CANDIDATE GENES ASSOCIATED TO OSTEOPOROSIS

Abstract

Osteoporosis is a multifactorial and multigenic disease. Different approaches have been done in order to know the allelic variants of responsible genes associated to bone mineral density or other phenotypes implicated in the pathogenesis of this disease. Studies on candidate genes are quite frequent due to their easy feasibility and sensitivity to detect minor effects. Polymorphic studies on vitamin D receptor gene, accomplished by using restrictases or by measuring the size of microsatellites, have shown that those genotypes are associated to low bone mineral density or risk of fractures. However, the results are controversial and though metaanalysis indicate that there is a minor association between the genotypes and bone mineral density, this does not apply to all populations. Similar data have been obtained with regards to the polymorphisms of estrogen receptor, COLIA1, COLIA2, and IGF-I genes. Maybe studies of interaction gene by gene, gene-environment, increment in the size of the sample and more controlled meta-analysis can give a more satisfactory response. Many efforts are going in this direction because these studies have important implications to prevent the development of osteoporosis and to detect patients responsive to anti-osteoporosis treatment according to their genotypes.