2006 update on genetic determinants of osteoporosis.

M L Brandi, S Carbonell Sala

Journal: Journal of endocrinological investigation 2008;30(6 Suppl):2-7

PMID: 17721066

Abstract

Since the identification of vitamin D gene, the first one characterised by being related to osteoporosis, a high number of genetic studies, especially association studies, emerged to elucidate the genetic complex pattern of this disease. Osteoporosis is a skeletal chronic multifactorial disease, characterised by abnormal low bone mass and microarchitectural deterioration of bone tissue. It is getting a more and more important health problem, affecting a larger number of people, especially in developed countries. Studies demonstrated that variations in several genes, involved in bone metabolism, lead to the osteoporotic condition. Understanding the pathogenesis of osteoporosis requires the genetic characterization of the relationship among multiple gene variants, the encoded proteins, and the environmental mediators vs bone physiology. This paper pretends to give a panoramic on actual genetics of osteoporosis situation, taking into account the most important recent genetic studies in the field.

Address: Department of Internal Medicine, School of Medicine, University of Florence, 50139 Florence, Italy.

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