【摘要】 目的探讨雌激素受体(ER)基因多态性与2型糖尿病患者骨量的关系。方法 采用聚合酶链反应限制性片段长度多态性(PCR-RFLP)技术检测104例2型糖尿病患者和60例健康人的ER基因型(PvuⅡ、Xba Ⅰ位点),并用双能X线吸收法测量腰椎及股骨近端骨密度(BMD)。同时测定血清雌二醇、睾酮、胰岛素、糖化血红蛋白水平。结果2型糖尿病患者骨密度与基因型、雌二醇、睾酮、胰岛素水平密切相关,第2,3腰椎骨密度还与BMI显著相关;健康人骨密度只受基因型与性激素影响。女性2型糖尿病患者p等位基因频率低于健康女性。男或女性2型糖尿病患者XX基因型频率、X等位基因频率均高于健康人。糖尿病组男性X等位基因频率高于糖尿病女性,健康人X等位基因频率无性别差异。结论 ER基因多态性与2型糖尿病患者骨密度密切相关,p、X等位基因可能是骨量的保护基因,性激素、胰岛素水平与2型糖尿病骨密度正相关。更多还原

【Abstract】 Objective To investigate the relationship between polymorphism of ER gene and bone mass in type 2 diabetes mellitus and analysize the difference between men and women. Methods The polymerase chain reaction restriction fragment length polymorphism(PCR-RFLP) was used to detect estrogen receptor(ER) genotype in 104 type 2 diabetic patients and 60 normal controls. Bone mineral density (BMD) of lumbar vertebrae (L2-L4) and upper part of femur (neck, Ward’s triangle and trochanfer) were measured by dual X-ray absorptiometry (DEXA). At the same time, estradiol, testosterone, fasting insulin and HbAic were measured. Results Multiple stepwise regression analysis showed that the BMD of lumbar vertebrae (L2-L4) > neck of femur and Ward’s triangle was associated significantly with the polymorphism of ER gene, serum estradiol, testosterone and fasting insulin in diabetes mellitus ( P < 0.01,0.05,0.05, respectively) , and a significant correlation was found between body mass index (BM1) and BMD of L3-L4 in diabetic patients. There was also a significant correlation between the polymorphism of ER gene and BMD of lumbar vertebrae 2-4 (P = 0.001) , femoral neck ( P = 0.001) , and Ward’s triangle ( P = 0.001) in control group. There was no significant difference in the frequency of Pvu Ⅱ genotype and alle between male diabetic patients and controls; the frequency of alle in female diabetic patients was lower than that in controls while there was significant difference in frequency of X alle and genotype by Xba Ⅰ . The frequency of X alle and XX genotype in diabetics was higher than that in normal controls; there was no sexual difference between the two groups. The frequency of X alle in male diabetics was higher than that in female diabetics; also there was no sexual difference between the two sexes of controls. Conclusions There is a significant association of bone mass of every site with polymorphism of ER gene, and p, X allel may be protective factors for bone mass. The levels of serum insulin, estradiol and testosterone also contribute to bone mass in both diabetic patients and normal controls.更多还原