ACTN3 R577X polymorphism related to sarcopenia and physical fitness in active older women

Romero‐Blanco, Cristina; González, María Jesús Artiga; Gómez-Cabello, Alba; Vila-Maldonado, Sara; Ara, I.; Aznar, Susana

doi:10.1080/13697137.2020.1776248

Cited by 13 publications

(9 citation statements)

References 30 publications

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“…Few studies have attempted to identify the genes associated with sarcopenia [38,[67][68][69]. It should be noted that the SNPs showing associations in the present study (ACTN3 rs1815739, MTHFR rs1801131, and MTHFR rs1537516) are different from our previous study that identified associations of FTO, TRHR, ESR1, and NOS3 gene variants with sarcopenia [38].…”

Section: Discussioncontrasting

confidence: 95%

Sarcopenia, Obesity, and Sarcopenic Obesity: Relationship with Skeletal Muscle Phenotypes and Single Nucleotide Polymorphisms

Khanal

Williams

et al. 2021

JCM

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Obesity may aggravate the effects of sarcopenia on skeletal muscle structure and function in the elderly, but no study has attempted to identify the gene variants associated with sarcopenia in obese women. Therefore, the aims of the present study were to: (1) describe neuromuscular function in sarcopenic and non-sarcopenic women with or without obesity; (2) identify gene variants associated with sarcopenia in older obese women. In 307 Caucasian women (71 ± 6 years, 66.3 ± 11.3 kg), skeletal muscle mass was estimated using bioelectric impedance, and function was tested with a 30 s one-leg standing-balance test. Biceps brachii thickness and vastus lateralis cross-sectional area (VLACSA) were measured with B-mode ultrasonography. Handgrip strength, maximum voluntary contraction elbow flexion (MVCEF), and knee extension torque (MVCKE) were measured by dynamometry, and MVCKE/VLACSA was calculated. Genotyping was performed for 24 single-nucleotide polymorphisms (SNPs), selected based on their previous associations with muscle-related phenotypes. Based on sarcopenia and obesity thresholds, groups were classified as sarcopenic obese, non-sarcopenic obese, sarcopenic non-obese, or non-sarcopenic non-obese. A two-way analysis of covariance was used to assess the main effects of sarcopenia and obesity on muscle-related phenotypes and binary logistic regression was performed for each SNP to investigate associations with sarcopenia in obesity. There were no significant obesity * sarcopenic status interactions for any of the investigated muscle-related phenotypic parameters. Neither sarcopenia nor obesity had a significant effect on biceps brachii thickness, but sarcopenia was associated with lower VLACSA (p = 0.003). Obesity was associated with lower MVCEF (p = 0.032), MVCKE (p = 0.047), and MVCKE/VLACSA (p = 0.012) with no significant effect of sarcopenia. Adjusted for age and height, three SNPs (ACTN3 rs1815739, MTHFR rs1801131, and MTHFR rs1537516) were associated with sarcopenia in obese participants. Sarcopenia was associated with a smaller muscle size, while obesity resulted in a lower muscle quality irrespective of sarcopenia. Three gene variants (ACTN3 rs1815739, MTHFR rs1801131, and MTHFR rs1537516) suspected to affect muscle function, homocysteine metabolism, or DNA methylation, respectively, were associated with sarcopenia in obese elderly women. Understanding the skeletal muscle features affected by sarcopenia and obesity, and identification of genes related to sarcopenia in obese women, may facilitate early detection of individuals at particular risk of sarcopenic obesity.

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Section: Discussioncontrasting

confidence: 95%

Sarcopenia, Obesity, and Sarcopenic Obesity: Relationship with Skeletal Muscle Phenotypes and Single Nucleotide Polymorphisms

Khanal

Williams

et al. 2021

JCM

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“…Some studies [14,44] have shown an association between the ACTN3 genotype and sarcopenia-related declines in muscle phenotypes in older adults. Outcomes from a recent study suggest that active women aged 75 and above carrying the R allele might have a higher risk for sarcopenia in comparison to the XX carriers [17], which somehow fits to the tendencies observed in our study. However, it is very likely that various genotypes would interact in modulating muscle-related phenotypes.…”

Section: Discussionsupporting

confidence: 91%

“…Thereby, several studies go in line with the physiological expectations and show an increased muscle mass [18,20], strength [14,16,23], power [22], or physical performance [22] in individuals carrying the R allele. However, these results are contrasted by studies revealing better results for XX individuals [17,21], studies with mixed results for different parameters [13] or with respect to trainability [16,19].…”

Section: Introductionmentioning

confidence: 77%

“…A common null polymorphism of ACTN3 (R577X-rs1815739) is responsible for the fact that individuals homozygous for the X allele are unable to express α-actinin-3 in contrast to those with the RX or RR genotype [11]. Despite the growing body of evidence suggesting the potential modifying effect of ACTN3 genotypes [12] on muscle strength [13][14][15][16][17], mass [13,[18][19][20], power [13,21], and functional performance [17,[22][23][24] in older populations, inconsistency exists amongst studies [7,19,[25][26][27][28]. Thereby, several studies go in line with the physiological expectations and show an increased muscle mass [18,20], strength [14,16,23], power [22], or physical performance [22] in individuals carrying the R allele.…”

Section: Introductionmentioning

confidence: 99%

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ACTN3 Genotypes and Their Relationship with Muscle Mass and Function of Kosovan Adults

Boshnjaku

Krasniqi

Tschan

et al. 2021

IJERPH

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Maintaining muscle mass and function is important throughout the lifestyle. While environmental factors such as physical activity and healthy nutrition are well investigated, the contribution of genetic factors is still controversial. Therefore, we aimed to investigate the impact of a common ACTN3 polymorphism (rs1815739) on body composition, handgrip strength, knee extensor peak torque, and physical performance (gait speed, 30-s arm curl, 30-s chair stand) in Kosovan adults. In total, 308 participants (160 females and 148 males, age range from 40 to 91 years) took part in this cross-sectional study. Genomic DNA was extracted from saliva and assessed for ACTN3 genotype distribution (41.5% of RR, 53.9% of RX and 4.6% of XX). Genotype allocation did not account for differences in any of the variables. Interestingly, female XX carriers were taller (p = 0.025) and had a higher isokinetic knee extension peak torque (p = 0.024) than the RX+RR group. In males, XX carriers were also taller (p = 0.049) and had a lower BMI (p = 0.026), but did not differ in any of the strength and performance parameters. These results indicate that the ACTN3 R577X polymorphism might exert a sex-specific impact on knee extensor peak torque and BMI.

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“…Despite equivocal single-SNP associations being reported [10,17,26,27], there have been no investigations of multiple in vivo skeletal muscle size and strength measures in elderly women for associations with multiple gene variants. Therefore, the present study investigated the association of a selection of 24 SNPs with skeletal muscle phenotypes, specifically muscle size (biceps brachii thickness and vastus lateralis anatomical cross sectional area (VL ACSA )) and muscle strength (handgrip strength (HGS), isometric elbow flexion torque (MVC EF ) and isometric knee extension torque (MVC KE )) measures, in elderly Caucasian women.…”

Section: Introductionmentioning

confidence: 99%

The Association of Multiple Gene Variants with Ageing Skeletal Muscle Phenotypes in Elderly Women

Khanal

Herbert

et al. 2020

Genes

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There is a scarcity of studies that have investigated the role of multiple single nucleotide polymorphisms (SNPs) on a range of muscle phenotypes in an elderly population. The present study investigated the possible association of 24 SNPs with skeletal muscle phenotypes in 307 elderly Caucasian women (aged 60–91 years, 66.3 ± 11.3 kg). Skeletal muscle phenotypes included biceps brachii thickness, vastus lateralis cross-sectional areas, maximal hand grip strength, isometric knee extension and elbow flexion torque. Genotyping for 24 SNPs, chosen on their skeletal muscle structural or functional links, was conducted on DNA extracted from blood or saliva. Of the 24 SNPs, 10 were associated with at least one skeletal muscle phenotype. HIF1A rs11549465 was associated with three skeletal muscle phenotypes and PTK2 rs7460 and ACVR1B rs10783485 were each associated with two phenotypes. PTK2 rs7843014, COL1A1 rs1800012, CNTF rs1800169, NOS3 rs1799983, MSTN rs1805086, TRHR rs7832552 and FTO rs9939609 were each associated with one. Elderly women possessing favourable genotypes were 3.6–13.2% stronger and had 4.6–14.7% larger muscle than those with less favourable genotypes. These associations, together with future work involving a broader range of SNPs, may help identify individuals at particular risk of an age-associated loss of independence.

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ACTN3 R577X polymorphism related to sarcopenia and physical fitness in active older women

Cited by 13 publications

References 30 publications

Sarcopenia, Obesity, and Sarcopenic Obesity: Relationship with Skeletal Muscle Phenotypes and Single Nucleotide Polymorphisms

Sarcopenia, Obesity, and Sarcopenic Obesity: Relationship with Skeletal Muscle Phenotypes and Single Nucleotide Polymorphisms

ACTN3 Genotypes and Their Relationship with Muscle Mass and Function of Kosovan Adults

The Association of Multiple Gene Variants with Ageing Skeletal Muscle Phenotypes in Elderly Women

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