目的　探讨糖尿病患者雌激素受体 (ER)基因多态性与骨密度的关系。方法　采用聚合酶链反应 限制性片段长度多态性 (PCR RFLP)技术 ,对 14 0例糖尿病患者和 6 0例健康人的ER基因 (PvuⅡ、XbaⅠ位点 )进行分型 ,并计算基因分布频率 ,同时采用双能X线吸收法测量腰椎及股骨近端骨密度。结果　糖尿病患者PP、xx基因型频率明显高于健康对照组 (P <0 .0 1) ,pp、XX基因型频率明显低于健康对照组 (P <0 .0 1)。 1型糖尿病组骨量减少或骨质疏松的发生率明显高于健康对照组和 2型糖尿病组 (P <0 .0 1)。糖尿病患者、健康对照组ER基因多态与腰椎、股骨颈、Ward′s三角区骨密度之间均存在显著相关性 (P =0 .0 0 1)。结论　健康对照组与糖尿病患者ER基因型分布差异有显著性 ,ER基因型与骨密度相关 ,p、X等位基因对骨量具有保护作用 ;胰岛素水平与骨密度亦存在相关性 Objective To investigate the relationship between estrogen receptor (ER) gene polymorphism and bone mineral density in diabetic patients. Methods The polymerase chain reaction restriction fragment length polymorphism (PCR RFLP) technique was used to genotype the ER gene (PvuⅡ, XbaⅠ) in 140 diabetics and 60 healthy people and to calculate the frequency of gene distribution At the same time, dual-energy X-ray absorptiometry was used to measure the proximal and distal femur BMD. Results The frequency of genotype PP and xx in diabetic patients was significantly higher than that in healthy controls (P <0.01). The frequencies of genotypes pp and XX were significantly lower than those in healthy controls (P <0.01). The incidence of osteopenia or osteoporosis in type 1 diabetic patients was significantly higher than that in healthy controls and type 2 diabetic patients (P <0.01). There was a significant correlation between ER gene polymorphism and BMD of lumbar vertebra, femoral neck and Ward’s trigone (P = 0.010) in diabetic patients and healthy controls. Conclusion There is significant difference in ER genotype between healthy control group and diabetic patients. ER genotype is related to bone mineral density, and p and X alleles have a protective effect on bone mass. There is also a correlation between insulin level and bone mineral density