Association of the ACTN3 Genotype and Physical Functioning with Age in Older Adults

Delmonico, Matthew J.; Zmuda, Joseph M.; Taylor, Brent C; Cauley, Jane A.; Harris, Tamara B.; Manini, Todd M.; Schwartz, Ann V.; Li, Rongling; Roth, Stephen M.; Hurley, Ben F.; Ferrell, Robert E.; Newman, Anne B.

doi:10.1249/01.mss.0000321639.38724.34

Cited by 14 publications

(21 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In a 5-year follow-up study, Delmonico et al (2008) found that XX men had higher increase in 400-m walk time compared with RR or RX men. In contrast, XX women had a greater risk of incident persistent lower extremity limitation compared to RR women.…”

Section: Longitudinal Genetic Association Studiesmentioning

confidence: 97%

Genes and the ageing muscle: a review on genetic association studies

Garatachea

Lucía

2011

AGE

View full text Add to dashboard Cite

Western populations are living longer. Ageing decline in muscle mass and strength (i.e. sarcopenia) is becoming a growing public health problem, as it contributes to the decreased capacity for independent living. It is thus important to determine those genetic factors that interact with ageing and thus modulate functional capacity and skeletal muscle phenotypes in older people. It would be also clinically relevant to identify 'unfavourable' genotypes associated with accelerated sarcopenia. In this review, we summarized published information on the potential associations between some genetic polymorphisms and muscle phenotypes in older people. A special emphasis was placed on those candidate polymorphisms that have been more extensively studied, i.e. angiotensinconverting enzyme (ACE) gene I/D, α-actinin-3 (ACTN3) R577X, and myostatin (MSTN) K153R, among others. Although previous heritability studies have indicated that there is an important genetic contribution to individual variability in muscle phenotypes among old people, published data on specific gene variants are controversial. The ACTN3 R577X polymorphism could influence muscle function in old women, yet there is controversy with regards to which allele (R or X) might play a 'favourable' role. Though more research is needed, up-to-date MSTN genotype is possibly the strongest candidate to explain variance among muscle phenotypes in the elderly. Future studies should take into account the association between muscle phenotypes in this population and complex gene-gene and gene-environment interactions.

show abstract

Section: Longitudinal Genetic Association Studiesmentioning

confidence: 97%

Genes and the ageing muscle: a review on genetic association studies

Garatachea

Lucía

2011

AGE

View full text Add to dashboard Cite

show abstract

“…They were also unable to confirm the difference in fiber-type proportion reported by Vincent and colleagues. Interestingly, in a longitudinal study of 1367 older adults (70 -79 years), Delmonico et al 82 reported greater losses of 400 m walk time performance over 5 years in male X / X vs R-allele carriers, whereas X / X women had a 35 % greater risk of lower extremity physical limitation compared with R / R women. Judson et al 83 recently reported great risk of falling in older females carrying at least one X allele.…”

Section: Alpha Actinin 3 ( Actn3 )mentioning

confidence: 99%

“…Judson et al 83 recently reported great risk of falling in older females carrying at least one X allele. The general consensus among these studies is that ACTN3 X / X carriers have modestly lower skeletal muscle strength and power in comparison with R-allele carriers, with the work of Delmonico et al 82 and most recently Judson et al 83 indicating potential clinical importance for the X / X genotype in older men and women.…”

Section: Alpha Actinin 3 ( Actn3 )mentioning

confidence: 99%

See 1 more Smart Citation

Genetic aspects of skeletal muscle strength and mass with relevance to sarcopenia

Roth¹

2012

BoneKEy Reports

View full text Add to dashboard Cite

Skeletal muscle is a highly heritable quantitative trait, with heritability estimates ranging 30 -85 % for muscle strength and 50 -80 % for lean mass. That strong genetic contribution indicates the possibility of using genetic information to individualize treatments for sarcopenia or even aid in prevention strategies through the use of genetic screening prior to the functional limitations. Though these possibilities provide the rationale for genetic studies of skeletal muscle traits, few genes have been identified that appear to contribute to variation in either skeletal muscle strength or mass phenotypes, and sarcopenia per se is remarkably understudied as a trait in this regard. This review examines the heritability of skeletal muscle traits, findings of linkage and genome-wide association analyses and impact of specific genes and gene-sequence variants on these traits as relevant to sarcopenia. Despite considerable work in the area, the genetic underpinnings of skeletal muscle traits remain largely unknown and the genetic aspects of sarcopenia are even less clear. Large-scale longitudinal clinical studies relying on advanced genome-wide association and other techniques are needed to provide further insights into the genes and gene variants that contribute to skeletal muscle strength and mass, and ultimately to susceptibility to sarcopenia.

show abstract

“…Approximately 20% of the world population, and 18% of the European population, harbour the ACTN3 577XX genotype and consequently are completely deficient in ␣-actinin-3. 3 The ACTN3 R577X polymorphism has been investigated in the context of human athletic performance, in both elite endurance and power athletes, [4][5][6] and the general population, [7][8][9] with the overall conclusion that ␣-actinin-3 deficiency, as marked by the 577XX genotype, is detrimental to power performance and possibly beneficial to endurance performance. Recently, we have shown, in a large group of elite European athletes (n = 633), that 'worldclass' endurance athletes were 3.7 times more likely to harbour the 577XX genotype than national-level counterparts, and that elite power athletes were ∼50% less likely to harbour the 577XX genotype compared to sedentary controls.…”

Section: Introductionmentioning

confidence: 99%

ACTN3 R577X polymorphism and team-sport performance: A study involving three European cohorts

Eynon

Banting

Ruiz

et al. 2014

Journal of Science and Medicine in Sport

View full text Add to dashboard Cite

a b s t r a c tObjectives: To determine the association between the ␣-actinin-3 (ACTN3) R577X polymorphism and elite team-sport athletic status in three cohorts of European team-sport athletes. Design: We compared the genotype and allele frequencies of the ACTN3 R577X (rs1815739) polymorphisms between team-sport athletes (n = 205), endurance athletes (n = 305), sprint/power athletes (n = 378), and non-athletic controls (n = 568) from Poland, Russia and Spain; all participants were unrelated European men. Methods: Genomic DNA was extracted from either buccal epithelium or peripheral blood using a standard protocol. Genotyping was performed using several methods, and the results were replicated following recent recommendations for genotype-phenotype association studies. Results: Genotype distributions of all control and athletic groups met Hardy-Weinberg equilibrium (all p > 0.05). Team-sport athletes were less likely to have the 577RR genotype compared to the 577XX genotype than sprint/power athletes [odds ratio: 0.58, 95% confidence interval: 0.34-0.39, p = 0.045]. However, the ACTN3 R577X polymorphism was not associated with team-sports athletic status, compared to endurance athletes and non-athletic controls. Furthermore, no association was observed for any of the genotypes with respect to the level of competition (elite vs. national level). Conclusions: The ACTN3 R577X polymorphism was not associated with team-sport athletic status, compared to endurance athletes and non-athletic controls, and the observation that the 577RR genotype is overrepresented in power/sprint athletes compared with team-sport athletes needs to be confirmed in future studies.

show abstract

Association of the ACTN3 Genotype and Physical Functioning with Age in Older Adults

Cited by 14 publications

References 31 publications

Genes and the ageing muscle: a review on genetic association studies

Genes and the ageing muscle: a review on genetic association studies

Genetic aspects of skeletal muscle strength and mass with relevance to sarcopenia

ACTN3 R577X polymorphism and team-sport performance: A study involving three European cohorts

Contact Info

Product

Resources

About