ACTN3 Gene and Susceptibility to Sarcopenia and Osteoporotic Status in Older Korean Adults

Cho, Jinkyung; Lee, Inhwan; Kang, Hyunah

doi:10.1155/2017/4239648

Cited by 28 publications

(33 citation statements)

References 43 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Interestingly, in a secondary analysis comparing a middle age group with an old age group, XX homozygosity was only associated with low thigh muscle CSA in the old age group (p < 0.05), suggesting that the influence of ACTN3 deficiency is heightened with age [78]. Similar results were noted in 2017 by Cho et al [32], where sarcopenia prevalence was significantly associated with the XX genotype (p = 0.038). In contrast, Lima et al [54] found X allele carriers to have significantly more relative total FFM than RR homozygotes (p = 0.04).…”

Section: Actn3 (The Sprint Gene)supporting

confidence: 71%

“…This was particularly evident among the Asian population. All five cross-sectional studies that examined Asian participants found significant associations between X allele status and muscle phenotypes [32,48,58,77]. No such association was found in the other three cross-sectional studies that targeted Caucasian individuals [30,39,59], therefore suggesting ethnicity may determine the degree to which ACTN3 genotypes effect aging muscle.…”

Section: Actn3 (The Sprint Gene)mentioning

confidence: 94%

See 1 more Smart Citation

Genetic Associations with Aging Muscle: A Systematic Review

Pratt

Boreham

Ennis

et al. 2019

Cells

View full text Add to dashboard Cite

show abstract

Section: Actn3 (The Sprint Gene)supporting

confidence: 71%

Section: Actn3 (The Sprint Gene)mentioning

confidence: 94%

Genetic Associations with Aging Muscle: A Systematic Review

Pratt

Boreham

Ennis

et al. 2019

Cells

View full text Add to dashboard Cite

show abstract

“…The ACTN3 R577X polymorphism has been linked to trainability of various cardiovascular traits [7,19] which could, in turn, influence PA behavior [4]. Furthermore, the polymorphism has been associated with traits like sarcopenia [59], muscle function [51] and strength [60]. Previous research indicates that these may be important correlates of PA phenotypes [61][62][63][64].…”

Section: Discussionmentioning

confidence: 99%

Distribution of allele frequencies for genes associated with physical activity and/or physical capacity in a homogenous Norwegian cohort- a cross-sectional study

et al. 2020

View full text Add to dashboard Cite

Background: There are large individual differences in physical activity (PA) behavior as well as trainability of physical capacity. Heritability studies have shown that genes may have as much impact on exercise participation behavior as environmental factors. Genes that favor both trainability and participation may increase the levels of PA. The present study aimed to assess the allele frequencies in genes associated with PA and/or physical capacity, and to see if there is any association between these polymorphisms and self-reported PA levels in a cohort of middleaged Norwegians of Scandinavian descent (n = 831; mean age mean age (± SD) 55.5 ± 3.8 years). Results: The genotype distributions of the ACTN3 R577X, ACE I/D and MAOA uVNTR polymorphisms were similar to other populations of European descent. When comparing the genotype distribution between the low/medium level PA group (LMPA) and high level PA groups (HPA), a significant difference in ACTN3 577X allele distribution was found. The X allele frequency was 10% lower in the HPA level group (P = 0.006). There were no differences in the genotype distribution of the ACE I/D or MAOA uVNTR polymorphism. Education and previous participation in sports or outdoor activities was positively associated with the self-reported PA levels (P ≤ 0.001). Conclusions: To the best of our knowledge, this is the first study to report association between ACTN3 R577X genotype and PA level in middle-aged Scandinavians. Nevertheless, the contribution of a single polymorphism to a complex trait, like PA level, is likely small. Socioeconomic variables, as education and previous participation in sports or outdoor activities, are positively associated with the self-reported PA levels.

show abstract

“…It is thus possible that individuals carrying favourable gene variants are less susceptible to sarcopenia and hence can maintain independence until later life. To date, five studies have investigated the association of SNPs with sarcopenia; limited to VDR, IL6, ACTN3 and MSTN polymorphisms [19][20][21][22][23] . The studies identified an association of ACTN3 and VDR gene variants with sarcopenia, but did not find any association with IL6 and MSTN variants.…”

mentioning

confidence: 99%

“…The studies identified an association of ACTN3 and VDR gene variants with sarcopenia, but did not find any association with IL6 and MSTN variants. Unlike the previous studies that used low appendicular skeletal muscle mass as the cut-off for sarcopenia 19,20,22 , the later studies used both low muscle mass and muscle function to define sarcopenia 21,23 .…”

mentioning

confidence: 99%

Prevalence and association of single nucleotide polymorphisms with sarcopenia in older women depends on definition

Khanal

Stebbings

et al. 2020

Sci Rep

View full text Add to dashboard Cite

The prevalence of sarcopenia depends on the definition used. There are, however, consistent sarcopenic characteristics, including a low muscle mass and muscle strength. Few studies have investigated the relationship between sarcopenia and genotype. A cross-sectional study was conducted with 307 community-dwelling ≥60-year-old women in South Cheshire, UK. Handgrip strength was assessed with a handgrip dynamometer and skeletal muscle mass was estimated using bioelectrical impedance. DNA was extracted from saliva (∼38%) or blood (∼62%) and 24 single-nucleotide polymorphisms (SNPs) were genotyped. Three established sarcopenia definitions -%Skeletal Muscle Mass (%SMM), Skeletal Muscle Mass Index (SMI) and European Working Group on Sarcopenia in Older People (EWGSOP) -were used to assess sarcopenia prevalence. Binary logistic regression with age as covariate was used to identify SNPs associated with sarcopenia. The prevalence of sarcopenia was: %SMM 14.7%, SMI 60.6% and EWGSOP 1.3%. Four SNPs were associated with the %SMM and SMI definitions of sarcopenia; FTO rs9939609, ESR1 rs4870044, NOS3 rs1799983 and TRHR rs7832552. The first three were associated with the %SMM definition, and TRHR rs7832552 with the SMI definition, but none were common to both sarcopenia definitions. The gene variants associated with sarcopenia may help proper counselling and interventions to prevent individuals from developing sarcopenia.Sarcopenia is defined as an ageing-related loss of both muscle mass and strength below a threshold level 1 . It is an important predictor of adverse outcomes such as limited mobility, increased risk of falls, decreased quality of life (QoL), hospitalization and mortality, and contributes to tens of millions of pounds of health care costs in the UK 1-3 . Although muscle weakness and skeletal muscle atrophy are overt characteristics of this geriatric syndrome, there is ongoing debate on the operational definition, screening and diagnosis, and optimal management and treatment of the condition 1,4-6 . The considerable heterogeneity in the reported prevalence of sarcopenia is largely attributable to the different definitions or cut-offs used 7-9 .The fact that some elderly do not show sarcopenia, whilst others of the same age do 10,11 , suggests that some individuals are more susceptible to sarcopenia than others. The different susceptibility is likely due to a combination of factors including physical activity, diet, sedentary behaviour and genetics [12][13][14][15] . Several studies have reported an association of single nucleotide polymorphisms (SNPs) with lean mass, muscle volume and muscle strength [16][17][18] . It is thus possible that individuals carrying favourable gene variants are less susceptible to sarcopenia and hence can maintain independence until later life. To date, five studies have investigated the association of SNPs with sarcopenia; limited to VDR, IL6, ACTN3 and MSTN polymorphisms [19][20][21][22][23] . The studies identified an association of ACTN3 and VDR gene variants with sarcopenia, but di...

show abstract

ACTN3 Gene and Susceptibility to Sarcopenia and Osteoporotic Status in Older Korean Adults

Cited by 28 publications

References 43 publications

Genetic Associations with Aging Muscle: A Systematic Review

Genetic Associations with Aging Muscle: A Systematic Review

Distribution of allele frequencies for genes associated with physical activity and/or physical capacity in a homogenous Norwegian cohort- a cross-sectional study

Prevalence and association of single nucleotide polymorphisms with sarcopenia in older women depends on definition

Contact Info

Product

Resources

About