Genetic determinants of susceptibility to osteoporosis

Omar Albagha, S Ralston

    Research output: Contribution to journalArticle

    39 Citations (Scopus)

    Abstract

    Osteoporosis has a strong genetic component, and clinical studies have shown that heritable factors play a key role in regulating bone mineral density, ultrasound properties of bone, skeletal geometry, and bone turnover and contribute to the pathogenesis of osteoporotic fracture. In most cases, osteoporosis is caused by the combined effects of several different genes and their interaction with environmental influences, but it can occasionally occur as the result of mutations in a single gene. Genes that have been implicated in the regulation of bone mass in humans include the genes encoding lipoprotein receptor-related protein 5, sclerostin, transforming growth factor beta-1, collagen Ialpha1, vitamin D receptor, tumor necrosis factor receptor 2, and the estrogen receptor alpha. From a clinical standpoint, advances in knowledge about the genetic basis of osteoporosis are important because they offer the prospect of developing genetic markers for the assessment of fracture risk and the opportunity to identify molecules that will be used as targets for the design of new drugs for the prevention and treatment of bone disease.

    Original languageEnglish
    Pages (from-to)65
    Number of pages18
    JournalEndocrinology and Metabolism Clinics of North America
    Volume32
    Issue number1
    DOIs
    Publication statusPublished - 2003

    Keywords

    • BONE-MINERAL DENSITY
    • D-RECEPTOR GENE
    • QUANTITATIVE TRAIT LOCI
    • TRANSFORMING GROWTH-FACTOR-BETA-1 GENE
    • AUTOSOMAL RECESSIVE OSTEOPETROSIS
    • APOLIPOPROTEIN-E POLYMORPHISM
    • SP1 BINDING-SITE
    • FEMORAL-NECK
    • GENOME SCREEN
    • HIP-FRACTURE

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