An association between vitamin D level and muscle-related traits has been frequently reported. Vitamin D level is dependent on various factors such as sunlight exposure and nutrition. But also on genetic factors. We, therefore, hypothesize that single nucleotide polymorphisms (SNPs) within the vitamin D pathway-related genes could contribute to muscle mass and function via an impact on vitamin D level. However, the integration of studies investigating these issues is still missing. Therefore, this review aimed to systematically identify and summarize the available evidence on the association between SNPs within vitamin D pathway-related genes and vitamin D status as well as various muscle traits in healthy adults. The review has been registered on PROSPERO and was conducted following PRISMA guidelines. In total, 77 studies investigating 497 SNPs in 13 different genes were included, with significant associations being reported for 59 different SNPs. Variations in GC, CYP2R1, VDR, and CYP24A1 genes were reported most frequently, whereby especially SNPs in the GC (rs2282679, rs4588, rs1155563, rs7041) and CYP2R1 genes (rs10741657, rs10766197, rs2060793) were confirmed to be associated with vitamin D level in more than 50% of the respective studies. Various muscle traits have been investigated only in relation to four different vitamin D receptor (VDR) polymorphisms (rs7975232, rs2228570, rs1544410, and rs731236). Interestingly, all of them showed only very low confirmation rates (6–17% of the studies). In conclusion, this systematic review presents one of the most comprehensive updates of the association of SNPs in vitamin D pathway-related genes with vitamin D status and muscle traits in healthy adults. It might be used for selecting candidate SNPs for further studies, but also for personalized strategies in identifying individuals at risk for vitamin D deficiency and eventually for determining a potential response to vitamin D supplementation.

This article reports test-retest reliability data of laboratory- and field-based performance tests as well as body composition analyses of younger and older Kosovan adults. In total, 57 healthy young (18–35 years) and 61 older (>60 years) participants took part in two identical test sessions, with a median [25 th – 75 th percentile] of 14 [13–21] days in between. Functional performance tests included 30-s chair stand test (CST), 30-s arm curl test (ACT), six-minutes walking test (6MWT), sit and reach test, timed up and go test (TUG), as well as the assessment of gait speed (GS) at normal and fast pace. Isometric handgrip strength (HGS) was used to estimate strength of the dominant hand. Isokinetic peak torque (PT) and average power (AvgP) for knee extension and flexion were determined at velocities of 60°/s and 120°/s. Body composition assessments included body fat percentage, skeletal muscle mass (SMM) and index (SMI) as well as appendicular skeletal muscle mass (ASMM) and index. Secondary endpoints included self-perceived health status and potential co-morbidities. All performance test outcomes as well as body fat percentage, SMM, ASMM, and self-perceived health were significantly better in young as compared to older participants ( p < 0.001). Improvements from test to retest were observed for CST ( p < 0.001), PT flexion (60°/s: p = 0.001, 120°/s: p = 0.041), AvgP flexion (60°/s: p < 0.001, 120°/s: p < 0.001), AvgP extension (120°/s: p = 0.050), but also for SMM ( p = 0.021) and SMI ( p = 0.021). Only for CST and HGS a time x age group interaction was detected ( p < 0.05). Acceptable reliability (ICC > 0.7) was observed for all parameters in both age groups, except for some of the measures from the isokinetic dynamometry, where ICCs were generally lower in older participants, but fell below 0.7 for AvgP flexion at 60°/s (ICC = 0.6) and at 120°/s (ICC = 0.67) as well as for PT flexion at 120°/s (ICC = 0.69). These data's importance lay upon their potential use in epidemiological studies observing muscle strength, peak torque, power, physical performance and body composition over various age groups, either in the same or similar populations, or for comparison to other populations.

Objective:This observational, cross-sectional study, investigates and compares the differences of BMD, T-score, Z-score and isometric strength between dominant (D) versus non-dominant (ND) arms of 162 subjects aged 40-65 in a developing, low income country (Kosova).Material and Methods:Bone Mineral Density (BMD), T-score and Z-score at distal forearm regions of both arms (measured by DXA scan), together with the Handgrip Isometric Strength (HIS) (by handgrip) were evaluated in a total subjects (53 Males and 109 Females). Additionally, General Healthcare Status Questionnaire together with self-administrated International Physical Activity Questionnaire (IPAQ) were filled.Results:Significant differences (p<0.05) between arms were found in BMD, T-score, and Z-score in total subjects and in females, whereas not significant differences (p>0.05) were observed in Males BMD comparing to significantly higher results (p<0.05) in T-score and Z-score. Significant differences (p<0.05) were also found in total subjects and in females handgrip, but not (p>0.05) in males. When comparing the total subject’s BMD, T-score, Z-score and Handgrip based on the PA levels (1 to 3 according to IPAQ scoring) no significant differences (p>0.05) were found between PA1, as well as PA3 whereas significantly differences (p<0.05) were found in D arms of PA2 level.Conclusion:The study analyses side-to-side differences in bone density and muscular force between D and ND arms amongst a population which is frequently exposed to diagnostic screenings for age related osteomuscular conditions (aged 40-60), and demonstrates that these differences should be in consideration amongst clinicians, but not in the way it is done right now.

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.

The age-related decline of muscle strength, mass, and physical performance (sarcopenia) has been raising concerns among the scientific and healthcare communities. This decline may differ between populations, age groups, and sexes. Therefore, we aimed to explore sarcopenia together with the impact of health and socio-economic parameters in mature Kosovans. A cross-sectional study was conducted on community-dwelling adults aged ≥60 years (n = 240, 47.1% female) from the Prishtina region. Sarcopenia was identified using the following criteria: (i) the European Working Group in Sarcopenia for Older People (EWGSOP1), (ii) the revised EWGSOP2 algorithms, and (iii) sex-specific cut-points derived from the Kosovan population. In males, pre-sarcopenia/probable sarcopenia was detected from the EWGSOP1, EWGSOP2 and Kosovan-specific criteria at values of 3.1%, 5.5%, and 28.3%; sarcopenia was detected at 1.6%, 5.5%, and 0.0%, and severe sarcopenia was detected at 4.7%, 2.4%, and 4.7%, respectively. Pre-sarcopenia was lower in females (0.9%, 5.3%, 16.8%), with no cases of sarcopenia or severe sarcopenia detected by either algorithm. Sarcopenic males were older, had a lower weight, BMI, skeletal muscle mass, performance score, nutritional status (p < 0.001), educational level (p = 0.035), and higher malnourishment risk (p = 0.005). It is notable that high overweight and obesity levels were also detected (93.8% of females, 77.1% of males). This study highlights the importance of using population-specific cut-points when diagnosing sarcopenia, as otherwise its occurrence may be underestimated, especially in obese persons. Age, body composition, physical performance, health, and socio-economic conditions can influence the occurrence of sarcopenia.