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| ERα及ERβ基因多态性与骨质疏松症相关性研究进展 |
| Research progress in the correlation between ERα and ER β gene polymorphisms and osteoporosis |
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| DOI：10.3969/j.issn.1006-7108.2025.04.017 |
| 中文关键词: 骨质疏松症 ERα ERβ 基因多态性 |
| 英文关键词:osteoporosis Erα Erβ genetic polymorphism |
| 基金项目:国家自然科学基金(32060208)；广西自然科学基金(2017GXNSFAA198101) |
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| 中文摘要: |
| 骨质疏松症是以骨量减少及骨微结构破坏为特征的复杂多基因疾病，易受基因层面调控的影响，多个基因突变遗传相互作用使其具有很强的遗传性，骨质疏松症成为当今老龄化社会的主要负担。越来越多的研究表明雌激素受体基因多态性和骨质疏松症的关系密切。ERα及ERβ是雌激素受体的两种主要亚型，主要在细胞核中起作用，通过与相关的DNA调控序列结合来调节特定靶基因的转录，且可以通过其介导的机制直接刺激成骨细胞及破骨细胞，从而引发骨密度下降，导致骨质疏松症的发生。为进一步探究雌激素受体基因多态性与发生骨质疏松症的风险，笔者从ERα:PvuII、XbaI、G2014A和ERβ:AluI、RsaI的5个位点基因多态性与骨质疏松症相关性进行综述，以推测骨质疏松症预防和治疗方面可能的发展。 |
| 英文摘要: |
| Osteoporosis is a complex polygenic bone disease characterized by reduced bone mass and destruction of bone microstructure. It is susceptible to genetic regulation. The genetic interaction of multiple gene mutations makes it highly heritable, and osteoporosis has become the main burden of today's aging society. An increasing number of studies indicate the close relationship between oestrogen receptor gene polymorphisms and osteoporosis. ERα and ERβ are the two main subtypes of estrogen receptor, which mainly play a role in the nucleus. They regulate the transcription of specific target genes by binding with related DNA regulatory sequences, and can directly stimulate osteoblasts and osteoclasts through their mediated mechanism, thus leading to the decline of bone mineral density and leading to the occurrence of osteoporosis. In order to further explore the estrogen receptor gene polymorphism and the risk of osteoporosis, this review summarizes the correlation between gene polymorphisms at five loci: ERα: PvuII, XbaI, G2014A, and ERβ: AluI, RsaI, with osteoporosis, in order to speculate on potential developments in the prevention and treatment of osteoporosis. |
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