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

Khanal, Praval and He, Lingxiao and Herbert, Adam J. and Stebbings, Georgina K and Onambele-Pearson, Gladys L and Degens, Hans and Morse, Christopher I and Thomis, Martine and Williams, Alun G (2020) The Association of Multiple Gene Variants with Ageing Skeletal Muscle Phenotypes in Elderly Women. Genes, 11 (12). p. 1459. ISSN 2073-4425

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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. HIF1A rs11549465 was associated with three skeletal muscle phenotypes and PTK2 rs7460 and ACVR1B rs10783485 were each associated with two phenotypes. PTK2 rs7843014, COL1A1 rs1800012, CNTF rs1800169, NOS3 rs1799983, MSTN rs1805086, TRHR rs7832552 and FTO 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.

Item Type: Article
Identification Number:
3 December 2020Accepted
5 December 2020Published Online
Uncontrolled Keywords: single nucleotide polymorphisms; neuromuscular; elderly; genotyping
Subjects: CAH03 - biological and sport sciences > CAH03-01 - biosciences > CAH03-01-02 - biology (non-specific)
CAH03 - biological and sport sciences > CAH03-01 - biosciences > CAH03-01-07 - genetics
CAH03 - biological and sport sciences > CAH03-02 - sport and exercise sciences > CAH03-02-01 - sport and exercise sciences
CAH02 - subjects allied to medicine > CAH02-05 - medical sciences > CAH02-05-04 - anatomy, physiology and pathology
Divisions: Faculty of Health, Education and Life Sciences > Centre for Life and Sport Sciences (C-LASS)
Depositing User: Adam Herbert
Date Deposited: 14 Jan 2021 16:37
Last Modified: 12 Jan 2022 17:27

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