Genetic Epidemiology of Osteoporosis and Its Application

Abstract

Osteoporosis is an important complex disorder with a high global prevalence.It poses a major challenge to modern medicine with high treatment costs and numerous studies have endeavored to unravel the pathogenesis.Clinical assessment of osteoporosis often incorporates information about a family history of osteoporotic fractures.The observation of a 3-fold increased risk of fractures in an individual with a positive parental history of hip fracture provides strong evidence for the heritability of osteoporosis.Onset and progression of osteoporosis is generally controlled by multiple genetic and environmental factors,as well as their interactions,with rare cases determined by a mono-gene.In an attempt to identify the genetic markers for complex diseases such as osteoporosis,there has been a move away from traditional linkage mapping studies to higher density genome-wide association(GWA) studies.The advent of high throughput technology allows genotyping of millions of DNA markers in the human genome and the identification and characterization of causal variants and loci that underly the determination of osteoporosis.An overview of the major findings and clinical applications of these genome -wide linkage and association studies are presented in this article.