Assoсiation analysis of gene polymorphisms col1a, mct1, col12a1 with sports hernia in football players
O.Y. Ioffe1, A.V. Omelchenko1, S.V. Goncharov2,3, D.O. Strоy2, S.B. Drozdovska4, O.P. Stetsenko1, M.S. Kryvopustov1, Y.A. Dibrova1, T.M. Galyga1, A.V. Vasilyev1, V.M. Perepadya1,T.V. Tarasiuk1,V.E. Dosenko2
- O.O. Bogomoletz National Medical University, Kyiv, Ukraine
- О.O.Bogomoletz Institute of Physiology National Academy of Sciences of Ukraine, Kyiv, Ukraine
- Private higher educational establishment «Kyiv Medical University»
- National University of Physical Education and Sports of Ukraine, Kyiv; Ukraine
DOI: https://doi.org/10.15407/fz66.06.033
![](/images/cite.png)
Abstract
Sports hernias are diagnosed in over 80% of athletes presenting with chronic groin pain. The genotype
distributions of the examined polymorphisms were studied in 95 football players, all males, using the
Copenhagen Hip and Groin Outcome Score (HAGOS) questionnaire. DNA extracted from buccal epithelium.
Statistical calculations were performed in the R statistical environment (r-project.org) and Odds ratios
(OR) were used to estimate genotype associations. Multifactor dimensionality reduction was used to identify
multiple sports hernia susceptibility loci.Two single nucleotide polymorphisms MCT1 rs1049434 and
COL1A1 rs1800012 are associated with sports hernias (63% testing accuracy shown by random forest).
According to the HAGOS questionnaire outcomes, exercise-related pain, reduced mobility, and range of
motion in the groin and thigh are typically associated with sports hernia diagnosis (75% testing accuracy
shown by random forest).The combination of genetic research and HAGOS questionnaire helped obtain
a sensitivity of 93% for the detection of sports hernia. Active engagement in sport is the most important
risk factor for sports hernia, so the identification genes SNP in footballers may contribute to taking timely
preventive actions. This study is the first demonstration of an association between sports hernia and COL1A1
rs1800012 genotype. The study discovered a synergistic interaction between the indicated polymorphism
and the gene polymorphism MCT1 rs1049434. Further investigations are required to study the association
between COL12A1 rs240736 gene SNP and sports hernia.
Keywords:
single nucleotide polymorphism; genetics;sports hernia; football player
References
- Werner J, Hägglund M, Waldén M, Ekstrand J. UEFA injury study: a prospective study of hip and groin injuries in professional football over seven consecutive seasons. Br J Sports Med. 2009;43(13):1036-40.
CrossRef
PubMed
- Ahmetov I, Fedotovskaya O. Current progress in sports genomics. AdvClin Chem.2015;(70):247-314.
CrossRef
PubMed
- Ahmetov I, Egorova E, Gabdrakhmanova L, Fedotovskaya O. Genes and athletic performance: an update. Med Sport Sci. 2016;(61):41-54.
CrossRef
PubMed
Wolfarth B, Rankinen T, Mühlbauer S, Scherr J, Boulay MR, Pérusse L, et al.Association between a beta2- adrenergic receptor polymorphism and elite endurance performance. Metabolism. 2007;(56):1649-51
CrossRef
PubMed
- Mattsson C, Wheeler M, Waggott D, Caleshu C, Ashley E. Sports genetics moving forward: lessons learned from medical research. Physiol Genomics.2016;(48):175-82.
CrossRef
PubMed
- Dubouchaud H, Butterfield G, Wolfel E, et al. Endurance training, expression, and 299 physiology of LDH, MCT1, and MCT4 in human skeletal muscle. Am J Physiol 300EndocrinolMetab.2000; 278(4):571-79.
CrossRef
PubMed
- Juffer P, Furrer R, Gonza'lez-Freire M, Santiago C, Verde Z, Serratosa L, Morate J, Rubio C, Martin M, Ruiz J, Arenas J, Go'mez-Gallego F,and Lucia A. Genotype distributions in top-level soccer players: A role for ACE? Int J Sports Med. 2009;(30):387-92.
CrossRef
PubMed
- Cupeiro R, Benito P, Maffulli N, et al. MCT1 genetic polymorphism influence in high 317 intensity circuit training: a pilot study. J Sci Med Sport. 2010;13(5):526-30.
CrossRef
PubMed
- Massidda M, Corrias L, Bachis V, Culigioni C, Piras F, Scorcu M, and Calo C. Genetic polymorphisms and muscle injuries among Italian soccer players. Ann Sports Med Res. 2014;(1):1004.
CrossRef
PubMed PubMedCentral
- Slaughter M, Lohman T, Boileau R, Horswill C, Stillman R, Van Loan M, and Bemben D. Skinfold equations for estimation of body fatness in children and youth. Hum Biol. 1998;(5):709-23.
- Massidda M, Scorcu M and Calo C. New genetic model for predicting phenotype traits in sports. Int J Sports Physiol Perform. 2014;(9):554-60.
CrossRef
PubMed
- Massidda M, Eynon N, Bachis V, Corrias L, Culigioni C, Cugia P, Scorcu M and Calo C. Association between MCT1 A1470T polymorphism and fat-free mass in well-trained young soccer players. J Strength Cond Res. 2016;30(4):1171-76.
CrossRef
PubMed
- Merezhinskaya N, Fishbein N, Davis J and Foellmer J. Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport. Muscle Nerve. 2000;(23):90-7.
CrossRef
- Sawczuk M, Banting L, Cięszczyk P, MaciejewskaKarłowska A, Zarębska A, Leońska-Duniec A, Eynon N. MCT1 A1470T: A novel polymorphism for sprint performance? J Sci Med Sport. 2015;18(1):114-18.
CrossRef
PubMed
- Thorborg K, Hölmich P, Christensen R, et al. The Copenhagen Hip and Groin Outcome Score (HAGOS): development and validation according to the COSMIN checklist.Br J Sports Med. 2011;(45):478-91.
CrossRef
PubMed
- Goncharov SV, Gurianova VL, Stroy DO, Drevytska TI, Kaplinskii SP, Nastenko EA, Litvinenko M, Terletskiy Material nadiishov do redaktsii 01.09.2020 RV, Khaitovych MV, Moibenko OO, Dosenko VE. Genetic predisposition to essential hypertension in children: analysis of 17 single nucleotide polymorphisms. Fiziol Zh. 2013;59(6):12-24.
CrossRef
PubMed
- Altmuller J, Palmer L, Fisher G, Scherb H, Wjst M. Genomewide scans of complex human diseases: true linkage is hard to find Am J Hum Genet.2001;(69):936-50.
CrossRef
PubMed PubMedCentral
- Jorgenson E, Makki N, Shen L, et al. A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. Nature Commun. 2015;(6),10130.
CrossRef
PubMed PubMedCentral
- Collins M, Posthumus M, Schwellnus M. The COL1A1 gene and acute soft tissue ruptures. Br J Sports Med. 2010;44(14):1063-64.
CrossRef
PubMed
- Posthumus M, September A, Keegan M, et al. Genetic risk factors for anterior cruciate ligament ruptures: SOL1A1 gene variant. Br J Sports Med. 2009;43(5):352-56.
CrossRef
PubMed
- Khoschnau S, Melhus H, Jacobson A, et al. Type I collagen alpha I sp1 polymorphism and the risk of cruciate ligament ruptures or shoulder dislocations. Am J Sports Med.2008;36(12):2432-36.
CrossRef
PubMed
- Cupeiro R, Benito P, Maffulli N, et al. MCT1 genetic polymorphism influence in high 317 intensity circuit training: a pilot study. J Sci Med Sport. 2010;13(5):526-30.
CrossRef
PubMed
- Collins M, Posthumus M, Schwellnus M. The COL1A1 gene and acute soft tissue rupture. Br J Sports Med 2010;44(14):1063-4.
CrossRef
PubMed
- Kambouris M, Ntalouka F, Ziogas G, Maffullini N. Predictive genomics DNA profiling for athletic performance. Recent Patents on DNA & Gene Sequences 2012;6(3):229-39.
CrossRef
PubMed
|