsm 1. We believe that this study will be a reference for new studies to research the effect of VDR gene on athletic performance

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.

Studies conducted on sports genomics indicated the importance of genetic factors in determining the comprise, sustainability and development of athletic performance. Having information of these genetic factors gives us great information about not only the predisposition to a certain sports kind, and also for guiding to the fittest sports types. Not only the genomic DNA, but also mitochondrial DNA mtDNA have effects on athletic performance. In this review, we aimed to summarize the mtDNA variations and mtDNA haplogroups related with these variations. To date, mtDNA polymorphisms and mtDNA haplogroups were determined in different populations and with athletes in different sport types, and information gained by these studies gave rise to the effect of mtDNA on exercise physiology. However, studies which have included Turkish subjects have not been considered adequate. Therefore, we believe this review will guide further studies related to this subject

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.

Aneroxia Nervosa (AN) and Blumia Nervosa (BN) are eating disorders with complex structures. These disorders, which have strong evidence of genetic linkage, are often accompanied by anxiety disorder, mood disorder, obsessive compulsive disorder and perfectionism. Recent studies are investigating the biological origins of these disorders rather than the familial inheritance. Eating disorders and anxiety disorders have several characteristics in common. In family and twin studies indicates that 5-Hydroxytryptamine (5-HT2A) Receptor 2A have an important role in AN and BN pathogenesis. Future studies in this field will indicate the importance of the serotonergic system and its biological markers in the treatment of these nutritional disorders. Predisposition and farmacogenetic studies with larger sample groups will produce the importance of gen in nutritional disorders with more reliable arguments and will provide important information to physicians in terms of treatment approach.

With the human genome project, in addition to determining the number, structure and physical maps of our genes which were previously supposed to be between 20-25 thousands, genetic regions affecting athletic performance have also been identified.It has been determined that endurance, athletic ability and musculoskeletal as well as central nervous system (CNS) are effective in succeeding in todayÂ’s sporting events and play an important role in performance. Parameters affecting psychological performance such as stress, anxiety, aggression are effective in determining sportive achievements. Determining the genetic predisposition of the athletes in stressful environments or in sports where stress is prominent allows them to be guided by psychologists at an early age and contributes to sporting success. Related to the behavioral characteristics of the athletes, genes leading to resistance to stress, personality traits and aggressive behaviours like 5-HTT, DRD4, DRD5, ADRD1, COMT, BDNF, NRG1, GLUT4 and SLC2A4 and polymorphisms within these genes have been investigated in our review.

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.

Vitamin D is an important molecule which regulates many reactions in different tissues and organs, and also can be named as hormone. It can be synthesized either endogenously under UV light or exogenously by diet. Vitamin D is converted to its active form after being metabolised by liver and kidney, respectively. Blood 25-hydroxy vitamin D is the main metabolite that determines the individuals vitamin D levels. Vitamin D deficiency may lead to many diseases like diabetes, various cancer types and cardiovascular problems. They affect the target organs by triggering their vitamin D receptors. Many studies were carried out regarding the polymorphisms on the receptor gene, and outlined the function of the gene. Studies on athletes in different sport types showed the importance of this vitamin for athletic performance. Studies including the vitamin D blood levels and polymorphisms on the encoding gene associated the athletic performance and vitamin D, and low vitamin D blood levels and sports injuries were came into prominence. Fok1, Bsm1, Taq1 and Apa1 are the main examined polymorphisms within the gene. In this review, we aimed to give brief information about vitamin D, and state the importance of vitamin D metabolism and its receptor in the terms of sportsmen health. Therefore, we hope that this review will help scientists to have a general information about vitamin D and athlete health and performance; also will guide for further studies., D vitamini doku ve organlarda birçok metabolizmayı düzenleyen, hor¬mon olarak da adlandırılabilen önemli bir moleküldür. Endojen olarak sentezlenebildiği gibi eksojen olarak da dışarıdan diyetle alınabilir. Sırası ile karaciğer ve böbrekte metabolize edilerek aktif formuna çevrilir. Kan 25- hidroksivitamin D düzeyi bireylerin D vitamini hakkında bilgi vermektedir. Eksikliği diyabet, bazı kanser türleri ve kardiyovasküler sistem bozuklukları olarak karşımıza çıkabilmektedir. D vitamini etkisini D vitamini reseptörleri üzerinden gösterir. Reseptörü kodlayan gen üze¬rinde bulunan polimorfizmler ile ilgili birçok çalışma gerçekleştirilmiş ve polimorfizmlerin karakterizasyonu yapılmıştır. Farklı spor türlerindeki sporcular üzerinde yapılan çalışmalar ile atletik performans için önemi ortaya konmuştur. Bu çalışmalar D vitamininin kan düzeyleri veya resep¬tör üzerindeki polimorfizmler ile gerçekleştirilmiş ve atletik performans ile ilişkilendirilmiştir. Özellikle vitaminin kan düzeyleri düşük olan spor¬culardaki performans ve sporcu sakatlıkları ön plana çıkan çalışmalardır. Reseptör geni ile ilgili ise Fok1, Bsm1, Taq1 ve Apa1 polimorfizmleri ön plana çıkmıştır. Bu derlemede D vitamini metabolizması hakkında genel bilgi verilip, sporcu sağlığı için D vitamini metabolizmasının ve resep¬törünün önemi vurgulamıştır. Böylece sporcular ile yapılabilecek yeni çalışmalara zemin hazırlanması amaçlanmıştır.

Background. The determination of the genetic endowment of athletic performance in sports is an important step in developing personal training sessions or nutritional supplements for success in sports. Information about the genetic parameters responsible for these metabolisms will help sport’s scientist to develop new insights for better performance. Muscle metabolism is one of the key points in better personal athletic performance. Objectives. The aim of this study is to analyze the distribution of the methylenetetrahydrofolate reductase enzyme (MTHFR) rs1801133 (C677T) genotype and allele distribution in a Turkish professional cyclist cohort. Methods. There were 25 Turkish cyclists enrolled in the study. Peripheral blood used for DNA isolation and the conventional polymerase chain reaction- restriction fragment length polymorphism (PCR- RFLP) methodology were used for genotyping. Results. There were 14 (56%), 10 (40%) and 1 (4%) cyclist who had CC, CT, and TT genotypes, respectively. C allele was counted as 38 (76%), and T alleles as 12 (24%). 9 (50%) of the male cyclist had CC, 8 (44.4%) had CT and only 1 had TT (5.6%) genotypes. C allele was counted as 26 (72.2%), and the T allele as 10 (27.8%) in the male cyclists. In the females, the respective genotypes for CC and CT were 5 (71.4%) and 2 (28.6%). C allele was counted as 12 (85.7%) and T allele as 2 (14.3%). Conclusion. In our cohort, both of the two genders, the CC genotype and C allele were found to be higher when compared to the other genotypes and T allele. Larger prospective studies focusing on the influence of MTHFR rs1801133 polymorphism in athletic performance are required for confirmation of our findings.

The purpose of this study was to examine the effects of PPAR-a (rs4253778) on serum lipids in elite crosscountry skiers. This study included 34 cross-country skiers (23 males and 11 females who participated in the Turkish skiing national team camp). Genotyping for the PPAR-a gene rs4253778 G/C polymorphism was performed by PCR on Tercyk multicanal amplificator and restriction enzyme digestion. Statistical analysis was done by using the SPSS 22.0 package program. Genotypic frequency of the PPAR-a polymorphism was detected in cross-country skiers. PPAR-a GG, GC and CC genotypes were detected as 67.64%, 23.52% and 8.82%, respectively in 34 cross-country skiers while PPAR-a GG, GC and CC genotypes were detected as 47.05%, 16.64%, and 2.94%, respectively in elite males. PPAR-a GG, GC and CC genotypes were detected as 20.58 %, 5.88%, and 5.88%, respectively in females. PPAR-a G and C allele were detected as 49 and 19, respectively in 34 elite endurance athletes. In the present study, the GG genotypes were detected at higher frequencies in elite athletes (67.64% respectively) than GC and CC (23.52% and 8.82%, respectively). The difference between the PPAR-a G/C gene polymorphism of Turkish elite cross-country skiers and serum total cholesterol, HDLcholesterol, LDL- cholesterol and TG levels was not statistically significant. Although there was not any statistically significant difference between the PPAR-a G/C gene polymorphism and lipid profiles of Turkish elite cross-country skiers, it is foreseen that PPAR-α genes have an important effect on endurance performance in sports requiring endurance such as cross-country skiing. Bu çalışmanın amacı, elit kayaklı koşucularda PPAR-a (rs4253778) serum lipidleri üzerindeki etkilerini _x000D_ incelemektir. Bu çalışmaya 34 kayaklı koşu sporcusu (Türkiye kayak milli takım kampına katılan 23 erkek ve 11 _x000D_ kadın) dahil edildi. PPAR-a geni rs4253778 G/C polimorfizmi için genotipleme, Tercyk multicanal amplifikatör _x000D_ ve restriksiyon enzim sindirimi üzerinde PCR ile gerçekleştirildi. İstatistiksel analiz SPSS 22.0 paket programı _x000D_ kullanılarak yapıldı. Kayaklı koşucularda PPAR-a polimorfizminin genotipik frekansı tespit edildi. 34 kayaklı _x000D_ koşucuda PPAR-a GG, GC ve CC genotipleri sırasıyla %67,64, %23,52 ve %8,82 tespit edildi. PPAR-a GG, GC _x000D_ ve CC genotipleri erkeklerde sırasıyla %47,05, %16,64 ve %2,94 olarak tespit edilirken kadınlarda PPAR-a GG, _x000D_ GC ve CC genotipleri sırasıyla %20,58, %5,88 ve %5,88 olarak tespit edildi. PPAR-a G ve C alleli 34 elit _x000D_ dayanıklılık sporcusunda sırasıyla 49 ve 19 olarak tespit edildi. Bu çalışmada, GG genotipleri elit sporcularda _x000D_ (sırasıyla %67,64) GC ve CC'den (sırasıyla %23,52 ve %8,82) daha yüksek frekanslarda olduğu tespit edildi._x000D_ Türk elit kros kayakçılarının PPAR-a G/C gen polimorfizmi ile serum toplam kolesterol, HDL-kolesterol, LDL?kolesterol ve TG seviyeleri arasındaki istatistiksel olarak anlamlı bir fark tespit edilmedi. Türk elit kayaklı _x000D_ koşucuların PPAR-a G/C gen polimorfizmi ile lipid profilleri arasında istatistiksel olarak anlamlı bir fark _x000D_ olmamasına rağmen, PPAR-α geninin dayanıklılık gerektiren sporlarda dayanıklılık performansı üzerinde önemli _x000D_ bir etkiye sahip olduğu öngörülmektedir.

Studies in sports genetics have increased nowadays and the identification of genotype and allelic distributions of candidategenes in different athletes has provided important information to sports scientists. One of the candidate genes studied in sportsgenetics 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-countryathletes. 34 (23 male, 11 female) athletes were included in the study, and 1 cc of blood samples taken for routine analysis afterthe approval of the ethics committee was used for DNA isolation. The commercial kit was used for DNA isolation andgenotyping was performed by Real-time PCR method. The number and percentage of CC, CT and TT genotypes of the HIF1Ars11549465 polymorphism were 24 (72.72%), 8 (24.24%) and 1 (3.03), respectively. In male skiers CC, CT and TT genotypenumbers and percentages were determined as 17 (55.51%), 4 (12.12%) and 1 (3.03%) respectively. In female, CC and TTgenotypes were determined as 7 (21.21%) and 4 (12.12%). We detected no TT genotype in female athletes. When we look at allelnumbers, C allele was determined as 56 (84.84%) and T allele was determined as 10 (15.15%). This is the first study on HIF1Ars11549465 polymorphism on Turkish elite ski cross-country athletes. The higher prevalence of CC genotype and C allele in theathlete group is similar to the previous studies on different groups of athletes. We believe that this study will be an importantreference for further studies.