Translational Genetics of Osteoporosis: From Population Association to Individualized Prognosis

Tran, Bich Huu; Nguyen, Tuan V.

doi:10.1002/9781118453926.ch44

Cited by 3 publications

(1 citation statement)

References 121 publications

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“…Mutations in genes belonging to different pathways, like the RANK-RANKL-OPG pathway (TNFRSF11A, TNFRSF11B and TNFSF11), the Wnt/b-catenin pathway (LRP5, LRP6, WNT1 and SOST) and the estrogen pathway (ESR1), lead to deterioration of bone metabolism. 3 During the last decades, the common approaches to determine the genetic contribution to osteoporosis have been family studies (linkage analysis), candidate gene and genomewide association studies (GWASs). GWASs have allowed identification of 460 chromosomal loci throughout the genome that are associated with various skeletal characteristics relevant to osteoporosis, such as cortical and trabecular bone mineral density (BMD), [4][5][6][7][8] cortical bone thickness, 9 bone size, 10 peak bone mass and predisposition to peripheral and spinal fractures.…”

Section: Introductionmentioning

confidence: 99%

Value of rare low bone mass diseases for osteoporosis genetics

Costantini

Mäkitie

2016

BoneKEy Reports

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Osteoporosis presents as increased susceptibility to fractures due to bone loss and compromised bone microstructure. Osteoporosis mainly affects the elderly population, but it is increasingly recognized that compromised bone health with low bone mass and increased fractures may have its onset already in childhood. In such cases, genetic component is likely to contribute more than lifestyle factors to disease onset. During the last decade, our understanding of the genetic determinants of osteoporosis has significantly increased through family studies, candidate gene studies and genome-wide association studies (GWASs). GWASs have led to identification of several genetic loci associated with osteoporosis. A valuable contribution to the research field has been made through studies involving families with childhood-onset rare bone diseases such as osteogenesis imperfecta, osteoporosis-pseudoglioma syndrome and various other skeletal dysplasias with reduced bone mass. Some genes involved in rare low bone mass diseases, such as LRP5 and WNT1, participate in the Wnt/β-catenin pathway, and their discovery has underscored the importance of this pathway for normal skeletal health. The still continuing discovery of gene defects underlying various low bone mass phenotypes contributes to our understanding of normal bone metabolism and enables development of new therapies for osteoporosis.

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Section: Introductionmentioning

confidence: 99%

Value of rare low bone mass diseases for osteoporosis genetics

Costantini

Mäkitie

2016

BoneKEy Reports

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Patogenia de la osteoporosis

Oliveri¹,

Mastaglia²

2014

El Hueso en Las Enfermedades Endocrinas Y Nutricionales

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The genetics of bone mass and susceptibility to bone diseases

2016

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Osteoporosis is characterized by low bone mass and an increased risk of fracture. Genetic factors, environmental factors and gene-environment interactions all contribute to a person's lifetime risk of developing an osteoporotic fracture. This Review summarizes key advances in understanding of the genetics of bone traits and their role in osteoporosis. Candidate-gene approaches dominated this field 20 years ago, but clinical and preclinical genetic studies published in the past 5 years generally utilize more-sophisticated and better-powered genome-wide association studies (GWAS). High-throughput DNA sequencing, large genomic databases and improved methods of data analysis have greatly accelerated the gene-discovery process. Linkage analyses of single-gene traits that segregate in families with extreme phenotypes have led to the elucidation of critical pathways controlling bone mass. For example, components of the Wnt-β-catenin signalling pathway have been validated (in both GWAS and functional studies) as contributing to various bone phenotypes. These notable advances in gene discovery suggest that the next decade will witness cataloguing of the hundreds of genes that influence bone mass and osteoporosis, which in turn will provide a roadmap for the development of new drugs that target diseases of low bone mass, including osteoporosis.

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Translational Genetics of Osteoporosis: From Population Association to Individualized Prognosis

Cited by 3 publications

References 121 publications

Value of rare low bone mass diseases for osteoporosis genetics

Value of rare low bone mass diseases for osteoporosis genetics

Patogenia de la osteoporosis

The genetics of bone mass and susceptibility to bone diseases

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