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- Title
The ACTN3 R577X genotype is associated with muscle function in a Japanese population.
- Authors
Kikuchi, Naoki; Yoshida, Shou; Min, Seok-ki; Lee, Kihyuk; Sakamaki-Sunaga, Mikako; Okamoto, Takanobu; Nakazato, Koichi
- Abstract
Homozygosity for the common nonsense polymorphism R577X in the α-actinin-3 gene ( ACTN3) causes complete α-actinin-3 deficiency in fast-twitch skeletal muscle fibers. This study investigated whether the ACTN3 R577X polymorphism affects fitness status using a battery of tests in a large Japanese cohort. In the present study, 1227 subjects (age: 25-85 years) were genotyped for the ACTN3 R577X polymorphism (rs1815739) using a TaqMan SNP genotyping assay (Applied Biosystems). All subjects were divided into 2 groups based on their age (<55 years and ≥55 years). All subjects completed a questionnaire about exercise habits and were subjected to a battery of tests to assess their fitness status (including grip strength test, chair stand test, and 8-foot walking test). A significant association between the ACTN3 R577X genotype and chair stand test performance was observed in the group of men ≥55 using ANCOVA adjusted for age and exercise habits ( p = 0.036). The ACTN3 R577X genotype accounted for 2.5% of the variability in the results of the chair stand test among men in the ≥55 age group. Moreover, for the ≥55 age group, performance in the chair stand test was lower among those with the XX genotype than among those with the RR genotype ( p = 0.024) or RX genotype ( p = 0.005), unlike results for the <55 age group. No significant difference was noted for hand grip strength or 8-foot walking time. Thus, our results suggest that the ACTN3 R577X genotype is associated with lower-extremity muscle function in the Japanese population.
- Subjects
JAPAN; MUSCLE physiology; ANALYSIS of covariance; ANALYSIS of variance; BIOPHYSICS; CHI-squared test; EXERCISE; EXERCISE tests; GENETIC polymorphisms; GRIP strength; MUSCLE contraction; MUSCLE proteins; POLYMERASE chain reaction; QUESTIONNAIRES; RESEARCH funding; SCIENTIFIC apparatus &; instruments; STATISTICS; DATA analysis; DATA analysis software; DESCRIPTIVE statistics; GENOTYPES
- Publication
Applied Physiology, Nutrition & Metabolism, 2015, Vol 40, Issue 4, p316
- ISSN
1715-5312
- Publication type
Article
- DOI
10.1139/apnm-2014-0346