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Genetics and Genomics of Osteoporosis and Related Disorders 

Genetics and Genomics of Osteoporosis and Related Disorders
Chapter:
Genetics and Genomics of Osteoporosis and Related Disorders
Author(s):

Yoshiji Yamada

DOI:
10.1093/med/9780199896028.003.0023
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date: 30 October 2020

Osteoporosis is a major health problem of the elderly that is even distributed across the world. It is characterized by a reduction in bone mineral density (BMD) and deterioration in the microarchitecture of bone, both of which result in predisposition to fractures. Personalized prevention and treatment of osteoporosis and osteoporotic fractures are important public health goals. One approach is to identify disease susceptibility genes predisposing to osteoporosis. Genetic linkage analyses and candidate gene association studies have implicated various loci and genes in the regulation of BMD and the pathogenesis of osteoporosis or fractures. Recent genome-wide association studies (GWASs) have also been successful in identifying genes that predispose to osteoporosis or fractures. Although there has been extensive progress in the genetics of osteoporosis over the past decades, the genes that confer susceptibility to osteoporosis remain to be identified definitively. The genetic and genomic aspects of osteoporosis include monogenic bone diseases chromosomal disorders and complex genetic basis. Several loci and the genes are identified by linkage analyses, candidate gene approach, or GWAS predisposing to reduced BMD and osteoporosis. Such studies may provide insight into the function of these genes as well as into the role of genetics in the development of osteoporosis or osteoporotic fractures.

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