Study on the correlation of estrogen receptor gene polymorphism to bone mineral density of radius in Chinese Han postmenopausal women in Beijing

目的 研究雌激素受体（ER）基因多态性在北京地区汉族绝经后妇女中的分布及其与骨密度的相关性。方法 对绝经1～4年、年龄49～55岁未行激素替代治疗且无对骨密度有影响疾病的健康绝经后北京市区汉族妇女99例，采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法测定ER基因的Xba Ⅰ和Pvu Ⅱ酶切多态性，用双能X线吸收测量法检测桡骨骨密度（以骨密度T-score值表示），方差法分析ER基因多态性与骨密度的关系。结果 ER基因Pvu Ⅱ酶切多态性与尺桡骨松质骨（尺桡骨远端）、密质骨（尺桡骨近端）的骨密度无相关性(P>0.05)，而ER基因Xba Ⅰ酶切多态性与尺、桡骨松质骨、密质骨的骨密度有相关性(P<0.05)；XX基因型骨密度值最低: 密质骨为-1.55±0.37、松质骨为-2.54±0.38，xx基因型骨密度值最高：密质骨为-0.95±0.24、松质骨为-1.74±0.16。结论 ER基因Xba Ⅰ酶切多态性与尺、桡骨松质骨、密质骨的骨密度间显著相关，不同个体的基因差异可能影响骨质疏松症的发生、发展。Objective To investigate the distribution of estrogen receptor (ER) gene polymorphism in postmenopausal Han women in Beijing as well as its correlation with bone mineral density (BMD)of radius. Methods Xba Ⅰ, and Pvu Ⅱ polymorphism of ER gene were studied by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 99 healthy postmenopausal Han women. BMD of distal (spongy bone) and proximal (compact bone) radius were determined by dual-energy X-ray absorptiometry (DEXA) as well. The relationship between BMD and polymorphism of ER gene was analyzed by variance analysis. Results Pvu Ⅱ polymorphism of ER gene is not associated with BMD of both sites of radius (P>0.05); while Xba Ⅰ polymorphism of ER gene is significantly associated with BMD spongy and compact bone of radius (P<0.05). Women with XX genotype have the lowest BMD T-score of -1.55±0.37 for the compact and -2.54±0.38 for the spongy, and those with xx genotype have the highest BMD T-score of -0.95±0.24 for compact and -1.74±0.16 for spongy. Conclusion There is a significant correlation of Xba Ⅰ polymorphism of ER gene with BMD of distal and proximal radius. It is indicated that the difference in ER genotypes among individuals might influence the development of osteoporosis.PubMed中文核心期刊要目总览(PKU)中国科学引文数据库(CSCD)0140-423