Estudio de la asociación de polimorfismos genéticos del gen GREB1 (growth regulation by estrogen in breast cancer 1) con la salud ósea en mujeres postmenopáusicas

Abstract

Osteoporosis is a systemic skeletal disease characterized by low bone mineral density (BMD). Different studies suggest that the genetic load on BMD control can range from 40% to 92%. The gene Growth Regulation by Estrogen in Breast Cancer 1 (GREB1), is a key element in the proliferation of cancer cells stimulated by estrogens and androgens. Since estrogens and androgens regulate bone remodeling and are related to the expression of the GREB1 gene, it has been hypothesized that there is an association between the GREB1 gene, its frequent polymorphisms and the maintenance of BMD. The aim of this doctoral thesis is the study of bone health in a sample of postmenopausal women and the establishment of the possible associations with the polymorphisms rs5020877, rs10929757, rs4669749 and rs2304402 of the GREB1 gene. A total of 252 postmenopausal women were studied and a complete densitometric study was performed including double energy X-ray absorptiometry (DEXA) at the hip and lumbar spine level, peripheral quantitative computed tomography (pQCT) and quantitative bone scan assessment in the calcaneus (QUS). All participants were genotyped for the polymorphisms of interest. No significant associations were observed between any of the densitometric parameters determined and the polymorphisms studied (P>0.05) in all cases. We conclude that the GREB1 gene polymorphisms studied have no association with bone health determined by DEXA, pQCT or QUS.