Nedelcu Andreea-Dalila, Uzun Andreea-Bianca, Ciortea Viorela-Mihaela, Irsay Laszlo, Stanciu Liliana-Elena, Iliescu Dan Marcel, Popa Florina Ligia, Iliescu Mădălina-Gabriela
Faculty of Medicine, Doctoral School, "Ovidius" University of Constanta, 1 University Alley, Campus-Corp B, 900470 Constanta, Romania.
Faculty of Medicine, "Ovidius" University of Constanta, 1 University Alley, Campus-Corp B, 900470 Constanta, Romania.
Medicina (Kaunas). 2025 May 8;61(5):866. doi: 10.3390/medicina61050866.
Despite their high prevalence, sarcopenia and sarcopenic obesity remain underdiagnosed worldwide, significantly impacting the health and quality of life of aging individuals. Due to their multifactorial nature, the current management strategies do not address their underlying pathogenesis. This systematic review aims to identify single-nucleotide polymorphisms (SNPs) associated with sarcopenia and/or sarcopenic obesity in humans. . This systematic literature review followed the "Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA)" guidelines and the protocol registered in PROSPERO. Extensive research was performed in six databases (PubMed, Web of Science, Cochrane Library, Scopus, ScienceDirect, and SpringerLink) using keywords such as "sarcopenia", "sarcopenic obesity", "single nucleotide polymorphisms", "SNPs", and "genetic variants". The Q-Genie and ROBINS-E tools were utilized to assess the quality of the included studies. The final analysis included 12 studies, which were classified as good-quality according to the Q-Genie assessment and indicated a low to moderate risk of bias according to the ROBINS-E evaluation, collectively identifying 43 SNPs significantly associated with sarcopenia or sarcopenic obesity. Specifically, 24 SNPs were linked to sarcopenia, while 19 were associated with sarcopenic obesity. Understanding the implications of SNPs provides valuable insights into individual susceptibility and the variability observed across populations, potentially leading to more targeted and effective diagnostic and treatment strategies. Advancing clinical practice requires ongoing research into the genetic aspects of sarcopenia and sarcopenic obesity.
尽管肌肉减少症和肌肉减少性肥胖症的患病率很高，但在全球范围内仍未得到充分诊断，这对老年人的健康和生活质量产生了重大影响。由于它们具有多因素性质，目前的管理策略并未解决其潜在的发病机制。本系统评价旨在确定与人类肌肉减少症和/或肌肉减少性肥胖症相关的单核苷酸多态性（SNP）。 本系统文献综述遵循“系统评价和Meta分析的首选报告项目（PRISMA）”指南以及在PROSPERO中注册的方案。使用“肌肉减少症”、“肌肉减少性肥胖症”、“单核苷酸多态性”、“SNP”和“基因变异”等关键词在六个数据库（PubMed、Web of Science、Cochrane图书馆、Scopus、ScienceDirect和SpringerLink）中进行了广泛的研究。使用Q-Genie和ROBINS-E工具评估纳入研究的质量。最终分析包括12项研究，根据Q-Genie评估将其分类为高质量研究，根据ROBINS-E评估表明其偏倚风险低至中度，共识别出43个与肌肉减少症或肌肉减少性肥胖症显著相关的SNP。具体而言，24个SNP与肌肉减少症相关，19个与肌肉减少性肥胖症相关。了解SNP的影响可为个体易感性和人群中观察到的变异性提供有价值的见解，可能会带来更有针对性和有效的诊断及治疗策略。推进临床实践需要对肌肉减少症和肌肉减少性肥胖症的遗传方面进行持续研究。
