Is there a relationship between ACTN3 R577X gene polymorphism and sarcopenia?

Kahraman M., Ozulu Turkmen B., Bahat-Ozturk G., Catikkas N. M., Oren M. M., Sahin A., ...More

AGING CLINICAL AND EXPERIMENTAL RESEARCH, vol.34, no.4, pp.757-765, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 34 Issue: 4
  • Publication Date: 2022
  • Doi Number: 10.1007/s40520-021-01996-8
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Abstracts in Social Gerontology, AgeLine, CAB Abstracts, CINAHL, EMBASE, MEDLINE
  • Page Numbers: pp.757-765
  • Keywords: ACTN3 gene, Polymorphism, Relationship, Sarcopenia, ALTERNATIVE DEFINITIONS, GENOTYPE, ALPHA-ACTININ-3
  • Istanbul University Affiliated: Yes


Background and aims The alpha-actinin (ACTN) genes are important structural components of the sarcomere. Sarcopenia is a common geriatric syndrome characterized by morbidity and mortality. Our study aimed to examine the relationship between the ACTN3 R577X gene and sarcopenia in community-dwelling Turkish adults. Methods We designed a cross-sectional study among the patients aged >= 65 years admitted to the geriatric outpatient clinic. We recorded the general characteristics of the patients. We used the Jamar hand dynamometer to evaluate handgrip strength. Body composition was estimated using bioimpedance analysis. Sarcopenia was diagnosed according to the European Working Group on Sarcopenia in Older People2 criteria with population-specific cutoffs. We performed analyses of low muscle mass (LMM) with skeletal muscle mass index adjusted for body mass index [SMMI(BMI)]. We further categorized the SMMI(BMI) cutoffs into tenths. The analyzes were performed according to the 90th percentile SMMI(BMI) cutoffs. Peripheral blood samples were collected to determine the ACTN3 genotypes. Results 197 participants were included [mean age: 76.3 +/- 6.1 years, 151 (76.6%) women]. The proportions of the ACTN3 genotypes were as follows: RX (45.1%) > RR (31%) > XX (23.9%). The significant difference between genotypes was found only for low SMMI(BMI) according to the 90th percentile (p = 0.025). In multivariate analysis, only gender (female) was independently associated with LMM. Conclusion We did not find any association between ACTN3 R577X gene polymorphism and probable sarcopenia, confirmed sarcopenia and LMM. Besides, much more research is needed to reveal how ethnicity affects the muscles of older adults with ACTN3 R577X gene polymorphism.