Title Senyvo amžiaus žmonių genomo ir fenomo biožymenų, susijusių su sarkopenija ir senatviniu išsekimo sindromu, paieška ir analizė
Translation of Title Search and analysis of genomic and phenotypic biomarkers associated with sarcopenia and frailty in older adults.
Authors Kilaitė, Justina
DOI 10.15388/vu.thesis.918
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Pages 184
Keywords [eng] sarcopenia ; frailty ; genetics ; telomere length
Abstract [eng] Sarcopenia and frailty are geriatric syndromes characteristic of older adults, marked by overlapping clinical features and complex pathophysiology. Although large-scale genome-wide association studies (GWAS) have identified genetic variants associated with specific phenotypes, comprehensive investigations into the shared biological mechanisms of these syndromes remain limited. Telomere shortening is associated with aging and chronic diseases; however, its relationship with sarcopenia and frailty remains unclear. Furthermore, to date, no integrative analysis has been conducted examining the associations among genomic profiles, telomere length, and clinical phenotypes in older populations. The aim of this study was to investigate and evaluate phenotypic traits and genomic characteristics associated with sarcopenia and frailty in an older adult population. This cross-sectional study included over 200 older adults (≥65 years), who were divided into control and case groups. GWAS analysis identified two single nucleotide polymorphisms (rs75652203 and rs17102732) in a regulatory genomic region that were significantly associated with reduced muscle strength, a phenotype common to both syndromes. In addition, twelve genomic variants associated with a reduced muscle mass index were replicated as significant markers of the sarcopenia phenotype. Shorter relative telomere length was significantly correlated with older age and more pronounced frailty features, whereas longer telomeres were associated with greater appendicular muscle mass and higher levels of physical activity.
Dissertation Institution Vilniaus universitetas.
Type Doctoral thesis
Language Lithuanian
Publication date 2026