Abstract
(Englisch)
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The problem of osteoporosis in men is underestimated, although this disease affects a substantial proportion of the male gender. Among the candidate genes susceptible to influence bone mineral mass and bone size, the LDL receptor-related protein 5 gene (LRP5) is a novel member of the low density lipoprotein (LDL) receptor family. Loss-of-function mutations in LRP5 have been found responsible for osteoporosis pseudoglioma syndrome. On the other hand, a unique gain-of-function mutation has been reported to cause 'high bone mass' in two kindreds. Preliminary results indicate that polymorphisms in this gene are associated with bone mass and stature in healthy young males. Interleukin-6 (IL6) plays a central role in the activation of bone turnover. Functional allelelic polymorphisms in the regulatory region of IL6 gene are associated with bone turnover in elderly women. Recently it has been proposed that IL6 allelic polymorphisms could also be associated with bone mineral mass in adolescent/young males. In the present research project, we intend to evaluate the relationship between allelic polymorphisms of IL6 and/or LRP5, and bone mineral growth, stature, and its interaction with environmental factors such as physical exercise and/or dietary calcium or protein intakes, in healthy male children, adolescent and young adults, in both cross-sectional and longitudinal analyses. Objectives: 1. To investigate the relationship between bone mineral mass, density, size and LRP5 gene polymorphisms in healthy children, adolescent and young adult males. 2. To investigate the relationship between bone mineral mass, density, size and Interleukin-6 gene polymorphisms in healthy children, adolescent and young adult males. 3. To investigate the interaction between the association above mentioned, and calcium and/or protein nutritional intakes, and/or physical exercise in healthy children, adolescent and young adult males.
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