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| 骨质疏松症的全基因组关联研究进展 |
| Progress of the GWAS related to osteoporosis |
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| DOI：10.3969/j.issn.1006.7108.2016.12.025 |
| 中文关键词: 骨质疏松 骨密度 脆性骨折 全基因组关联 表观遗传学 |
| 英文关键词:Osteoporosis Bone mineral density Brittle fracture Genome-wide association Epigenetics |
| 基金项目:国家自然科学基金青年基金项目（81301052) |
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| 中文摘要: |
| 骨质疏松是以骨量减少、骨微观结构退化为特征的，骨脆性增加以及易于发生骨折的一种全身性骨骼疾病。骨质疏松症临床上较为常见，随着全球人口老龄化，其发病率越来越高，由于骨质疏松骨折具有相当大的发病率和死亡率，因此，探究骨质疏松的发病机制尤为重要。骨质疏松发病原因复杂，受遗传和环境因素相互影响，具有高度的遗传决定性。近几年，骨质疏松症全基因组关联研究（GWASs)取得了巨大进步，开启了骨质疏松症的遗传学研究新时代。本文对骨质疏松症的遗传流行病学及骨质疏松症全基因组关联研究的现状和展望进行综述。 |
| 英文摘要: |
| Osteoporosis is a systemic skeletal disease characterized by reduced bone mass, degraded bone microstructure, and increased bone fragility. Osteoporosis is a clinically common disease, and with the aging trend of the world's population, its incidence rate is increasing. As osteoporotic fractures cause considerable morbidity and mortality, exploring the pathogenesis of osteoporosis is of particular importance. The etiology of osteoporosis is complex，which is influenced by both genetic and environmental factors. In recent years, the field of bone research has witnessed great progress of the whole genome association study (GWASs) of osteoporosis, which opens a new era in studying the genetics of osteoporosis. In this paper, the current status and prospects of research on the genetic epidemiology of osteoporosis and the whole genome association of osteoporosis were reviewed. |
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