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


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.


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.


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.


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.

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This study was funded by the support of Istanbul University Scientific Research Projects Unit (Grant no. TSA-2019-34004). Except this, this research did not receive any specific grant from funding agencies in the public, commercial or not-for-profit sectors.

Author information




Concept and design: GB, MK, ASD and MAK. Carried out the studies: MK and BOT. Designed, performed and analyzed the experiments: AS, AD, SO and SP. Statistical analysis: MK, MAK and MMO. Writing original draft preparation: GB, MK and NMC. Writing review and editing: MAK, SO Supervision: MAK.

Corresponding author

Correspondence to Mustafa Kahraman.

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Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

This study was carried out in keeping with the principles of the Declaration of Helsinki. Approval was obtained from the Ethics Committee of Istanbul University, Istanbul Medical Faculty (No: 2018/1618). Informed consent All the participants signed an informed consent document.

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Kahraman, M., Ozulu Turkmen, B., Bahat-Ozturk, G. et al. Is there a relationship between ACTN3 R577X gene polymorphism and sarcopenia?. Aging Clin Exp Res (2021).

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  • ACTN3 gene
  • Polymorphism
  • Relationship
  • Sarcopenia