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

• Main Authors: Praval Khanal, Lingxiao He, Adam J. Herbert, Georgina K. Stebbings, Gladys L. Onambele-Pearson, Hans Degens, Christopher I. Morse, Martine Thomis, Alun G. Williams
• Format: Article
• Language: English
• Published: MDPI AG 2020-12-01
• Series: Genes
• Subjects: single nucleotide polymorphisms; neuromuscular; elderly; genotyping
• Online Access: https://www.mdpi.com/2073-4425/11/12/1459

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