Institute for Sport and Health, University College Dublin, Dublin 4, Ireland.
Genomics Medicine Ireland, Dublin, Ireland.
Cells. 2019 Dec 19;9(1):12. doi: 10.3390/cells9010012.
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 , and genes were the most frequently studied, although the , , , and 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.
与多种不良健康结果相关的骨骼肌质量、力量和功能的年龄相关性下降,即“肌肉减少症”,包括心血管疾病、中风、功能障碍和死亡。虽然骨骼肌特性被认为具有高度遗传性,但目前关于支持这种遗传性的具体基因的证据尚无定论。本综述旨在确定与肌肉减少症相关的肌肉表型相关的已知与遗传相关的基因变异。使用预定义的搜索词,如“衰老”、“肌肉减少症”、“骨骼肌”、“肌肉力量”和“遗传关联”,系统地搜索了 PubMed、Embase 和 Web of Science,从 2004 年 1 月到 2019 年 3 月。包括了对 50 岁及以上非机构化成年人的肌肉表型的遗传关联进行研究的候选基因关联研究和全基因组关联研究。最终分析纳入了 54 项研究。在这 54 项研究中,分析了 26 个基因和 88 个 DNA 多态性。基因、和基因是研究最多的,但基因、、、和基因也在两项或更多研究中显示与肌肉表型显著相关。有 10 个 DNA 多态性(rs154410、rs2228570、rs1800169、rs3093059、rs1800629、rs1815739、rs1799752、rs7412、rs429358 和 192bp 等位基因)在两项或更多研究中与肌肉表型显著相关。通过鉴定关键基因变异,本综述进一步阐明了与肌肉减少症相关的肌肉表型的遗传关联。