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| 雌激素受体OL基因多态性与骨质疏松关系 的研究进展 |
| Research progress of the relationship between the estrogen receptor alpha gene polymorphisms and osteoporosis |
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| DOI： |
| 中文关键词: 骨质疏松 雌激素受体a基因；多态性 |
| 英文关键词:Osteoporosis Estrogen receptor alpha gene Polymorphisms |
| 基金项目: |
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| 摘要点击次数: 1365 |
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| 中文摘要: |
| ：骨质疏松症是一种以骨密度降低、骨微结构破坏和脆性骨折发生风险增加为主要特征的全身 性代谢性骨骼疾病。有相当充分的证据表明，遗传因素与其发生密切相关。目前已有大量有关雌激 素受体ot基因多态性与骨质疏松关系的研究，但检测方法、研究对象、选取指标、样本量等因素的差 异,使结果得不到共识。随着检测技术的不断进步以及分析方法的不断更新，已初步确定传统基因多 态性位点PvuII和Xbal与骨质疏松相关,一些新的单核苷酸多态性位点也被发现。同时，研究领域还 延伸到了药物基因组学，以预测治疗药物对不同基因型患者的疗效。为了进一步阐明雌激素受体(X 基因多态性与骨质疏松的关系，应进行更为合理的研究设计,并且充分考虑基因与基因以及环境与基 因间的相互作用。相信随着研究的不断深人，雌激素受体a基因多态性位点对骨质疏松的影响及机 制的阐明，骨质疏松的早期诊断和个性化治疗会逐步实现。 |
| 英文摘要: |
| Osteoporosis is a systemic bone metabolic disease, which is characterized by low bone mineral density, structural deterioration of bone tissue, and increased risk of bone fracture. Sufficient evidences have indicated that genetic factors are closely correlated with the incidence of osteoporosis. Currently, there has been a large amount of research concerning the relationship between the estrogen receptor alpha gene polymorphisms and osteoporosis. However, diversities in detection methodsf research objects, indicators, sample size, and other factors lead to different results. With the progress of detection technology and the update of analytical methods, traditional gene polymorphism sites PvuII and Xbal have been preliminarily identified to be related to osteoporosis. Meanwhile, some new single nucleotide polymorphism (SNP) sites have also been found. Furthermore, the research area also extends to pharmacogenomics to predict the efficacy of the drug in patients with different genotypes, In order to further clarify the relationship between the estrogen receptor alpha gene polymorphisms and osteoporosis, we should design our study more rationally. And we should take full consideration of the interactions between genes and genes as well as between environment and genes. Along with the deepening of study and the elucidation of the impact and mechanisms of the estrogen receptor alpha gene polymorphisms in osteoporosis, early diagnosis and personalized treatment of osteoporosis will be gradually, achieved. |
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