belirlenmiştir. İki grup arasında allelik dağılımı açısından istatistiksel olarak anlamlı fark yoktu (p=0,5700). ACE polimorfizmi incelendiğinde ise DD, ID, II genotipleri sporcularda sırasıyla %19, %38,1, %42,9; kontrol grubunda ise %33,3, %38,1, %28,6 bulunmuştur. İki grup arasında genotip dağılımı açısından istatistiksel olarak anlamlı fark yoktu (p=0,3154). Allelik dağılımları incelendiğinde sporcularda %38,1 D alleli, %61,9 I alleli; kontrol grubunda ise %52,4 D, %47,6 I alleli belirlenmiştir. İki grup arasında allelik dağılımı açısından istatistiksel olarak anlamlı fark yoktu (p=0,0910). Çalışma kohortumuzda, dayanıklılık fenotipi ile ilişkili olan ACTN3 T allelinin, kas dayanıklılığı ile ilişkili olan ACE I allelinin daha baskın olduğu saptanmıştır. ACTN3 ve ACE gen polimorfizmi arasında haplogrupları karşılaştırdığımızda CT+ID' nin daha yüksek olduğu belirlenmiştir. Futbolcular üzerinde gerçekleştirilen çalışmamızın bundan sonra yapılacak olan çalışmalara öncülük edeceğini düşünmekteyiz.
Nükleer solunum faktörü 2, GA Bağlayıcı Protein Transkripsiyon Faktörü Alt Birimi Alfa (GABPA) ve GA Bağlayıcı Protein Transkripsiyon Faktörü Alt Birimi Beta 1 (GAPPB1) genleri tarafından sentez edilen polipeptidlerin oluşturduğu hücresel metabolizma için önemli bir solunum faktörüdür. NRF-2 proteininin, hücresel solunum kapasitesini ve egzersiz sırasında ATP üretim hızını arttırdığı bilinmektedir. Ek olarak NRF-1 ile koordineli bir şekilde çalışarak mitokondriyal biyogenezi indükler ve nükleo-mitokondriyal etkileşimlerde önemli bir rol oynar. Gen üzerinde bulunan fonksiyonel bir polimorfizm (rs7181866, G/A) proteinin çalışma mekanizmasını etkileyerek hücresel solunum metabolizmasında değişikliklere neden olmaktadır. Yapılan çalışmalar, sporcuların dayanıklılık özellikleri ile rs7181866 AA genotipi ve A alleli arasındaki ilişkiyi ortaya koymuştur. Bu derlemede, rs7181866 polimorfizmi ile ilgili gerçekleştirilmiş çalışmaları bir araya getirmeyi amaçladık.
Studies trying to understand the role of genetic factors in sportive performance has been increasingly enlarging during the past decades. In addition, while trying to understand the relationship between sportive performance and genetic structure, it should not be noted that many factors such as physiology, psychology and environment are also effective. And also association of the candidate genes with sportive performance is influenced by different factors in particular different ethnic populations and small sample sizes. This situation causes the results in different articles to contradict each other. We aimed to determine if there is any meaningful difference between the control and athlete group for M235T polymorphism of AGT (Angiotensinogen) gene in our cohort, short and long distance runners. 24 athletes between the ages of 13-15 are participated in our study. After DNA isolation, genotyping was performed by real-time PCR method. In our cohort, CC, CT, TT genotype and percent distributions for AGT rs699 gene polymorphism are 8 (53.3%), 10 (66.6%), 6 (40%) respectively. In our study, it was determined that CT genotype and C allele carriers were more common in sprinters. Considering the literature studies, it has been determined that the endurance characteristics of the long-distance runners in our cohort overlap with the AGT gene variation they carry. Besides this short-distance runners have a tendency to sports branches that require sprint performance in terms of AGT polymorphism, according to our results.
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
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