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目的 研究上海市绝经后妇女骨质疏松症与雌激素受体 α(ER α)基因PvuⅡ、XbaⅠ多态性及相关因素的关系。 方法 按骨密度 (BMD)值将上海市 5 17例绝经后汉族妇女分为骨质疏松组 (2 4 4例 )和对照组 (2 73例 ) ,用PCR 限制性片段长度多态技术检测ER α基因PvuⅡ、XbaⅠ多态性。 结果 ER α基因PvuⅡ、XbaⅠ等位基因和基因型频率分布在两组间差异无显著性。在全部受试者中 ,2～ 4腰椎 (L2～ 4)、股骨颈 (Neck)、大转子 (Troch)及Ward’s三角 (Ward’s)的BMD值与体重呈正相关 (r为 0 4 5 3、0 5 34、0 5 0 4、0 35 1,均为P <0 0 0 1) ,与年龄、绝经年限负相关 (P <0 0 0 1) ;职业与股骨近端各部位BMD值呈正相关 (P <0 0 1) ;月经初潮年龄、身高分别与L2～ 4及股骨颈BMD值负相关 (P <0 0 5 ) ;ER α基因PvuⅡ多态性与股骨近端各部位BMD值相关 (P <0 0 5 ) ,但骨质疏松组和对照组均未发现PvuⅡ、XbaⅠ多态性与BMD值的关联 ,PvuⅡ、XbaⅠ多态性频率分布在两组间差异无显著性 (P >0 0 5 )。 结论 ER α基因PvuⅡ多态性、年龄、身高、体重、月经初潮年龄、绝经年限和职业与绝经后妇女BMD值相关 ,但ER α基因PvuⅡ、XbaⅠ多态性不是上海绝经后妇女骨质疏松症的遗传易感因子。
Objective To study the relationship between osteoporosis and the PvuⅡ, Xba Ⅰ polymorphisms of estrogen receptor α (ERα) gene and related factors in postmenopausal women in Shanghai. Methods Five hundred and seventy postmenopausal Han women in Shanghai were divided into osteoporosis group (n = 244) and control group (n = 73) according to the BMD value. PCR-restriction fragment length polymorphism α gene Pvu Ⅱ, Xba Ⅰ polymorphism. Results There were no significant differences between the two groups in the frequencies of PvuⅡ, XbaⅠ alleles and genotypes of ERα gene. In all subjects BMD values of 2 to 4 lumbar spine (L2-4), neck, Troch and Ward’s were positively correlated with body weight (r = 0 453,0 5 34,0 5 0 4,0 35 1, all P <0 0 01), negatively correlated with age and menopause (P 0 01). There was a positive correlation between occupation and BMD of proximal femur P <0.01). The age and height of menarche were negatively correlated with L2 ~ 4 and BMD of femoral neck (P <0.05), respectively. The Pvu Ⅱ polymorphism of ERα gene was correlated with BMD of proximal femur <0.05). However, there was no association between PvuII and XbaI polymorphism and BMD in osteoporosis group and control group. The frequency distribution of PvuII and XbaI polymorphism was not significantly different between the two groups (P> 0 0 5). Conclusion The Pvu Ⅱ gene polymorphism of ER α gene is related to age, height, weight, menarche age, menopause duration and BMD of occupational and postmenopausal women. However, the Pvu Ⅱ and Xba Ⅰ polymorphisms of ER α gene are not the predictor of osteoporosis in postmenopausal women in Shanghai Of the genetic susceptibility factor.