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Efeito da variabilidade genética e da concentração plasmática da osteocalcina e sua relação com os níveis séricos de testosterona em Homens
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Orientador(es)
Resumo(s)
Currently, osteocalcin has been studied not only as a bone matrix protein but also as a hormone with potential endocrine actions in different physiological processes. In this context, it has been associated with the regulation of energy metabolism, gonadal function, and bone homeostasis, justifying the investigation of its role in various aspects of male health. The aim of this study was to evaluate the relationship between serum testosterone levels, biochemical, anthropometric, and densitometric parameters, and the genetic variability of osteocalcin (rs1800247) and its receptor GPRC6A (rs2274911), in a population of men attending endocrinology consultations. This was a cross-sectional retrospective study including 123 individuals, divided into four groups according to total serum testosterone concentration (≤2.5; >2.5–≤3.2; >3.2–<4; ≥4 ng/mL). Anthropometric, biochemical, and hormonal data, as well as bone mineral density, were analyzed. DNA extraction and genotyping allowed the identification of the polymorphisms under study, and statistical analysis was performed using different genetic models and tests according to the distribution of the variables. The results showed that higher testosterone levels were associated with favorable markers of bone metabolism, while reduced concentrations were related to dyslipidemia and greater insulin resistance. Consistent correlations were also observed with LH, FSH, SHBG, and estradiol. Regarding genetic polymorphisms, no significant associations were found with serum testosterone levels or bone mineral density, although trends of metabolic influence emerged in certain genotypes. In summary, this study reinforces the relevance of testosterone levels as regulators of bone and metabolic parameters and suggests that the genetic variability of osteocalcin and its receptor may indirectly contribute to these interactions. These findings highlight the importance of future studies in larger populations to clarify the role of these polymorphisms in metabolic and hormonal regulation.
Descrição
Tese de Mestrado, Biologia Humana e Ambiente, 2026, Universidade de Lisboa, Faculdade de Ciências
Palavras-chave
Men Osteocalcin rs1800247 rs2274911 Testosterone