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GENÇ ATLETLERDE BAĞ DOKUSU VE KAS YARALANMA RİSKİ İLE İLGİLİ MCT1 (SLC16A1) GENİ A/T POLİMORFİZMİ VE GDF5 GENİ T/C POLİMORFİZMİNE AİT GENETİK PROFİLİN BELİRLENMESİ

Year 2024, Volume: 22 Issue: 2, 16 - 24
https://doi.org/10.33689/spormetre.1487161

Abstract

Bu araştırmada, genç atletlerde kas yaralanması ile ilgili MCT1 (SLC16A1) geni A/T polimorfizmi ve bağ doku hasarı ile ilgili GDF5 T/C polimorfizmi çalışılarak bağ doku ve kas yaralanması ile ilgili sporcu grubunda kontrol grubuna göre alel dağılımında bir farklılık bulunup bulunmadığı araştırılmıştır. Deney ve kontrol grubuna ait alel dağılımlarının dengede olup olmadığı Hardy-Weinberg eşitliği kullanılarak test edilmiştir. Gruplar arasındaki farklılık Chi square Testi ile analiz edilmiştir. Güven aralığı %95 olarak belirlenmiştir (p<0,05). Araştırmanın sonucunda SLC16A1 geni A/T polimorfizmi (rs1049434) açısından kontrol grubu ve sporcular arasında anlamlı bir fark bulunmamıştır. GDF5 geni T/C polimorfizmi (rs143383) açısından sporcular ile kontrol grubu arasında anlamlı bir fark bulunmuştur. Sporculardaki CC ve TC genotipi kontrol grubunda bulunan bireylerdeki TT genotipinden daha sık görülmüştür. Bu durum sporcuların lehinedir. Araştırma kapsamında çalışılan SLC16A1 ve GDF5 gen polimorfizmleri elit sporcu gruplarında çalışılarak belirlenen genotipler sonucunda antrenörler ve kulüp spor hekimleri bilgilendirilip yaralanmanın engellenmesine yönelik antrenmanlar planlanılması ve olası yaralanma durumunda müdahale için stratejiler geliştirilebilir.

Ethical Statement

Deney ve kontrol gruplarının seçiminde etik kurallara uyulmuştur. Grup seçimi sırasında kan örnekleri alınacak olduğundan reşit olmayan sporcu ve kontrol grubu için Ebeveyn Onam Formu ve Çocuk Onam Formu hazırlanarak hem ailelerden hem de sporcu ve kontrol grubunu oluşturan çocuklardan izin alındı. Araştırma için Gümüşhane Üniversitesi Etik Kurulu'ndan onay alındı (Karar No: E-95674917-108.99-101079, Karar Tarihi: 22/06/2022). Lisanslı sporcularla çalışmak için Gümüşhane Gençlik ve Spor İl Müdürlüğü'nden izin alındı.

Supporting Institution

-

Thanks

Araştırmamıza katılan tüm kişilere ve antrenörlere teşekkür ederiz. Genetik analizlerimizi gerçekleştirdiğimiz Genoks Genetik Hastalıklar Değerlendirme Merkezi'ne de teşekkür ederiz.

References

  • Ames, P. R. J., Longo, U. G., Denaro, V., & Maffulli, N. (2008). Achilles tendon problems: not just an orthopaedic issue. Disability and rehabilitation, 30(20-22), 1646-1650. https://doi.org/10.1080/09638280701785882.
  • Collins, M., & September, A. V. (2023). Are commercial genetic injury tests premature?. Scandinavian Journal of Medicine & Science in Sports, 33(9), 1584-1597. https://doi.org/10.1111/sms.14406.
  • Cupeiro, R., Benito, P. J., Maffulli, N., Calderón, F. J., & González-Lamuño, D. (2010). MCT1 genetic polymorphism influence in high intensity circuit training: a pilot study. Journal of science and medicine in sport, 13(5), 526-530. https://doi.org/10.1016/j.jsams.2009.07.004.
  • Evangelou, E., Chapman, K., Meulenbelt, I., Karassa, F. B., Loughlin, J., Carr, A., ... & Ioannidis, J. P. (2009). Large‐scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand. Arthritis & Rheumatism: Official Journal of the American College of Rheumatology, 60(6), 1710-1721.. https://doi.org/10.1002/art.24524.
  • Fedotovskaya, O. N., Mustafina, L. J., Popov, D. V., Vinogradova, O. L., & Ahmetov, I. I. (2014). A common polymorphism of the MCT1 gene and athletic performance. International journal of sports physiology and performance, 9(1), 173-180. https://doi.org/10.1123/ijspp.2013-0026.
  • Guilherme, J. P., Bosnyák, E., Semenova, E., Szmodis, M., Griff, A., Móra, Á., ... & Junior, A. L. (2021). The MCT1 gene Glu490Asp polymorphism (rs1049434) is associated with endurance athlete status, lower blood lactate accumulation and higher maximum oxygen uptake. Biology of sport, 38(3), 465-474. https://doi.org/10.5114/biolsport.2021.101638.
  • Halestrap, A. P., & Wilson, M. C. (2012). The monocarboxylate transporter family—role and regulation. IUBMB life, 64(2), 109-119. https://doi.org/10.1002/iub.572.
  • Jones, A, Montgomery, H.E, Woods, D.R. (2002). Human performance: a role for the ACE genotype? Exerc Sport Sci Rev, 30(4), 184–190.
  • La Montagna, R., Canonico, R., Alfano, L., Bucci, E., Boffo, S., Staiano, L., ... & Giordano, A. (2020). Genomic analysis reveals association of specific SNPs with athletic performance and susceptibility to injuries in professional soccer players. Journal of cellular physiology, 235(3), 2139-2148. https://doi.org/10.1002/jcp.29118.
  • Lippi, G., Longo, U. G., & Maffulli, N. (2010). Genetics and sports. British medical bulletin, 93(1), 27-47. https://doi.org/10.1093/bmb/ldp007.
  • Longo, U. G., Fazio, V., Poeta, M. L., Rabitti, C., Franceschi, F., Maffulli, N., & Denaro, V. (2010). Bilateral consecutive rupture of the quadriceps tendon in a man with BstUI polymorphism of the COL5A1 gene. Knee Surgery, Sports Traumatology, Arthroscopy, 18, 514-518. https://doi.org/10.1007/s00167-009-1002-y.
  • Longo, U. G., Ramamurthy, C., Denaro, V., & Maffulli, N. (2008). Minimally invasive stripping for chronic Achilles tendinopathy. Disability and rehabilitation, 30(20-22), 1709-1713. https://doi.org/10.1080/09638280701786922.
  • Maffulli, N. (1998). Overuse tendon conditions: time to change a confusing terminology. Arthroscopy: The Journal of Arthroscopic & Related Surgery, 14(8), 840-843. https://doi.org/10.1016/S0749-8063(98)70021-0.
  • Maffulli, N., Longo, U. G., Gougoulias, N., Loppini, M., & Denaro, V. (2010). Long-term health outcomes of youth sports injuries. British journal of sports medicine, 44(1), 21-25. https://doi.org/10.1136/bjsm.2009.069526.
  • Maffulli, N., Margiotti, K., Longo, U. G., Loppini, M., Fazio, V. M., & Denaro, V. (2013). The genetics of sports injuries and athletic performance. Muscles, ligaments and tendons journal, 3(3), 173.
  • Massidda, M., Eynon, N., Bachis, V., Corrias, L., Culigioni, C., Piras, F., ... & Calò, C. M. (2015). Influence of the MCT1 rs1049434 on indirect muscle disorders/injuries in elite football players. Sports medicine-open, 1(1), 1-6. https://doi.org/10.1186/s40798-015-0033-9.
  • McCabe, K., & Collins, C. (2018). Can genetics predict sports injury? The association of the genes GDF5, AMPD1, COL5A1 and IGF2 on soccer player injury occurrence. Sports, 6(1), 21. https://doi.org/10.3390/sports6010021.
  • Merezhinskaya, N., Fishbein, W. N., Davis, J. I., & Foellmer, J. W. (2000). Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport. Muscle & Nerve: Official Journal of the American Association of Electrodiagnostic Medicine, 23(1), 90-97. https://doi.org/10.1002/(SICI)10974598(200001)23:1<90::AID-MUS12>3.0.CO;2-M.
  • Miyamoto, Y., Mabuchi, A., Shi, D., Kubo, T., Takatori, Y., Saito, S., ... & Ikegawa, S. (2007). A functional polymorphism in the 5′ UTR of GDF5 is associated with susceptibility to osteoarthritis. Nature genetics, 39(4), 529-533. https://doi.org/10.1038/2005.
  • Peterson, L., & Renstrom, P. A. (2019). Sports injuries. CRC Press.
  • Rubio, J. C., Martin, M. A., Rabadán, M., Gómez-Gallego, F., San Juan, A. F., Alonso, J. M., ... & Lucia, A. (2005). Frequency of the C34T mutation of the AMPD1 gene in world-class endurance athletes: does this mutation impair performance?. Journal of applied physiology, 98(6), 2108-2112. https://doi.org/10.1152/japplphysiol.01371.2004.
  • Sawczuk, M., Banting, L. K., Cięszczyk, P., Maciejewska-Karłowska, A., Zarębska, A., Leońska-Duniec, A., ... & Eynon, N. (2015). MCT1 A1470T: a novel polymorphism for sprint performance?. Journal of science and medicine in sport, 18(1), 114-118. https://doi.org/10.1016/j.jsams.2013.12.008.
  • Southam, L., Rodriguez-Lopez, J., Wilkins, J. M., Pombo-Suarez, M., Snelling, S., Gomez-Reino, J. J., ... & Loughlin, J. (2007). An SNP in the 5′-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage. Human molecular genetics, 16(18), 2226-2232. https://doi.org/10.1093/hmg/ddm174.
  • Yang, N., MacArthur, D. G., Gulbin, J. P., Hahn, A. G., Beggs, A. H., Easteal, S., & North, K. (2003). ACTN3 genotype is associated with human elite athletic performance. The American Journal of human genetics, 73(3), 627-631.

DETERMINATION OF THE GENETIC PROFILE OF MCT1 (SLC16A1) GENE A/T POLYMORPHISM AND GDF5 GENE T/C POLYMORPHISM RELATED TO CONNECTIVE TISSUE AND MUSCLE INJURY RISK IN YOUNG ATHLETES

Year 2024, Volume: 22 Issue: 2, 16 - 24
https://doi.org/10.33689/spormetre.1487161

Abstract

In this study, MCT1 (SLC16A1) gene A/T polymorphism related to muscle injury and GDF5 T/C polymorphism related to connective tissue damage in young athletes were studied and it was investigated whether there was a difference in allele distribution in the athlete group related to connective tissue and muscle injury compared to the control group. Whether the allele distributions of the experimental and control groups were in balance was tested using the Hardy-Weinberg equation. Differences between groups were analyzed with Chi square Test. The confidence interval was determined as 95% (p<0.05). As a result of the research, no significant difference was found between the control group and athletes in terms of SLC16A1 gene A/T polymorphism (rs1049434). A significant difference was found between the athletes and the control group in terms of GDF5 gene T/C polymorphism (rs143383). CC and TC genotypes in athletes were more common than TT genotypes in individuals in the control group. This situation is in favor of athletes. As a result of the genotypes determined by studying the SLC16A1 and GDF5 gene polymorphisms in elite athlete groups within the scope of the research, coaches and club sports physicians can be informed and strategies can be developed to plan training to prevent injuries and to intervene in case of possible injury.

References

  • Ames, P. R. J., Longo, U. G., Denaro, V., & Maffulli, N. (2008). Achilles tendon problems: not just an orthopaedic issue. Disability and rehabilitation, 30(20-22), 1646-1650. https://doi.org/10.1080/09638280701785882.
  • Collins, M., & September, A. V. (2023). Are commercial genetic injury tests premature?. Scandinavian Journal of Medicine & Science in Sports, 33(9), 1584-1597. https://doi.org/10.1111/sms.14406.
  • Cupeiro, R., Benito, P. J., Maffulli, N., Calderón, F. J., & González-Lamuño, D. (2010). MCT1 genetic polymorphism influence in high intensity circuit training: a pilot study. Journal of science and medicine in sport, 13(5), 526-530. https://doi.org/10.1016/j.jsams.2009.07.004.
  • Evangelou, E., Chapman, K., Meulenbelt, I., Karassa, F. B., Loughlin, J., Carr, A., ... & Ioannidis, J. P. (2009). Large‐scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand. Arthritis & Rheumatism: Official Journal of the American College of Rheumatology, 60(6), 1710-1721.. https://doi.org/10.1002/art.24524.
  • Fedotovskaya, O. N., Mustafina, L. J., Popov, D. V., Vinogradova, O. L., & Ahmetov, I. I. (2014). A common polymorphism of the MCT1 gene and athletic performance. International journal of sports physiology and performance, 9(1), 173-180. https://doi.org/10.1123/ijspp.2013-0026.
  • Guilherme, J. P., Bosnyák, E., Semenova, E., Szmodis, M., Griff, A., Móra, Á., ... & Junior, A. L. (2021). The MCT1 gene Glu490Asp polymorphism (rs1049434) is associated with endurance athlete status, lower blood lactate accumulation and higher maximum oxygen uptake. Biology of sport, 38(3), 465-474. https://doi.org/10.5114/biolsport.2021.101638.
  • Halestrap, A. P., & Wilson, M. C. (2012). The monocarboxylate transporter family—role and regulation. IUBMB life, 64(2), 109-119. https://doi.org/10.1002/iub.572.
  • Jones, A, Montgomery, H.E, Woods, D.R. (2002). Human performance: a role for the ACE genotype? Exerc Sport Sci Rev, 30(4), 184–190.
  • La Montagna, R., Canonico, R., Alfano, L., Bucci, E., Boffo, S., Staiano, L., ... & Giordano, A. (2020). Genomic analysis reveals association of specific SNPs with athletic performance and susceptibility to injuries in professional soccer players. Journal of cellular physiology, 235(3), 2139-2148. https://doi.org/10.1002/jcp.29118.
  • Lippi, G., Longo, U. G., & Maffulli, N. (2010). Genetics and sports. British medical bulletin, 93(1), 27-47. https://doi.org/10.1093/bmb/ldp007.
  • Longo, U. G., Fazio, V., Poeta, M. L., Rabitti, C., Franceschi, F., Maffulli, N., & Denaro, V. (2010). Bilateral consecutive rupture of the quadriceps tendon in a man with BstUI polymorphism of the COL5A1 gene. Knee Surgery, Sports Traumatology, Arthroscopy, 18, 514-518. https://doi.org/10.1007/s00167-009-1002-y.
  • Longo, U. G., Ramamurthy, C., Denaro, V., & Maffulli, N. (2008). Minimally invasive stripping for chronic Achilles tendinopathy. Disability and rehabilitation, 30(20-22), 1709-1713. https://doi.org/10.1080/09638280701786922.
  • Maffulli, N. (1998). Overuse tendon conditions: time to change a confusing terminology. Arthroscopy: The Journal of Arthroscopic & Related Surgery, 14(8), 840-843. https://doi.org/10.1016/S0749-8063(98)70021-0.
  • Maffulli, N., Longo, U. G., Gougoulias, N., Loppini, M., & Denaro, V. (2010). Long-term health outcomes of youth sports injuries. British journal of sports medicine, 44(1), 21-25. https://doi.org/10.1136/bjsm.2009.069526.
  • Maffulli, N., Margiotti, K., Longo, U. G., Loppini, M., Fazio, V. M., & Denaro, V. (2013). The genetics of sports injuries and athletic performance. Muscles, ligaments and tendons journal, 3(3), 173.
  • Massidda, M., Eynon, N., Bachis, V., Corrias, L., Culigioni, C., Piras, F., ... & Calò, C. M. (2015). Influence of the MCT1 rs1049434 on indirect muscle disorders/injuries in elite football players. Sports medicine-open, 1(1), 1-6. https://doi.org/10.1186/s40798-015-0033-9.
  • McCabe, K., & Collins, C. (2018). Can genetics predict sports injury? The association of the genes GDF5, AMPD1, COL5A1 and IGF2 on soccer player injury occurrence. Sports, 6(1), 21. https://doi.org/10.3390/sports6010021.
  • Merezhinskaya, N., Fishbein, W. N., Davis, J. I., & Foellmer, J. W. (2000). Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport. Muscle & Nerve: Official Journal of the American Association of Electrodiagnostic Medicine, 23(1), 90-97. https://doi.org/10.1002/(SICI)10974598(200001)23:1<90::AID-MUS12>3.0.CO;2-M.
  • Miyamoto, Y., Mabuchi, A., Shi, D., Kubo, T., Takatori, Y., Saito, S., ... & Ikegawa, S. (2007). A functional polymorphism in the 5′ UTR of GDF5 is associated with susceptibility to osteoarthritis. Nature genetics, 39(4), 529-533. https://doi.org/10.1038/2005.
  • Peterson, L., & Renstrom, P. A. (2019). Sports injuries. CRC Press.
  • Rubio, J. C., Martin, M. A., Rabadán, M., Gómez-Gallego, F., San Juan, A. F., Alonso, J. M., ... & Lucia, A. (2005). Frequency of the C34T mutation of the AMPD1 gene in world-class endurance athletes: does this mutation impair performance?. Journal of applied physiology, 98(6), 2108-2112. https://doi.org/10.1152/japplphysiol.01371.2004.
  • Sawczuk, M., Banting, L. K., Cięszczyk, P., Maciejewska-Karłowska, A., Zarębska, A., Leońska-Duniec, A., ... & Eynon, N. (2015). MCT1 A1470T: a novel polymorphism for sprint performance?. Journal of science and medicine in sport, 18(1), 114-118. https://doi.org/10.1016/j.jsams.2013.12.008.
  • Southam, L., Rodriguez-Lopez, J., Wilkins, J. M., Pombo-Suarez, M., Snelling, S., Gomez-Reino, J. J., ... & Loughlin, J. (2007). An SNP in the 5′-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage. Human molecular genetics, 16(18), 2226-2232. https://doi.org/10.1093/hmg/ddm174.
  • Yang, N., MacArthur, D. G., Gulbin, J. P., Hahn, A. G., Beggs, A. H., Easteal, S., & North, K. (2003). ACTN3 genotype is associated with human elite athletic performance. The American Journal of human genetics, 73(3), 627-631.
There are 24 citations in total.

Details

Primary Language English
Subjects Physical Activity and Health
Journal Section Research Article
Authors

Merve Bektaş 0000-0003-4239-7790

Recep Sürhat Müniroğlu 0000-0003-1250-5420

Early Pub Date June 25, 2024
Publication Date
Submission Date May 20, 2024
Acceptance Date June 25, 2024
Published in Issue Year 2024 Volume: 22 Issue: 2

Cite

APA Bektaş, M., & Müniroğlu, R. S. (2024). DETERMINATION OF THE GENETIC PROFILE OF MCT1 (SLC16A1) GENE A/T POLYMORPHISM AND GDF5 GENE T/C POLYMORPHISM RELATED TO CONNECTIVE TISSUE AND MUSCLE INJURY RISK IN YOUNG ATHLETES. SPORMETRE Beden Eğitimi Ve Spor Bilimleri Dergisi, 22(2), 16-24. https://doi.org/10.33689/spormetre.1487161

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