Correlation of four gene polymorphic loci with athlete endurance phenotype

doi:10.3969/j.issn.2095-4344.0863

Abstract

Abstract:

BACKGROUND: Increasing evidence shows that at least 155 genetic polymorphisms are associated with aerobic performance and elite endurance athlete status.
OBJECTIVE: To study the association of α-actin 3 (ACTN3) gene, nuclear respiratory factor 2 (NRF2), β2 adrenergic receptor (ADRB2) gene and peroxisome proliferative activated receptor gamma coactivator 1 alpha(PPARGC1A) polymorphic loci with aerobic performance of rowing athletes and their interaction effect, thereby providing basis for understanding the mechanism of genetic polymorphisms acting on endurance athlete status.
METHODS: A case-control experiment was designed to analyze the distribution characteristics of four gene polymorphism loci in 15 excellent rowing athletes and 50 common college freshmen. The association of four polymorphic loci with the aerobic performance-related indexes was analyzed using total genotype scores.
RESULTS AND CONCLUSION: The preponderant polymorphism locus distributions of ACTN3, PPARGC1A and NRF2 in the athletes group were higher than those in the control group, and the NRF2 gene loci showed significant difference between two groups. In the athletes group, the mean values of VO2 max was significantly different among three genotypes. That is to say, these three genetic polymorphisms may be the biomarkers to predict the elite endurance athlete status, but the mechanism needs to be studied in depth.

中国组织工程研究杂志出版内容重点：组织构建；骨细胞；软骨细胞；细胞培养；成纤维细胞；血管内皮细胞；骨质疏松；组织工程

Key words: Genes, Phenotype, Tissue Engineering

CLC Number:

R318

Wei Qi, Fan Jia-cheng, Du Ya-wen. Correlation of four gene polymorphic loci with athlete endurance phenotype[J]. Chinese Journal of Tissue Engineering Research, 2018, 22(16): 2508-2513.

Figures/Tables 1

References

[1] De Moor MH, Spector TD, Cherkas LF,et al.Genomewide linkage scan for athlete status in 700 British femaleDZ twin pairs.Twin Res Hum Genet.2007;10:812-820.

[2] Simoneau JA, Bouchard C.Genetic determinism offiber type proportion in human skeletal muscle.FASEB J.1995;9:1091-1095.

[3] Alonso L,Souza E, Oliveira M, et al.: Heritability of aerobic power of individuals in northeast Brazil. Biol Sport .2014;31:267-270.

[4] Ahmetov II,Kulemin NA,Popov DV.et al.Genome-wide association study identifies three novel genetic markers associated with elite endurance performance. Biol Sport.2015;32:3-9.

[5] Ruiz JR,Arteta D,Buxens A,et al.Can we identify a poweroriented polygenic profile.JAppl Physiol. 2010;108:561-566.

[6] Alun G. Williams, Jonathan P.Folland. Similarity of polygenic profiles limits the potential for elitehuman physical performance.J Physiol. 2008;586(1):113-121.

[7] Wang G, Padmanabhan S, Wolfarth B,et al. Genomics ofelite sporting performance: what little we know andnecessary advances. Adv Genet. 2013;84: 123-149.

[8] 何子红,胡扬,刘刚,等中国北方地区汉族男性PPARGC1基因多态性与耐力训练效果的关联性研究[J]中国运动医学杂志, 2006,25(2):156-160.

[9] 杨晓琳,胡扬,李燕春,等.ACTN3基因C1747T多态位点作为举重运动员选材用分子标记的可行性研究[J]体育科学, 2010,30(1):70-73.

[10] 罗齐军,刘紫荆,肖驰,等. ADRB2基因A46G多态性与运动耐力相关性分析[J]河北体育学院学报,2012,26(2):80-82．

[11] Ahmetov II,EgorovaEmiliya S, GabdrakhmanovaLeysan J,et al. Genetics and Sports, ed 2, revised, extended.Med Sport Sci. Basel, Karger.2016;(61):41-54.

[12] Rankinen T,Fuku N,Wolfarth B,et al.No Evidence of a Common DNA Variant Profile Specific to World Class Endurance Athletes. PLoS One. 2016;11(1):e0147330.

[13] Bouchard C,Daw EW,Rice T, et al. Familial resemblance forVO2max in the sedentary state: the HERITAGE family study. Medicine and science in sports and exercise.1998;30(2):252-258.

[14] Lortie G,Bouchard C,Leblanc C, et al.Familial similarity in aerobicpower. Hum Biol.1982; 54(4):801-812.

[15] Bouchard C,Tremblay A,Despres JP,et al.The response to exercisewith constant energy intake in identical twins.Obes Res. 1994;2(5):400-410.

[16] Hamel P, Simoneau JA, Lortie G, et al.Heredity and muscle adaptation to endurancetraining.Medicine and science in sports and exercise. 1986;18(6):690-696.

[17] Prudhomme D,Bouchard C,Leblanc C,et al.Sensitivity of maximal aerobic power totraining is genotype-dependent. Medicine and science in sports and exercise. 1984;16(5):489-493.

[18] Bouchard C, An P, Rice T, et al.Familial aggregation of VO(2max)response to exercise training: results from the HERITAGE Family Study. Journal of applied physiology(Bethesda, Md: 1985). 1999;87(3):1003-1008.

[19] Skinner JS, Jaskolski A, Jaskolska A,et al.Age, sex, race, initial fitness,and response to training: the HERITAGE Family Study. Journal of applied physiology (Bethesda,Md:1985). 2001;90(5):1770-1776.

[20] Yang N, MacArthur DG, Gulbin JP, et al.ACTN3 genotype is associated with human elite athletic performance.Am J Hum Genet. 2003;73(3): 627-631.

[21] Moran CN, Yang N, Bailey ME, et al.Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks.Eur J Hum Genet.2007;15(1):88-93.

[22] Niemi AK, Majamaa K.Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes.Eur J Hum Genet.2005; 13(8):965-969.

[23] Lucia A, Gomez-Gallego F, Santiago C, et al.ACTN3 genotype in professional endurance cyclists.Int J Sports Med.2006;27(11):880-884.

[24] Clarkson PM, Hoffman EP, Zambraski E,et al. ACTN3 and MLCK genotype associations with exertional muscle damage.J Appl Physiol. 2005;99(2):564-569.

[25] Roth SM,Walsh S,Liu D,et al. The ACTN3 R577X nonsenseallele is under-represented in elite-level strength athletes.Eur J Hum Genet. 2008;16(3):391-394.

[26] Clarkson PM, Devaney JM, Gordish-Dressman H, et al.ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women.J Appl Physiol.2005; 99:154-163.

[27] 杨贤罡,李燕春,胡扬. ACTN3基因R577X多态性与运动能力的关联性研究:Meta分析[J].体育科学,2011,31(3):44-52

[28] Kelly DP, Scarpulla RC. Transcriptional regulatory circuits controlling mitochondrial biogenesis and function. Genes Dev.2004,18:357-368.

[29] Scarpulla RC. Nuclear activators and coactivators in mammalian mitochondrial biogenesis.Biochim Biophys Acta 2002;1576:1-14.

[30] Bouchard C, Rankinen T, Chagnon YC,et al. Genomic scan for maximal oxygen uptake and its response to training in the HERITAGE Family Study. J Appl Physiol.2000;88:551-559.

[31] Ostrander EA, Huson HJ, Ostrander GK. Genetics of athletic performance.Annu Rev Genomics Hum Genet. 2009;10: 407-429.

[32] 何子红,许志勇,陆霞,等.NRF2基因多态性与中国北方地区汉族男性有氧能力的关联[J].中国运动医学杂志,2007,26(2):139-144.

[33] He Z, Hu Y, Feng L,et al.NRF2 genotype improves endurance capacity in response to training.Int J Sports Med. 2007;28:717-721.

[34] Wolfarth B, Rivera MA, Oppert JM,et al.A polymorphism in the alpha2a-adrenoceptor gene and endurance athlete status.Med Sci Sports Exerc.2000;32:1709-1712.

[35] Wolfarth B, Rankinen T,Muhlbauer S,et al.Association between a beta2-adrenergic receptor polymorphism and elite endurance performance. Metabolism.2007;56:1649-1651.

[36] Wagoner LE ,Craft LL ,Singh B,et al.Polymorphisms of the beta2-adrenergic receptor determine exercise capacity in patients with heart failure.Circ Res.2000;86(8):834-840.

[37] Ahmetov II, Mozhayskaya IA, FlavellDM,et al. PPAR-alpha genevariation and physical performance inRussian athletes.Eur J ApplPhysiol.2006;97:103-108.

[38] Lucia A, Gómez-Gallego F, Barroso I, et al.PPARGC1A genotype (Gly482Ser) predicts exceptional endurancecapacity in European men. J Appl Physiol. 2005;99:344-348 .

[39] Franks PW, BarrosoJ, Luan JA, et al.PGC1a Genotype modifies the association of volitional energy expenditure with VO2max .Med Sci Sports Everv.2003;35(12):1998-2004.

[40] Mathai AS, Bonen A, Benton CR,et al.Rapid exercise-induced changes inPGC-1alpha mRNA and protein in human skeletal muscle. Journal of Applied Physiology. 2008;105:1098-1105.

[41] Stumvoll M,Fritsche A,t' Hart LM,et al.The Gly482Servariant in the peroxisome proliferator -activated receptor gammacoactivator -1 is not associated with diabetes –relatedtraits in non -diabetic German and Dutch populations.Exp Clin Endocrinol Diabetes. 2004;112(5):253-257

[42] 何子红,胡扬,刘刚.中国北方地区汉族男性PPARGC1基因多态性与耐力训练效果的关联性研究[J].中国运动医学杂志,2006,25(2):156-160

[43] Eynon N, Hanson ED, Lucia A, et al.DoPPARGC1A and PPARa polymorphisms influence sprint orendurance phenotypes?Scand J Med Sci Sports.2010;20: e145-e150

[44] Maciejewska A, Sawczuk M, Cieszczyk P, ThePPARGC1Agene Gly482Ser in Polish and Russian athletes,J Sports Sci. 2012;30(1): 101-113.

[45] RankinenT,Wolfarth B, Simoneau JA, Maier-Lenz D,et al.No associationbetween the angiotensin-converting enzyme ID polymorphism and elite endurance athlete status. Journal of applied physiology (Bethesda,Md: 1985). 2000; 88(5):1571-1575.

[46] Rivera MA, Dionne FT, Simoneau JA,et al. Muscle-specific creatinekinase gene polymorphism and VO2max in the HERITAGE Family Study. Medicine and science insports and exercise. 1997; 29(10):1311-1317.

[47] Rivera MA, Perusse L, Gagnon J, et al.A mitochondrial DNA D-looppolymorphism and obesity in three cohorts of women. Int J ObesRelatMetabDisord.1999; 23(6):666-668.

[48] Wolfarth B, Rankinen T, Muhlbauer S,et al.Endothelial nitric oxidesynthase gene polymorphism and elite endurance athlete status: the Genathlete study.Scand J Med Sci Sports. 2008;18(4):485-490.

[49] Bray MS, Hagberg JM, Perusse L,et al.The human gene map forperformance and health-related fitness phenotypes: the 2006-2007 update. Med Sci Sports Exerc. 2009;41(1):35-73.

[50] Mikami E, Fuku N, Takahashi H, et al. Polymorphisms in the controlregion of mitochondrial DNA associated with elite Japanese athlete status. Scand J Med Sci Sports.2013; 23(5):593-599.