메뉴 건너뛰기




Volumn 40, Issue 4, 2015, Pages 316-322

The ACTN3 R577X genotype is associated with muscle function in a japanese population

Author keywords

Aging; Muscle function; Muscle strength; Polymorphism; Test battery; actinin 3

Indexed keywords

ACTININ; ACTN3 PROTEIN, HUMAN; STOP CODON;

EID: 84925934284     PISSN: 17155312     EISSN: 17155320     Source Type: Journal    
DOI: 10.1139/apnm-2014-0346     Document Type: Article
Times cited : (28)

References (38)
  • 1
    • 0035023261 scopus 로고    scopus 로고
    • Broad and narrow heritabilities of quantitative traits in a founder population
    • PMID:11309690
    • Abney, M., McPeek, M.S., and Ober, C. 2001. Broad and narrow heritabilities of quantitative traits in a founder population. Am. J. Hum. Genet. 68: 1302-1307. doi:10.1086/320112. PMID:11309690.
    • (2001) Am. J. Hum. Genet , vol.68 , pp. 1302-1307
    • Abney, M.1    McPeek, M.S.2    Ober, C.3
  • 2
    • 80051687981 scopus 로고    scopus 로고
    • HALCyon study team. 2011. ACTN3 genotype, athletic status, and life course physical capability: Meta-analysis of the published literature and findings from nine studies
    • PMID:21542061
    • Alfred, T., Ben-Shlomo, Y., Cooper, R., Hardy, R., Cooper, C., Deary, I.J., et al; HALCyon study team. 2011. ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studies. Hum. Mutat. 32: 1008-0118. doi:10.1002/humu.21526. PMID:21542061.
    • Hum. Mutat , vol.32
    • Alfred, T.1    Ben-Shlomo, Y.2    Cooper, R.3    Hardy, R.4    Cooper, C.5    Deary, I.J.6
  • 3
    • 0026786782 scopus 로고
    • Cloning and characterization of two human skeletal muscle alphaactinin genes located on chromosomes 1 and 11
    • PMID:1339456
    • Beggs, A.H., Byers, T.J., Knoll, J.H., Boyce, F.M., Bruns, G.A., and Kunkel, L.M. 1992. Cloning and characterization of two human skeletal muscle alphaactinin genes located on chromosomes 1 and 11. J. Biol. Chem. 267: 9281-9288. PMID:1339456.
    • (1992) J. Biol. Chem , vol.267 , pp. 9281-9288
    • Beggs, A.H.1    Byers, T.J.2    Knoll, J.H.3    Boyce, F.M.4    Bruns, G.A.5    Kunkel, L.M.6
  • 4
    • 0028269726 scopus 로고
    • Biochemical and immunocytochemical analysis in chronic proximal spinal muscular atrophy
    • PMID:8170486
    • Ben Hamida, C., Soussi-Yanicostas, N., Butler-Browne, G.S., Bejaoui, K., Hentati, F., and Ben Hamida, M. 1994. Biochemical and immunocytochemical analysis in chronic proximal spinal muscular atrophy. Muscle Nerve, 17: 400-410. doi:10.1002/mus.880170407. PMID:8170486.
    • (1994) Muscle Nerve , vol.17 , pp. 400-410
    • Ben Hamida, C.1    Soussi-Yanicostas, N.2    Butler-Browne, G.S.3    Bejaoui, K.4    Hentati, F.5    Ben Hamida, M.6
  • 5
    • 0024356843 scopus 로고
    • The structure and function of alpha-actinin
    • PMID:2671039
    • Blanchard, A., Ohanian, V., and Critchley, D. 1989. The structure and function of alpha-actinin. J. Muscle Res. Cell Motil. 10: 280-289. doi:10.1007/BF01758424. PMID:2671039.
    • (1989) J. Muscle Res. Cell Motil , vol.10 , pp. 280-289
    • Blanchard, A.1    Ohanian, V.2    Critchley, D.3
  • 6
    • 67149090842 scopus 로고    scopus 로고
    • The human gene map for performance and health-related fitness phenotypes: The 2006-2007 update
    • PMID:19123262
    • Bray, M.S., Hagberg, J.M., Perusse, L., Rankinen, T., Roth, S.M., Wolfarth, B., and Bouchard, C. 2009. The human gene map for performance and health-related fitness phenotypes: the 2006-2007 update. Med. Sci. Sports Exerc. 41: 35-73. doi:10.1249/MSS.0b013e3181844179. PMID:19123262.
    • (2009) Med. Sci. Sports Exerc , vol.41 , pp. 35-73
    • Bray, M.S.1    Hagberg, J.M.2    Perusse, L.3    Rankinen, T.4    Roth, S.M.5    Wolfarth, B.6    Bouchard, C.7
  • 7
    • 78650429280 scopus 로고    scopus 로고
    • Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice
    • PMID:20886650
    • Chan, S., Seto, J.T., Houweling, P.J., Yang, N., North, K.N., and Head, S.I. 2011. Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice. Muscle Nerve, 43: 37-48. doi:10.1002/mus.21778. PMID:20886650.
    • (2011) Muscle Nerve , vol.43 , pp. 37-48
    • Chan, S.1    Seto, J.T.2    Houweling, P.J.3    Yang, N.4    North, K.N.5    Head, S.I.6
  • 8
    • 0033978677 scopus 로고    scopus 로고
    • Exercise, mobility and aging
    • PMID:10688279
    • Daley, M.J., and Spinks, W.L. 2000. Exercise, mobility and aging. Sports Med. 29: 1-12. doi:10.2165/00007256-200029010-00001. PMID:10688279.
    • (2000) Sports Med , vol.29 , pp. 1-12
    • Daley, M.J.1    Spinks, W.L.2
  • 10
    • 34249712362 scopus 로고    scopus 로고
    • Alpha-actinin-3 (ACTN3) R577X polymorphism influences knee extensor peak power response to strength training in older men and women
    • PMID:17339648
    • Delmonico, M.J., Kostek, M.C., Doldo, N.A., Hand, B.D., Walsh, S., Conway, J.M., et al. 2007. Alpha-actinin-3 (ACTN3) R577X polymorphism influences knee extensor peak power response to strength training in older men and women. J. Gerontol. A Biol. Sci. Med. Sci. 62: 206-212. doi:10.1093/gerona/62.2.206. PMID:17339648.
    • (2007) J. Gerontol. A Biol. Sci. Med. Sci , vol.62 , pp. 206-212
    • Delmonico, M.J.1    Kostek, M.C.2    Doldo, N.A.3    Hand, B.D.4    Walsh, S.5    Conway, J.M.6
  • 11
    • 57149115819 scopus 로고    scopus 로고
    • Health ABC and MrOS Research Groups. 2008. Association of the ACTN3 genotype and physical functioning with age in older adults
    • PMID: 19038838
    • Delmonico, M.J., Zmuda, J.M., Taylor, B.C., Cauley, J.A., Harris, T.B., Manini, T.M., et al; Health ABC and MrOS Research Groups. 2008. Association of the ACTN3 genotype and physical functioning with age in older adults. J. Gerontol. A Biol. Sci. Med. Sci. 63: 1227-1234. doi:10.1093/gerona/63.11.1227. PMID: 19038838.
    • J. Gerontol. A Biol. Sci. Med. Sci , vol.63 , pp. 1227-1234
    • Delmonico, M.J.1    Zmuda, J.M.2    Taylor, B.C.3    Cauley, J.A.4    Harris, T.B.5    Manini, T.M.6
  • 12
    • 84883216505 scopus 로고    scopus 로고
    • Genes for elite power and sprint performance: ACTN3 leads the way
    • PMID: 23681449
    • Eynon, N., Hanson, E.D., Lucia, A., Houweling, P.J., Garton, F., North, K.N., and Bishop, D.J. 2013. Genes for elite power and sprint performance: ACTN3 leads the way. Sports Med. 43: 803-817. doi:10.1007/s40279-013-0059-4. PMID: 23681449.
    • (2013) Sports Med , vol.43 , pp. 803-817
    • Eynon, N.1    Hanson, E.D.2    Lucia, A.3    Houweling, P.J.4    Garton, F.5    North, K.N.6    Bishop, D.J.7
  • 13
    • 84921272594 scopus 로고    scopus 로고
    • Alpha-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization
    • PMID:24234654
    • Garton, F.C., Seto, J.T., Quinlan, K.G., Yang, N., Houweling, P.J., and North, K.N. 2014. alpha-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization. Hum. Mol. Genet. 23: 1879-1893. doi:10.1093/hmg/ddt580. PMID:24234654.
    • (2014) Hum. Mol. Genet , vol.23 , pp. 1879-1893
    • Garton, F.C.1    Seto, J.T.2    Quinlan, K.G.3    Yang, N.4    Houweling, P.J.5    North, K.N.6
  • 15
    • 0033778580 scopus 로고    scopus 로고
    • Strength training in the elderly: Effects on risk factors for age-related diseases
    • PMID:11048773
    • Hurley, B.F., and Roth, S.M. 2000. Strength training in the elderly: effects on risk factors for age-related diseases. Sports Med. 30: 249-268. doi:10.2165/00007256-200030040-00002. PMID:11048773.
    • (2000) Sports Med , vol.30 , pp. 249-268
    • Hurley, B.F.1    Roth, S.M.2
  • 16
    • 79951609727 scopus 로고    scopus 로고
    • The functional ACTN3 577X variant increases the risk of falling in older females: Results from two large independent cohort studies
    • PMID:20966103
    • Judson, R.N., Wackerhage, H., Hughes, A., Mavroeidi, A., Barr, R.J., Macdonald, H.M., et al. 2011. The functional ACTN3 577X variant increases the risk of falling in older females: results from two large independent cohort studies. J. Gerontol. A Biol. Sci. Med. Sci. 66: 130-135. doi:10.1093/gerona/glq189. PMID:20966103.
    • (2011) J. Gerontol. A Biol. Sci. Med. Sci , vol.66 , pp. 130-135
    • Judson, R.N.1    Wackerhage, H.2    Hughes, A.3    Mavroeidi, A.4    Barr, R.J.5    Macdonald, H.M.6
  • 17
    • 84872576438 scopus 로고    scopus 로고
    • The ACTN3 XX genotype’s underrepresentation in Japanese elite wrestlers
    • PMID:22868563
    • Kikuchi, N., Ueda, D., Min, S.K., Nakazato, K., and Igawa, S. 2013. The ACTN3 XX genotype’s underrepresentation in Japanese elite wrestlers. Int. J. Sports Physiol. Perform. 8: 57-61. PMID:22868563.
    • (2013) Int. J. Sports Physiol. Perform , vol.8 , pp. 57-61
    • Kikuchi, N.1    Ueda, D.2    Min, S.K.3    Nakazato, K.4    Igawa, S.5
  • 18
    • 84905979499 scopus 로고    scopus 로고
    • The ACTN3 R577X polymorphism is associated with muscle power in male Japanese athletes
    • PMID:24343324
    • Kikuchi, N., Nakazato, K., Min, S.K., Ueda, D., and Igawa, S. 2014. The ACTN3 R577X polymorphism is associated with muscle power in male Japanese athletes. J. Strength Cond. Res. 28: 1783-1789. doi:10.1519/JSC.0000000000000338. PMID:24343324.
    • (2014) J. Strength Cond. Res , vol.28 , pp. 1783-1789
    • Kikuchi, N.1    Nakazato, K.2    Min, S.K.3    Ueda, D.4    Igawa, S.5
  • 19
    • 0023856536 scopus 로고
    • What is the cause of the ageing atrophy? Total number, size and proportion of different fiber types studied in whole vastus lateralis muscle from 15-to 83-year-old men
    • PMID:3379447
    • Lexell, J., Taylor, C.C., and Sjostrom, M. 1988. What is the cause of the ageing atrophy? Total number, size and proportion of different fiber types studied in whole vastus lateralis muscle from 15-to 83-year-old men. J. Neurol. Sci. 84: 275-294. doi:10.1016/0022-510X(88)90132-3. PMID:3379447.
    • (1988) J. Neurol. Sci , vol.84 , pp. 275-294
    • Lexell, J.1    Taylor, C.C.2    Sjostrom, M.3
  • 20
    • 41849132836 scopus 로고    scopus 로고
    • An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance
    • PMID: 18178581
    • MacArthur, D.G., Seto, J.T., Chan, S., Quinlan, K.G., Raftery, J.M., Turner, N., et al. 2008. An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance. Hum. Mol. Genet. 17: 1076-1086. doi:10.1093/hmg/ddm380. PMID: 18178581.
    • (2008) Hum. Mol. Genet , vol.17 , pp. 1076-1086
    • Macarthur, D.G.1    Seto, J.T.2    Chan, S.3    Quinlan, K.G.4    Raftery, J.M.5    Turner, N.6
  • 21
    • 84892941646 scopus 로고    scopus 로고
    • ACTN3 R577X genotype is associated with sprinting in elite Japanese athletes
    • PMID: 23868678
    • Mikami, E., Fuku, N., Murakami, H., Tsuchie, H., Takahashi, H., Ohiwa, N., et al. 2014. ACTN3 R577X genotype is associated with sprinting in elite Japanese athletes. Int. J. Sports Med. 35: 172-177. doi:10.1055/s-0033-1347171. PMID: 23868678.
    • (2014) Int. J. Sports Med , vol.35 , pp. 172-177
    • Mikami, E.1    Fuku, N.2    Murakami, H.3    Tsuchie, H.4    Takahashi, H.5    Ohiwa, N.6
  • 22
    • 0035875090 scopus 로고    scopus 로고
    • Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: Implications for the evolution of functional redundancy
    • PMID:11440986
    • Mills, M., Yang, N., Weinberger, R., Vander Woude, D.L., Beggs, A.H., Easteal, S., and North, K. 2001. 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. 10: 1335-1346. doi:10.1093/hmg/10.13.1335. PMID:11440986.
    • (2001) Hum. Mol. Genet , vol.10 , pp. 1335-1346
    • Mills, M.1    Yang, N.2    Weinberger, R.3    Vander Woude, D.L.4    Beggs, A.H.5    Easteal, S.6    North, K.7
  • 23
    • 33845524821 scopus 로고    scopus 로고
    • Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks
    • PMID:17033684
    • Moran, C.N., Yang, N., Bailey, M.E., Tsiokanos, A., Jamurtas, A., MacArthur, D.G., et al. 2007. Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. Eur. J. Hum. Genet. 15: 88-93. doi:10.1038/sj.ejhg.5201724. PMID:17033684.
    • (2007) Eur. J. Hum. Genet , vol.15 , pp. 88-93
    • Moran, C.N.1    Yang, N.2    Bailey, M.E.3    Tsiokanos, A.4    Jamurtas, A.5    Macarthur, D.G.6
  • 24
    • 64349112961 scopus 로고    scopus 로고
    • Strength, power, fiber types, and mRNA expression in trained men and women with different ACTN3 R577X genotypes
    • PMID:19150855
    • Norman, B., Esbjornsson, M., Rundqvist, H., Osterlund, T., von Walden, F., and Tesch, P.A. 2009. Strength, power, fiber types, and mRNA expression in trained men and women with different ACTN3 R577X genotypes. J. Appl. Physiol. 106: 959-965. doi:10.1152/japplphysiol.91435.2008. PMID:19150855.
    • (2009) J. Appl. Physiol , vol.106 , pp. 959-965
    • Norman, B.1    Esbjornsson, M.2    Rundqvist, H.3    Osterlund, T.4    Von Walden, F.5    Tesch, P.A.6
  • 25
    • 49749087556 scopus 로고    scopus 로고
    • Why is alpha-actinin-3 deficiency so common in the general population? The evolution of athletic performance
    • PMID:18637739
    • North, K. 2008. Why is alpha-actinin-3 deficiency so common in the general population? The evolution of athletic performance. Twin Res. Hum. Genet. 11: 384-394. doi:10.1375/twin.11.4.384. PMID:18637739.
    • (2008) Twin Res. Hum. Genet , vol.11 , pp. 384-394
    • North, K.1
  • 26
    • 0034705270 scopus 로고    scopus 로고
    • Calcineurin signaling and muscle remodeling
    • PMID:10892739
    • Olson, E.N., and Williams, R.S. 2000. Calcineurin signaling and muscle remodeling. Cell, 101: 689-692. doi:10.1016/S0092-8674(00)80880-6. PMID:10892739.
    • (2000) Cell , vol.101 , pp. 689-692
    • Olson, E.N.1    Williams, R.S.2
  • 28
    • 84877718845 scopus 로고    scopus 로고
    • Genomics of elite sporting performance: what little we know and necessary advances
    • PMID:23632745
    • Pitsiladis, Y., Wang, G., Wolfarth, B., Scott, R., Fuku, N., Mikami, E., et al. 2013. Genomics of elite sporting performance: what little we know and necessary advances. Br. J. Sports Med. 47: 550-555. doi:10.1136/bjsports-2013-092400. PMID:23632745.
    • (2013) Br. J. Sports Med , vol.47 , pp. 550-555
    • Pitsiladis, Y.1    Wang, G.2    Wolfarth, B.3    Scott, R.4    Fuku, N.5    Mikami, E.6
  • 29
    • 33947217787 scopus 로고    scopus 로고
    • A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle
    • PMID:17353360
    • Rajendra, T.K., Gonsalvez, G.B., Walker, M.P., Shpargel, K.B., Salz, H.K., and Matera, A.G. 2007. A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle. J. Cell Biol. 176: 831-841. doi:10.1083/jcb.200610053. PMID:17353360.
    • (2007) J. Cell Biol , vol.176 , pp. 831-841
    • Rajendra, T.K.1    Gonsalvez, G.B.2    Walker, M.P.3    Shpargel, K.B.4    Salz, H.K.5    Matera, A.G.6
  • 30
    • 0026227698 scopus 로고
    • Genetic influences and grip strength norms in the NHLBI twin study males aged 59-69
    • PMID:1952800
    • Reed, T., Fabsitz, R.R., Selby, J.V., and Carmelli, D. 1991. Genetic influences and grip strength norms in the NHLBI twin study males aged 59-69. Ann. Hum. Biol. 18: 425-432. doi:10.1080/03014469100001722. PMID:1952800.
    • (1991) Ann. Hum. Biol , vol.18 , pp. 425-432
    • Reed, T.1    Fabsitz, R.R.2    Selby, J.V.3    Carmelli, D.4
  • 31
    • 84874845323 scopus 로고    scopus 로고
    • Development and validation of criterionreferenced clinically relevant fitness standards for maintaining physical independence in later years
    • PMID:22613940
    • Rikli, R.E., and Jones, C.J. 2013. Development and validation of criterionreferenced clinically relevant fitness standards for maintaining physical independence in later years. Gerontologist, 53: 255-267. doi:10.1093/geront/gns071. PMID:22613940.
    • (2013) Gerontologist , vol.53 , pp. 255-267
    • Rikli, R.E.1    Jones, C.J.2
  • 32
    • 79952704977 scopus 로고    scopus 로고
    • The effect of alpha-actinin-3 deficiency on muscle aging
    • PMID:21112313
    • Seto, J.T., Chan, S., Turner, N., MacArthur, D.G., Raftery, J.M., Berman, Y.D., et al. 2011. The effect of alpha-actinin-3 deficiency on muscle aging. Exp. Gerontol. 46: 292-302. doi:10.1016/j.exger.2010.11.006. PMID:21112313.
    • (2011) Exp. Gerontol , vol.46 , pp. 292-302
    • Seto, J.T.1    Chan, S.2    Turner, N.3    Macarthur, D.G.4    Raftery, J.M.5    Berman, Y.D.6
  • 33
    • 84885063954 scopus 로고    scopus 로고
    • ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling
    • PMID:24091322
    • Seto, J.T., Quinlan, K.G., Lek, M., Zheng, X.F., Garton, F., MacArthur, D.G., et al. 2013. ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling. J. Clin. Invest. 123: 4255-4263. doi:10.1172/JCI67691. PMID:24091322.
    • (2013) J. Clin. Invest , vol.123 , pp. 4255-4263
    • Seto, J.T.1    Quinlan, K.G.2    Lek, M.3    Zheng, X.F.4    Garton, F.5    Macarthur, D.G.6
  • 34
    • 35948935626 scopus 로고    scopus 로고
    • Functional fitness gain varies in older adults depending on exercise mode
    • PMID:17986913
    • Takeshima, N., Rogers, N.L., Rogers, M.E., Islam, M.M., Koizumi, D., and Lee, S. 2007. Functional fitness gain varies in older adults depending on exercise mode. Med. Sci. Sports Exerc. 39: 2036-2043. doi:10.1249/mss.0b013e31814844b7. PMID:17986913.
    • (2007) Med. Sci. Sports Exerc , vol.39 , pp. 2036-2043
    • Takeshima, N.1    Rogers, N.L.2    Rogers, M.E.3    Islam, M.M.4    Koizumi, D.5    Lee, S.6
  • 36
    • 57349140006 scopus 로고    scopus 로고
    • ACTN3 genotype is associated with muscle phenotypes in women across the adult age span
    • PMID: 18756004
    • Walsh, S., Liu, D., Metter, E.J., Ferrucci, L., and Roth, S.M. 2008. ACTN3 genotype is associated with muscle phenotypes in women across the adult age span. J. Appl. Physiol. 105: 1486-1491. doi:10.1152/japplphysiol.90856.2008. PMID: 18756004.
    • (2008) J. Appl. Physiol , vol.105 , pp. 1486-1491
    • Walsh, S.1    Liu, D.2    Metter, E.J.3    Ferrucci, L.4    Roth, S.M.5
  • 38
    • 76349085215 scopus 로고    scopus 로고
    • ACTN3 polymorphism affects thigh muscle area
    • PMID:20222007
    • Zempo, H., Tanabe, K., Murakami, H., Iemitsu, M., Maeda, S., and Kuno, S. 2010. ACTN3 polymorphism affects thigh muscle area. Int. J. Sports Med. 31: 138-142. doi:10.1055/s-0029-1242808. PMID:20222007.
    • (2010) Int. J. Sports Med , vol.31 , pp. 138-142
    • Zempo, H.1    Tanabe, K.2    Murakami, H.3    Iemitsu, M.4    Maeda, S.5    Kuno, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.