Abstract
Despite strong evidence of an inheritable component of muscle phenotypes, little progress has been made in identifying the specific genetic factors involved in the development of sarcopenia. Even rarer are studies that focus on predicting the risk of sarcopenia based on a genetic risk score. In the present study, we tested the single and combined effect of seven candidate gene variants on the risk of sarcopenia. Single nucleotide polymorphisms in candidate genes were genotyped using the KASP assay. We examined 190 older adults that were classified as non-sarcopenic or sarcopenic according to the diagnostic criteria of the European Working Group on Sarcopenia in Older People. Sarcopenia was associated with Methylenetetrahydrofolate reductase, Alpha-actinin-3, and Nuclear respiratory factor 2 genotypes. The combined effect of all three polymorphisms explained 39% of the interindividual variation in sarcopenia risk. Our results suggest that the single and combined effect of Methylenetetrahydrofolate reductase, Alpha-actinin-3, and Nuclear respiratory factor 2 polymorphism is associated with sarcopenia risk in older adults. Nowadays, as the population is getting older and older, great efforts are being made to research the etiology, diagnosis and treatment of sarcopenia. At the same time, small progress has been made in understanding the genetic etiology of sarcopenia. Given the importance of research on this disease, further genetic studies are needed to better understand the genetic risk underlying sarcopenia. We believe that this small-scale study will help to demonstrate that there is still much to be discovered in this field.
Highlights
The increasing prevalence of the elderly within the present population structure is the most prominent demographic aspect of the 21st century
Genetic markers Methylenetetrahydrofolate reductase [MTHFR 1.p36.2 A > C] and Alpha-actinin-3 [ACTN3 11.q13.2 C > T] have shown positive associations with athlete status in three or more studies, while Nuclear respiratory factor 2 [NRF2 15q21.2 C > A], Vitamin D receptor [vitamin D receptor (VDR) FokI 12q13.1 T > C], Adrenoceptor beta 2 [ADRB2 5q32 G > A], and Neuronal PAS domain-containing protein 4 [NPAS4 11q13.2 A > G] in two or more studies, providing evidence for potentially important DNA polymorphisms that contribute to muscle-related phenotypes (Ahmetov and Fedotovskaya, 2015)
We examined whether the individual polymorphism in the Methylenetetrahydrofolate reductase [MTHFR 1.p36.2 A > C], Alpha-actinin-3 [ACTN3 11.q13.2 C > T], Nuclear respiratory factor 2 [NRF2 15q21.2 C > A], Vitamin D receptor [VDR FokI 12q13.1 T > C], Adrenoceptor beta 2 [ADRB2 5q32 G > A], C-X3-C motif chemokine receptor 1 [CX3CR1 3.p22 C > T], and Neuronal PAS domaincontaining protein 4 [NPAS4 11q13.2 A > G] genes are associated with sarcopenia in older adults
Summary
The increasing prevalence of the elderly within the present population structure is the most prominent demographic aspect of the 21st century. Genetic markers Methylenetetrahydrofolate reductase [MTHFR 1.p36.2 A > C (rs1801131)] and Alpha-actinin-3 [ACTN3 11.q13.2 C > T (rs1815739)] have shown positive associations with athlete status in three or more studies, while Nuclear respiratory factor 2 [NRF2 15q21.2 C > A (rs12594956)], Vitamin D receptor [VDR FokI 12q13.1 T > C (rs2228570)], Adrenoceptor beta 2 [ADRB2 5q32 G > A (rs1042713)], and Neuronal PAS domain-containing protein 4 [NPAS4 11q13.2 A > G (rs7947391)] in two or more studies, providing evidence for potentially important DNA polymorphisms that contribute to muscle-related phenotypes (Ahmetov and Fedotovskaya, 2015). Some candidate genes (e.g., angiotensin I converting enzyme, Alpha-actinin-3, thyrotropin releasing hormone receptor, vitamin D receptor, Nuclear respiratory factor 2, and Methylenetetrahydrofolate reductase) have been studied in association with skeletal muscle mass and strength phenotypes in older adults (Roth, 2012). Due to MTHFR functional variant, has been suggested as a biomarker of physical function, such as physical limitation (Swart et al, 2013), reduced walking speed (Vidoni et al, 2017), and grip strength (Swart et al, 2013; Vidoni et al, 2018)
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