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

Abstract

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.

Association between vitamin D status, physical performance, sex, and lifestyle factors: a cross-sectional study of community-dwelling Kosovar adults aged 40 years and older

“…A final point of concern observed in this study was the high levels of overweight and obesity among the study participants (40.4% and 43.1% in the total population, 35.8% and 51.9% in females, 45.9% and 32.6% in males) highlighting this as a growing public health concern. Similarly high rates were reported in our previous publication [ 17 , 18 ]. Considering the fact that vitamin D insufficiency and deficiency in people with obesity are thought to be a result of the increased distribution volume due to deposition in body fat compartments [ 59 ], the high percentage of overweight and obesity in our study population may explain the higher levels of vitamin D insufficiency and deficiency.…”

“…A total of 297 individuals aged ≥ 40 years participated in this study, about half of whom (138 or 46.5%) were recalled from a previous study [ 17 , 18 ]. The characteristics of this study’s participants are summarised in Table 1 .…”

“…Exclusion criteria were any acute illness that would prevent the participant from participating in any exercise test, and any serious chronic illness that required continuous medical care. The recruitment process included recall of participants from a previous cross-sectional, observational study [ 17 , 18 ] and advertisements for additional participants (throughout the city and older people’s association).…”

Impact of Using Population-Specific Cut-Points, Self-Reported Health, and Socio-Economic Parameters to Predict Sarcopenia: A Cross-Sectional Study in Community-Dwelling Kosovans Aged 60 Years and Older

“…Besides the differences in sex, the high percentages of obesity in females may serve as a further triggering factor, especially due to its inverse association with physical ability [ 48 ]. Despite the sex-specific differences in the sarcopenia-related components, overweight and obese instances might also be related and explained through genetic predisposing factors [ 49 ], notably through the suggested potential influence that a certain single nucleotide polymorphism (ACTN3 R577X) might exert on knee extensors’ peak torque and BMI, particularly in females [ 50 ]. However, not only the gene × gene, but the gene × environment interactions must be further studied to better analyze the interaction.…”

The role of genes and myokines of developing sarcopenia: A review

“…(2021 г.) в своей научной работе вовсе не выявили прямых значимых связей 3 генотипов ACTN3 (RR, RX и XX) с мышечной силой, ММ и функциональными характеристиками [27]. В то же время имеются противоположные данные о влиянии аллеля Х на прогрессирование саркопении.…”