Copyright © 2005 by the Johns Hopkins Bloomberg School of Public Health
HUMAN GENOME EPIDEMIOLOGY (HuGE) REVIEW |
Estrogen Receptor Gene Polymorphisms and the Genetics of Osteoporosis: A HuGE Review
1 Department of Internal Medicine, Endocrine-Metabolic Sciences and Biochemistry, Faculty of Medicine, University of Siena, Siena, Italy.
2 Department of Clinical Physiopathology, Faculty of Medicine, University of Florence, Florence, Italy.
Osteoporosis (OMIM166710) is a common skeletal disorder characterized by low bone mass and microarchitectural deterioration of bone tissue with increased susceptibility to fracture. Osteoporosis has a complex etiology and is considered a multifactorial polygenic disease in which genetic determinants are modulated by hormonal, environmental, and nutritional factors. Estrogens are known to play an important role in regulating bone homeostasis and preventing postmenopausal bone loss. They act through binding to two different estrogen receptors (ERs), ER
(OMIM133430) and ERß (OMIM601663), which are members of the nuclear receptor superfamily of ligand-activated transcription factors. Different polymorphisms have been described in both the ER and ER ß genes. Although a large number of association studies have been performed, the individual contribution of these polymorphisms to the pathogenesis of osteoporosis remains to be universally confirmed. Moreover, an important aim in future work will be to define their functional molecular consequences and their interaction with the environment in the causation of the osteoporotic phenotype. A further promising application of these polymorphisms comes from their pharmacogenomic implications, with the possibility of providing better guidance for therapeutic regimens, such as estrogen replacement therapy and selective ER modulators. At the moment, no recommendations for population-based screening can be made.
epidemiology; estrogen receptor alpha; estrogen receptor beta; genetics; genome, human; osteoporosis; polymorphism, genetic
Abbreviations: BMD, bone mineral density; ER, estrogen receptor; PCR, polymerase chain reaction; RFLP, restriction fragment length polymorphism; VDR, vitamin D receptor; VNTR, variable number of tandem repeats.
Correspondence to Dr. Luigi Gennari, Department of Internal Medicine, Endocrine-Metabolic Sciences and Biochemistry, University of Siena, Viale Bracci, 53100 Siena, Italy (e-mail: gennari{at}unisi.it).
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