Abstract
The age-related decline in skeletal muscle mass, strength and function known as ‘sarcopenia’ is associated with multiple adverse health outcomes, including cardiovascular disease, stroke, functional disability and mortality. While skeletal muscle properties are known to be highly heritable, evidence regarding the specific genes underpinning this heritability is currently inconclusive. This review aimed to identify genetic variants known to be associated with muscle phenotypes relevant to sarcopenia. PubMed, Embase and Web of Science were systematically searched (from January 2004 to March 2019) using pre-defined search terms such as “aging”, “sarcopenia”, “skeletal muscle”, “muscle strength” and “genetic association”. Candidate gene association studies and genome wide association studies that examined the genetic association with muscle phenotypes in non-institutionalised adults aged ≥50 years were included. Fifty-four studies were included in the final analysis. Twenty-six genes and 88 DNA polymorphisms were analysed across the 54 studies. The ACTN3, ACE and VDR genes were the most frequently studied, although the IGF1/IGFBP3, TNFα, APOE, CNTF/R and UCP2/3 genes were also shown to be significantly associated with muscle phenotypes in two or more studies. Ten DNA polymorphisms (rs154410, rs2228570, rs1800169, rs3093059, rs1800629, rs1815739, rs1799752, rs7412, rs429358 and 192 bp allele) were significantly associated with muscle phenotypes in two or more studies. Through the identification of key gene variants, this review furthers the elucidation of genetic associations with muscle phenotypes associated with sarcopenia.
Highlights
Sarcopenia refers to the progressive deterioration in skeletal muscle mass, strength and physical function with advancing age [1]
Six additional articles were retrieved through the manual search of reference lists, leaving a total of 54 articles to be included in this systematic review
The ability to maintain skeletal muscle mass, strength and function with advancing age is essential in preventing sarcopenia
Summary
Sarcopenia refers to the progressive deterioration in skeletal muscle mass, strength and physical function with advancing age [1]. Working Group on Sarcopenia in Older People [2]. These criteria are strong predictors of a multitude of adverse health outcomes, such as cardiovascular disease [3], functional disability [4], fall incidence [5], hospitalisation [6], stroke [7] and mortality [8]. The fundamental loss of independence and susceptibility to additional diseases caused by sarcopenia places a significant burden on public health systems worldwide. This burden is anticipated to grow considerably in coming decades, in line with increases in longevity and the consequent rise in
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