The ACTN3 R577X polymorphism is associated with inflammatory myopathies in a Mexican population

References

• Bohan A, Peter JB. Polymyositis and dermatomyositis (first of two parts). N Engl J Med 1975;292:344–7.
   PubMed Web of Science ®Google Scholar
• Bohan A, Peter JB. Polymyositis and dermatomyositis (second of two parts). N Engl J Med 1975;292:403–7.
   PubMed Web of Science ®Google Scholar
• Briani C, Doria A, Sarzi-Puttini P, Dalakas MC. Update on idiopathic inflammatory myopathies. Autoimmunity 2006;39: 161–70.
   PubMed Web of Science ®Google Scholar
• Weitoft T. Occurrence of polymyositis in the county of Gavleborg, Sweden. Scand J Rheumatol 1997;26:104–6.
   PubMed Web of Science ®Google Scholar
• Oddis CV, Conte CG, Steen VD, Medsger TA Jr. Incidence of polymyositis–dermatomyositis: a 20-year study of hospital diagnosed cases in Allegheny County, PA 1963–1982. J Rheumatol 1990;17:1329–34.
   PubMed Web of Science ®Google Scholar
• Shamim EA, Rider LG, Pandey JP, O’Hanlon TP, Jara LJ, Samayoa EA, . Differences in idiopathic inflammatory myopathy phenotypes and genotypes between Mesoamerican Mestizos and North American Caucasians: ethnogeographic influences in the genetics and clinical expression of myositis. Arthritis Rheum 2002;46:1885–93.
   PubMedGoogle Scholar
• Dixson JD, Forstner MJ, Garcia DM. The alpha-actinin gene family: a revised classification. J Mol Evol 2003;56:1–10.
   PubMedGoogle Scholar
• Holterhoff CK, Saunders RH, Brito EE, Wagner DS. Sequence and expression of the zebrafish alpha-actinin gene family reveals conservation and diversification among vertebrates. Dev Dyn 2009;238:2936–47.
   PubMedGoogle Scholar
• North KN, Yang N, Wattanasirichaigoon D, Mills M, Easteal S, Beggs AH. A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. Nat Genet 1999;21:353–4.
   PubMed Web of Science ®Google Scholar
• North KN, Beggs AH. Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy. Neuromuscul Disord 1996;6:229–35.
   PubMed Web of Science ®Google Scholar
• MacArthur DG, Seto JT, Raftery JM, Quinlan KG, Huttley GA, Hook JW, . Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. Nat Genet 2007;39:1261–5.
   PubMed Web of Science ®Google Scholar
• Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, . ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet 2003;73:627–31.
   PubMed Web of Science ®Google Scholar
• Moran CN, Yang N, Bailey ME, Tsiokanos A, Jamurtas A, MacArthur DG, . Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. Eur J Hum Genet 2007;15:88–93.
   PubMed Web of Science ®Google Scholar
• Lek M, Quinlan KG, North KN. The evolution of skeletal muscle performance: gene duplication and divergence of human sarcomeric alpha-actinins. Bioessays 2010;32:17–25.
   PubMed Web of Science ®Google Scholar
• Clarkson PM, Devaney JM, Gordish-Dressman H, Thompson PD, Hubal MJ, Urso M, . ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women. J Appl Physiol 2005;99:154–63.
   PubMed Web of Science ®Google Scholar
• Clarkson PM, Hoffman EP, Zambraski E, Gordish-Dressman H, Kearns A, Hubal M, . ACTN3 and MLCK genotype associations with exertional muscle damage. J Appl Physiol 2005;99: 564–9.
   PubMed Web of Science ®Google Scholar
• Yang N, MacArthur DG, Wolde B, Onywera VO, Boit MK, Lau SY, . The ACTN3 R577X polymorphism in East and West African athletes. Med Sci Sports Exerc 2007;39:1985–8.
   PubMed Web of Science ®Google Scholar
• MacArthur DG, North KN. ACTN3: a genetic influence on muscle function and athletic performance. Exerc Sport Sci Rev 2007;35: 30–4.
   PubMed Web of Science ®Google Scholar
• Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
   PubMed Web of Science ®Google Scholar
• MacArthur DG, Seto JT, Chan S, Quinlan KG, Raftery JM, Turner N, . An ACTN3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance. Hum Mol Genet 2008;17:1076–86.
   PubMed Web of Science ®Google Scholar
• Delmonico MJ, Zmuda JM, Taylor BC, Cauley JA, Harris TB, Manini TM, . Association of the ACTN3 genotype and physical functioning with age in older adults. J Gerontol A Biol Sci Med Sci 2008;63:1227–34.
   PubMedGoogle Scholar
• Seto JT, Chan S, Turner N, MacArthur DG, Raftery JM, Berman YD, . The effect of alpha-actinin-3 deficiency on muscle aging. Exp Gerontol 2011;46:292–302.
   PubMedGoogle Scholar
• Seto JT, Lek M, Quinlan KG, Houweling PJ, Zheng XF, Garton F, . Deficiency of alpha-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling. Hum Mol Genet 2011;20: 2914–27.
   PubMed Web of Science ®Google Scholar