北京地区女性峰值骨密度与雌激素受体基因多态性的相关因素分析

The relationship between estrogen receptor allelic variants and peak bone mineral density in Beijing women

目的 探讨影响北京女性峰值骨密度 (peakbonemineraldensity ,PBMD)和雌激素受体 (estro genreceptor,ER)基因多态性的关系。方法 于 2 0 0 0年 3月～ 2 0 0 1年 7月 ,选择健康志愿者 1 5 9人 ,①使用DEXA (HologicQDR4 5 0 0 )测量志愿者腰椎和髋部BMD ;②从志愿者静脉全血 (5～ 1 0ml)中提取DNA ,应用PCR -限制性片段长度多态性法 (restrictionfragmentlengthpolymorphisms,PCR -RFLP)对ER进行多态性分析 ;③分析PBMD与身高、体重、体重指数 (BMI)及ER基因多态性的相关关系。结果 ①腰椎BMD和身高、体重及BMI呈正相关 ,髋部股骨颈 (Neck)位点BMD值和体重呈正相关 ,而髋部其余位点BMD值和BMI呈正相关 ,且Ward三角与ERPvuⅡ酶切位点有相关性 ;②ER基因PvuⅡ酶切结果显示在髋部Ward三角 ,PP基因型组的BMD明显低于Pp及pp基因型组 ,差异有显著性 ;③ERPvuⅡ和XbaI酶切位点的联合分析 ,PPxx基因型组BMD值在各位点均较高 ,PPXx基因型组BMD值在各位点均最低 ,在髋部股骨颈、粗隆间差异有显著性。在Ward三角位点 ,Ppxx基因型BMD值最高 ,与PPXx及PPXX基因型组有显著性差异 ,PPxx基因型组BMD值也较高。结论 ①体重及或BMI是女性PBMD重要保护因素之一 ;

Objective To investigate the relationship between the peak bone mineral density and estrogen receptor allelic variants in Chinese Han young women. Methods From March 2000 to July 2001, one hundred and fifty-nine young healthy women (25-37 year-old) were voluntarily enrolled in the study. ① BMD was measured using DXEA (Hologic QDR-4500) at lumbar and hip.② The polymorphisms of ER gene were detected by PCR-RFLPs (restriction fragment length polymorphisms). ③ The relationship between BMD and the polymorphisms of ER gene, as well as some other characteristics, were analyzed. Results ① Lumbar BMD was positively related to height, weight and body mass index (BMI), whereas, the femoral neck BMD only to weight, and the BMD of other sites of hip to BMI. ② In Ward's triangle,BMD of the subjects with PP genotype was significantly lower than those with Pp and pp genotypes. ③ There was no significant difference among three XbaI polymorphism groups. ④ BMD of the subjects with PPxx genotype was higher than those of other genotypes, and the lowest BMD was in the subjects with PPXx genotype.The subjects with PPxx genotype presented significantly higher BMD than those with PPXx and PpXX genotypes at femoral Neck, and also higher than those with PPXx , PpXX , PpXx , ppXx and ppxx genotypes at Inter site. But at ward's triangle, BMD of the subjects with Ppxx and ppXx was significantly higher than those with PPXx and PPXX . Conclusions ① Body weight and BMI play important roles in PBMD of Chinese Han women. ② Our data suggest that genetic variation at the ER gene may affect the attainment and maintenance of peak bone mass in young women.