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Int J Sports Med 2017; 38(05): 402-406
DOI: 10.1055/s-0042-118649
Genetics & Molecular Biology
© Georg Thieme Verlag KG Stuttgart · New York

Association between ACTN3 R577X Polymorphism and Trunk Flexibility in 2 Different Cohorts

Naoki Kikuchi
1   Department of Training Science, Nippon Sport Science University, Tokyo, Japan
,
Hirofumi Zempo
2   Graduate School of Health and Sports Science, Juntendo University, Chiba, Japan
3   Research fellow of the Japan Society for the Promotion of Science, Tokyo, Japan
,
Noriyuki Fuku
2   Graduate School of Health and Sports Science, Juntendo University, Chiba, Japan
,
Haruka Murakami
4   Health Promotion and Exercise Program, National Institute of Health and Nutrition, NIBIOHN, Tokyo, Japan
,
Mikako Sakamaki-Sunaga
5   Department of Exercise Physiology, Nippon Sport Science University, Tokyo, Japan
,
Takanobu Okamoto
5   Department of Exercise Physiology, Nippon Sport Science University, Tokyo, Japan
,
Koichi Nakazato
5   Department of Exercise Physiology, Nippon Sport Science University, Tokyo, Japan
,
Motohiko Miyachi
4   Health Promotion and Exercise Program, National Institute of Health and Nutrition, NIBIOHN, Tokyo, Japan
› Author Affiliations
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Publication History



accepted after revision 27 September 2016

Publication Date:
16 March 2017 (online)

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Abstract

α-Actinin-3 (ACTN3) R577X polymorphism is associated with muscular strength and power. This study was performed to investigate the association between ACTN3 R577X polymorphisms and flexibility as another component of fitness in 2 cohorts. Cohort 1 consisted of 208 men and 568 women (ages 23–88), while Cohort 2 consisted of 529 men and 728 women (ages 23–87). All participants were recruited from the Tokyo metropolitan area and underwent a battery of tests to assess their grip strength and sit-and-reach flexibility. Genotyping results were analyzed for ACTN3 (rs1815739) polymorphism using the TaqMan approach. In Cohort 1, sit-and-reach in the RR genotype (35.3±0.7 cm) was significantly lower than those in the RX and XX genotypes (37.2±0.3 cm) even after adjusting for sex, age, and exercise habit as covariates (P<0.01). In Cohort 2, sit-and-reach tended to be lower in RR (38.1±0.6 cm) than in RX and XX (39.1±0.3 cm), but the differences were not significant (P=0.114). Analysis in pooled subjects indicated that RR was associated with significantly lower flexibility than RX and XX (P=0.009). The RR genotype of ACTN3 R577X in the general Japanese population showed lower flexibility compared to the RX and XX genotypes.

Key words

α-actinin 3 - genotype - sit-and-reach - meta-analysis
 

  • References

  • 1 Beggs AH, Byers TJ, Knoll JH, Boyce FM, Bruns GA, Kunkel LM. Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. J Biol Chem 1992; 267: 9281-9288
    PubMedGoogle Scholar
  • 2 Blanchard A, Ohanian V, Critchley D. The structure and function of alpha-actinin. J Muscle Res Cell Motil 1989; 10: 280-289
    CrossrefPubMedGoogle Scholar
  • 3 Brandenburg JE, Eby SF, Song P, Zhao H, Brault JS, Chen S, An KN. Ultrasound elastography: the new frontier in direct measurement of muscle stiffness. Arch Phys Med Rehabil 2014; 95: 2207-2219
    CrossrefPubMedGoogle Scholar
  • 4 Bray MS, Hagberg JM, Perusse L, Rankinen T, Roth SM, Wolfarth B, Bouchard C. The human gene map for performance and health-related fitness phenotypes: the 2006-2007 update. Med Sci Sports Exer 2009; 41: 35-73
    PubMedGoogle Scholar
  • 5 Broos S, Malisoux L, Theisen D, Francaux M, Deldicque L, Thomis MA. Role of alpha-actinin-3 in contractile properties of human single muscle fibers: a case series study in paraplegics. PloS one 2012; 7: e49281
    CrossrefPubMedGoogle Scholar
  • 6 Cahalan R, Purtill H, O'Sullivan P, O'Sullivan K. A cross-sectional study of elite adult Irish dancers: biopsychosocial traits, pain, and injury. J Dance Med Sci 2015; 19: 31-43
    CrossrefPubMedGoogle Scholar
  • 7 Chatterjee S, Das N. Physical and motor fitness in twins. Jpn J Physiol 1995; 45: 519-534
    CrossrefPubMedGoogle Scholar
  • 8 Corbin CB. Flexibility. Clin Sports Med 1984; 3: 101-117
    CrossrefPubMedGoogle Scholar
  • 9 Deschamps CL, Connors KE, Klein MS, Johnsen VL, Shearer J, Vogel HJ, Devaney JM, Gordish-Dressman H, Many GM, Barfield W, Hoffman EP, Kraus WE, Hittel DS. The ACTN3 R577X polymorphism is associated with cardiometabolic fitness in healthy young adults. PloS one 2015; 10: e0130644
    CrossrefPubMedGoogle Scholar
  • 10 Douda HT, Toubekis AG, Avloniti AA, Tokmakidis SP. Physiological and anthropometric determinants of rhythmic gymnastics performance. Int J Sports Physiol Perform 2008; 3: 41-54
    CrossrefPubMedGoogle Scholar
  • 11 Eynon N, Hanson ED, Lucia A, Houweling PJ, Garton F, North KN, Bishop DJ. Genes for elite power and sprint performance: ACTN3 leads the way. Sports Med 2013; 43: 803-817
    CrossrefPubMedGoogle Scholar
  • 12 Fiuza-Luces C, Ruiz JR, Rodriguez-Romo G, Santiago C, Gomez-Gallego F, Yvert T, Cano-Nieto A, Garatachea N, Moran M, Lucia A. Are ‘endurance’ alleles 'survival' alleles? Insights from the ACTN3 R577X polymorphism. PloS one 2011; 6: e17558
    CrossrefPubMedGoogle Scholar
  • 13 Garrett WE, Califf JC, Bassett FH. Histochemical correlate of hamstring injuries. Am J Sports Med 1984; 12: 98-103
    CrossrefPubMedGoogle Scholar
  • 14 Gomez-Gallego F, Santiago C, Gonzalez-Freire M, Muniesa CA, Fernandez Del Valle M, Perez M, Foster C, Lucia A. Endurance performance: genes or gene combinations?. Int J Sports Med 2009; 30: 66-72
    Article in Thieme ConnectPubMedGoogle Scholar
  • 15 Harriss DJ, Atkinson G. Ethical standards in sport and exercise science research: 2016 update. Int J Sports Med 2015; 36: 1121-1124
    Article in Thieme ConnectPubMedGoogle Scholar
  • 16 Hartig DE, Henderson JM. Increasing hamstring flexibility decreases lower extremity overuse injuries in military basic trainees. Am J Sports Med 1999; 27: 173-176
    CrossrefPubMedGoogle Scholar
  • 17 Harvey L, Herbert R, Crosbie J. Does stretching induce lasting increases in joint ROM? A systematic review. Physiother Res Int 2002; 7: 1-13
    CrossrefPubMedGoogle Scholar
  • 18 Kennedy RB, Ovsyannikova IG, Haralambieva IH, Lambert ND, Pankratz VS, Poland GA. Genetic polymorphisms associated with rubella virus-specific cellular immunity following MMR vaccination. Hum Genet 2014; 133: 1407-1417
    CrossrefPubMedGoogle Scholar
  • 19 Kikuchi N, Miyamoto-Mikami E, Murakami H, Nakamura T, Min SK, Mizuno M, Naito H, Miyachi M, Nakazato K, Fuku N. ACTN3 R577X genotype and athletic performance in a large cohort of Japanese athletes. Eur J Sport Sci 2016; 16: 694-701
    CrossrefPubMedGoogle Scholar
  • 20 Kikuchi N, Nakazato K, Min SK, Ueda D, Igawa S. The ACTN3 R577X polymorphism is associated with muscle power in male Japanese athletes. J Strength Cond Res 2014; 28: 1783-1789
    CrossrefPubMedGoogle Scholar
  • 21 Kikuchi N, Ueda D, Min SK, Nakazato K, Igawa S. The ACTN3 XX genotype's underrepresentation in Japanese elite wrestlers. Int J Sports Physiol Perform 2013; 8: 57-61
    CrossrefPubMedGoogle Scholar
  • 22 Kim JH, Jung ES, Kim CH, Youn H, Kim HR. Genetic associations of body composition, flexibility and injury risk with ACE, ACTN3 and COL5A1 polymorphisms in Korean ballerinas. J Exerc Nutrition Biochem 2014; 18: 205-214
    Google Scholar
  • 23 Mayorga-Vega D, Merino-Marban R, Viciana J. Criterion-Related Validity of Sit-and-Reach Tests for Estimating Hamstring and Lumbar Extensibility: a Meta-Analysis. Med Sci Sports Exer 2014; 13: 1-14
    PubMedGoogle Scholar
  • 24 Mikami E, Fuku N, Murakami H, Tsuchie H, Takahashi H, Ohiwa N, Tanaka H, Pitsiladis YP, Higuchi M, Miyachi M, Kawahara T, Tanaka M. ACTN3 R577X genotype is associated with sprinting in elite Japanese athletes. Int J Sports Med 2014; 35: 172-177
    Article in Thieme ConnectPubMedGoogle Scholar
  • 25 Mills M, Yang N, Weinberger R, Vander Woude DL, Beggs AH, Easteal S, North K. Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy. Hum Mol Genet 2001; 10: 1335-1346
    CrossrefPubMedGoogle Scholar
  • 26 Morucci G, Punzi T, Innocenti G, Gulisano M, Ceroti M, Pacini S. New frontiers in sport training: genetics and artistic gymnastics. J Strength Cond Res 2014; 28: 459-466
    CrossrefPubMedGoogle Scholar
  • 27 North K. Why is alpha-actinin-3 deficiency so common in the general population? The evolution of athletic performance. Twin Res Hum Genet 2008; 11: 384-394
    CrossrefPubMedGoogle Scholar
  • 28 Prado LG, Makarenko I, Andresen C, Kruger M, Opitz CA, Linke WA. Isoform diversity of giant proteins in relation to passive and active contractile properties of rabbit skeletal muscles. J Gen Physiol 2005; 126: 461-480
    CrossrefPubMedGoogle Scholar
  • 29 Rodriguez-Rodriguez L, Ramon Lamas J, Abasolo L, Baena S, Olano-Martin E, Collado A, Rivera J, Fernandez-Gutierrez B. The rs3771863 single nucleotide polymorphism of the TACR1 gene is associated to a lower risk of sicca syndrome in fibromyalgia patients. Clin Exp Rheumatol 2015; 33: 33-40
    PubMedGoogle Scholar
  • 30 Seto JT, Lek M, Quinlan KG, Houweling PJ, Zheng XF, Garton F, MacArthur DG, Raftery JM, Garvey SM, Hauser MA, Yang N, Head SI, North KN. Deficiency of alpha-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling. Hum Mol Genet 2011; 20: 2914-2927
    CrossrefPubMedGoogle Scholar
  • 31 Shang X, Li Z, Cao X, Xie C, Gu M, Chen P, Yang X, Cai J. The association between the ACTN3 R577X polymorphism and noncontact acute ankle sprains. J Sports Sci 2015; 33: 1775-1779
    CrossrefPubMedGoogle Scholar
  • 32 Toursel T, Stevens L, Granzier H, Mounier Y. Passive tension of rat skeletal soleus muscle fibers: effects of unloading conditions. J Appl Physiol 2002; 92: 1465-1472
    CrossrefPubMedGoogle Scholar
  • 33 Tringali C, Brivio I, Stucchi B, Silvestri I, Scurati R, Michielon G, Alberti G, Venerando B. Prevalence of a characteristic gene profile in high-level rhythmic gymnasts. J Sports Sci 2014; 32: 1409-1415
    CrossrefPubMedGoogle Scholar
  • 34 Tskhovrebova L, Trinick J. Roles of titin in the structure and elasticity of the sarcomere. J Biomed Biotechnol 2010; 2010: 612482
    PubMedGoogle Scholar
  • 35 Vincent B, De Bock K, Ramaekers M, Van den Eede E, Van Leemputte M, Hespel P, Thomis MA. ACTN3 (R577X) genotype is associated with fiber type distribution. Physiol Genomics 2007; 32: 58-63
    CrossrefPubMedGoogle Scholar
  • 36 Yamamoto K, Kawano H, Gando Y, Iemitsu M, Murakami H, Sanada K, Tanimoto M, Ohmori Y, Higuchi M, Tabata I, Miyachi M. Poor trunk flexibility is associated with arterial stiffening. Am J Physiol 2009; 297: H1314-H1318
    PubMedGoogle Scholar
  • 37 Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, North K. ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet 2003; 73: 627-631
    CrossrefPubMedGoogle Scholar
  • 38 Zempo H, Tanabe K, Murakami H, Iemitsu M, Maeda S, Kuno S. ACTN3 polymorphism affects thigh muscle area. Int J Sports Med 2010; 31: 138-142
    Article in Thieme ConnectPubMedGoogle Scholar