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多种基因变异与老年女性衰老骨骼肌表型的关联。

The Association of Multiple Gene Variants with Ageing Skeletal Muscle Phenotypes in Elderly Women.

机构信息

Musculoskeletal Science and Sports Medicine Research Centre, Department of Sport and Exercise Sciences, Manchester Metropolitan University, Manchester M15 6BH, UK.

Department of Movement Sciences, Physical Activity, Sports & Health Research Group, KU Leuven, 3001 Leuven, Belgium.

出版信息

Genes (Basel). 2020 Dec 5;11(12):1459. doi: 10.3390/genes11121459.

Abstract

There is a scarcity of studies that have investigated the role of multiple single nucleotide polymorphisms (SNPs) on a range of muscle phenotypes in an elderly population. The present study investigated the possible association of 24 SNPs with skeletal muscle phenotypes in 307 elderly Caucasian women (aged 60-91 years, 66.3 ± 11.3 kg). Skeletal muscle phenotypes included biceps brachii thickness, vastus lateralis cross-sectional areas, maximal hand grip strength, isometric knee extension and elbow flexion torque. Genotyping for 24 SNPs, chosen on their skeletal muscle structural or functional links, was conducted on DNA extracted from blood or saliva. Of the 24 SNPs, 10 were associated with at least one skeletal muscle phenotype. rs11549465 was associated with three skeletal muscle phenotypes and rs7460 and rs10783485 were each associated with two phenotypes. rs7843014, rs1800012, rs1800169, rs1799983, rs1805086, rs7832552 and rs9939609 were each associated with one. Elderly women possessing favourable genotypes were 3.6-13.2% stronger and had 4.6-14.7% larger muscle than those with less favourable genotypes. These associations, together with future work involving a broader range of SNPs, may help identify individuals at particular risk of an age-associated loss of independence.

摘要

目前的研究调查了 24 个 SNP 与 307 名老年白种女性(年龄 60-91 岁,66.3±11.3kg)骨骼肌表型的可能关联。骨骼肌表型包括肱二头肌厚度、股外侧肌横截面积、最大手握力、等长膝关节伸展和肘关节弯曲扭矩。选择与骨骼肌结构或功能相关的 24 个 SNP 进行基因分型,在从血液或唾液中提取的 DNA 上进行。在 24 个 SNP 中,有 10 个与至少一种骨骼肌表型相关。rs11549465 与三种骨骼肌表型相关,rs7460 和 rs10783485 各与两种表型相关。rs7843014、rs1800012、rs1800169、rs1799983、rs1805086、rs7832552 和 rs9939609 各与一种表型相关。具有有利基因型的老年女性比具有不利基因型的女性强 3.6-13.2%,肌肉大 4.6-14.7%。这些关联,以及未来涉及更广泛 SNP 的工作,可能有助于确定处于特定年龄相关独立性丧失风险的个体。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6e2/7762041/a4bf5f89a395/genes-11-01459-g001.jpg

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