Association Between rs1815739 Polymorphism of ACTN3 Gene and Athletic Ability in Chinese Sprinters

Chen, Wenjia; Zhang, Biyu; Li, Yanchun; Liang, Tseching

doi:10.1007/s42978-020-00058-1

Cited by 5 publications

(3 citation statements)

References 20 publications

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“…ACTN3 rs1815739 has been widely studied with skeletal muscle phenotypes in different populations, with varying results [71]. Although the ACTN3 R allele mostly favors better athletic (sprint) performance [72] and higher muscle mass and strength phenotypes [73], there are also studies that have reported the X allele as beneficial for fat-free mass in older people or peak power in non-athletic populations [74,75]. The putative effect of ACTN3 genotype has also shown different results at baseline and post training.…”

Section: Discussionmentioning

confidence: 99%

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: Discussionmentioning

confidence: 99%

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

Khanal

Williams

et al. 2021

JCM

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“…The following supporting information can be downloaded at . Table S1: Previous associations of single nucleotide polymorphisms with body composition/muscle-related phenotypes/performance (references [ 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 , 71 , 72 , 73 , 74 , 75 , 76 , 77 , 78 , 79 , 80 , 81 , 82 , 83 , 84 ] are cited in Supplementary Materials).…”

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confidence: 99%

Polygenic Models Partially Predict Muscle Size and Strength but Not Low Muscle Mass in Older Women

Khanal

Morse

et al. 2022

Genes

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Background: Heritability explains 45-82% of muscle mass and strength variation, yet polygenic models for muscle phenotypes in older women are scarce. Therefore, the objective of the present study was to (1) assess if total genotype predisposition score (GPSTOTAL) for a set of polymorphisms differed between older women with low and high muscle mass, and (2) utilise a data-driven GPS (GPSDD) to predict the variance in muscle size and strength-related phenotypes. Methods: In three-hundred 60- to 91-year-old Caucasian women (70.7 ± 5.7 years), skeletal muscle mass, biceps brachii thickness, vastus lateralis anatomical cross-sectional area (VLACSA), hand grip strength (HGS), and elbow flexion (MVCEF) and knee extension (MVCKE) maximum voluntary contraction were measured. Participants were classified as having low muscle mass if the skeletal muscle index (SMI) < 6.76 kg/m2 or relative skeletal muscle mass (%SMMr) < 22.1%. Genotyping was completed for 24 single-nucleotide polymorphisms (SNPs). GPSTOTAL was calculated from 23 SNPs and compared between the low and high muscle mass groups. A GPSDD was performed to identify the association of SNPs with other skeletal muscle phenotypes. Results: There was no significant difference in GPSTOTAL between low and high muscle mass groups, irrespective of classification based on SMI or %SMMr. The GPSDD model, using 23 selected SNPs, revealed that 13 SNPs were associated with at least one skeletal muscle phenotype: HIF1A rs11549465 was associated with four phenotypes and, in descending number of phenotype associations, ACE rs4341 with three; PTK2 rs7460 and CNTFR rs2070802 with two; and MTHFR rs17421511, ACVR1B rs10783485, CNTF rs1800169, MTHFR rs1801131, MTHFR rs1537516, TRHR rs7832552, MSTN rs1805086, COL1A1 rs1800012, and FTO rs9939609 with one phenotype. The GPSDD with age included as a predictor variable explained 1.7% variance of biceps brachii thickness, 12.5% of VLACSA, 19.0% of HGS, 8.2% of MVCEF, and 9.6% of MVCKE. Conclusions: In older women, GPSTOTAL did not differ between low and high muscle mass groups. However, GPSDD was associated with muscle size and strength phenotypes. Further advancement of polygenic models to understand skeletal muscle function during ageing might become useful in targeting interventions towards older adults most likely to lose physical independence.

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“…These findings suggested that having at least 1 R allele (RR and RX genotypes) are likely common in athletes who engage in sprint-/power-type sports. Subsequently, several studies reported associations between the ACTN3 R577X polymorphism and muscle power, [ 9 ] sprint-/power-type sports performance, [ 10 , 11 ] muscle metabolism, [ 12 , 13 ] and muscle fiber composition. [ 14 ] These studies suggested that having at least 1 R allele is associated with high muscular strength.…”

Section: Introductionmentioning

confidence: 99%

Relationship of muscle power and bone mineral density with the α-actinin-3 R577X polymorphism in Japanese female athletes from different sport types: An observational study

2022

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The aim of this study was to clarify the relationships between muscle power and bone mineral density (BMD) and the α-actinin-3 (ACTN3) R577X polymorphism in Japanese female collegiate athletes participating in sports with various mechanical-load characteristics. This study included 260 female collegiate athletes involved in 10 competitive sports and 26 controls (mean ages, 19.2 ± 1.2 and 19.7 ± 1.3 years, respectively). The sports were classified into 3 categories (low-impact, multidirectional, and high-impact) based on the exercise load characteristics. Data on sports participation and competition experience were obtained through a questionnaire-type survey. The maximum anaerobic power (MAnP) test was performed to measure muscle power. The total body BMD was measured using dual-energy X-ray absorptiometry. The ACTN3 R577X polymorphism (rs1815739) was analyzed using a TaqMan® assay. The multidirectional sports participants with the RR genotype of the ACTN3 R577X polymorphism had a higher BMD than those with the RX and RX + XX genotypes (P = .018 and P = .003, respectively). The RR genotype was also associated with a higher MAnP than those with the RX + XX genotypes (P = .035). No other variables related to BMD and MAnP were significantly different. Our results suggests that the RR genotype may confer high trainability for BMD and muscle power in Japanese female collegiate athletes participating in multidirectional sport types. However, these associations were not found in the athletes participating in the low-and high-impact sport types.Abbreviations: ACTN3 = α-actinin-3, BMD = bone mineral density, BMI = body mass index, DEXA = dual-energy X-ray absorptiometry, MAnP = maximum anaerobic power, PCR = polymerase chain reaction.

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Association Between rs1815739 Polymorphism of ACTN3 Gene and Athletic Ability in Chinese Sprinters

Cited by 5 publications

References 20 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

Polygenic Models Partially Predict Muscle Size and Strength but Not Low Muscle Mass in Older Women

Relationship of muscle power and bone mineral density with the α-actinin-3 R577X polymorphism in Japanese female athletes from different sport types: An observational study

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