绝经后妇女雌激素受体基因多态性与骨和脂代谢的相关性研究  

Relationship of estrogen receptor gene polymorphism and bone metabolism and lipid metabolism in post-menopausal women

作　　者：张秀珍[1] 李颖[1] 钱国锋[1] 韩峻峰[1] 

机构地区：[1]同济大学附属同济医院内分泌科,上海200065

出　　处：《中国骨肿瘤骨病》2005年第4期229-233,共5页Chinse Journal Of Bone Tumor And Bone Disease

基　　金：国家自然科学基金资助项目(30070357)

摘　　要：目的研究绝经后妇女雌激素受体(ER)基因PvuII、XbaI限制性片段长度多态性与骨和脂代谢的关系。方法随机选取57名已排除影响骨代谢、脂代谢疾病的绝经后妇女,采空腹血和晨尿,用PCR-RFLP法对ER基因多态性进行分析,DEXA测定腰椎正侧位及股骨骨密度,同时检测血骨钙素、尿I型胶原N末端肽和血脂指标。结果基因型分析xx29例,Xx24例,XX4例。xx组股骨干(SHAFT)骨密度明显低于Xx组(P<0·05)。XbaI限制性片段长度多态性与股骨干骨密度相关(r=0·367,P=0·039);XX组骨钙素高于xx(P=0·041)和Xx(P=0·011)组。apoA1含量和A1/B比值在xx、Xx、XX三组呈递增,各组间差异有显著性(P<0·05)。脂蛋白a[Lp(a)]与股骨骨密度(除SHAFT外)呈负相关。结论ER基因XbaI-RFLP是影响绝经后妇女骨和脂代谢的重要因素;X基因型可维持股骨骨量,xx基因型与低载脂蛋白A1(apoA1)含量和A1/B比值相关,Lp(a)也影响股骨骨密度。Objective To study the relationship between PvuII and XbaI restriction fragment length polymorphism （RFLP） of estrogen receptor （ER） gene and bone metabolism and lipid metabolism in the postmenopausal women. Methods 57 Chinese postmenopausal women who had no disorders of the bone and lipid metabolism were chosen randomly. PvuII and XbaI RFLP of estrogen receptor gene were detected by PCR - RFLP. BMD was measured at lumbar - spine and femur by DEXA. At the same time, biochemical markers, such as osteocalcin, NTx and TC, TG, HDL, LDL, apoA1 , apoB, Lp （a） were measured. Results The BMD at femoral shaft of xx genotype was significantly lower than that of Xx genotype（P 〈 0.05 ） . XbaⅠ - RFLP was correlated with BMD at femoral shaft（ r = 0. 367, P = 0. 039）. The BMD of xx genotype at femoral shaft was significantly lower than that of Xx genotype（P 〈0.05） . XbaⅠ - RFLP was correlated with BMD at femoral shaft（r =0.367,P =0.039）. Serumlevel of the osteocalcin was higher in XX genotype than that of xx （P =0. 041 ） and Xx （P =0. 011 ） genotypes. Serum level of apoA1 and ratio of A1/B were gradiently increased in the genotypes of xx,Xx and XX, and the difference of apoA1 and A1/B was significant（ P 〈 0.05 ）. The blood level of Lp （a） was negative correlation with femoral BMD except SHAFT. Conclusions XbaI - RFLP of ER gene was major factor to affect bone metabolism and lipid metabolism in postmenopausal women. X genotype could help preserving bone mass of femur and x genotype related with lower apoAland A1/B, Lp （a） also affected BMD of femur.

关 键 词：绝经后妇女 雌激素受体 基因多态性 骨代谢 脂代谢 受体基因多态性 限制性片段长度多态性 ER基因多态性 基因型分析 XbaⅠ 

分 类 号：R58[医药卫生—内分泌]