绝经期妇女雌激素受体基因多态性与骨密度的相关性研究

目的 研究雌激素受体（ER）基因PvuⅡ、XbaⅠ限制性片段长度多态性与绝经后妇女骨密度、骨代谢生化指标的关系。方法 随机选取57名已排除影响骨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、股骨骨密度，同时检测血骨钙素、尿NTX和尿肌酐。结果 ER基因型pp,Pp,PP分布频率为26．3％、50．8％、22．8％；xx,Xx,XX分布频率为50．8％、42．1％、7．1％。xx组基因型妇女体重偏高，但体重指数各组无明显差异；xx组股骨SHAFT骨密度低于Xx和XX组。XbaⅠ限制性片段长度多态性与股骨SHAFT骨密度相关；XX组骨钙素高于xx和Xx组。PvuⅡ各基因型骨密度、骨代谢指标无明显差异。结论 ER基因XbaⅠ－RFLP是绝经后骨代谢的一个影响因素,X基因型对股骨骨量的维持可能有一定作用，这可能与其影响骨转移有关。

Relationships of Estrogen Receptor Gene Polymorphism with Bone Metabolism in Postmenopausal Women

Objective To study the relationships among Pvull, Xbal restriction fregment length polymorphism (RFLP) of estrogen receptor (ER) gene, bone mineral density (BMD) and bone turnover in postmenopausal women.Methods 57 Chinese postmenopausal women who had no diseases affecting bone metabolism were chosen randomly,and their blood and urine samples were collected.Pvull and Xbal RFLP of estrogen receptor gene were detected by RCP?RFLP.BMD was measured at lumbar spine and proximal femoral by DEXA.At the same time,biochemical markers,such as osteocalcin,NTX were measured.Results The frequencies of ER genotype were as follows:pp(26.3%), Pp(50.8%),PP(22.8%) and xx(50.8%),Xx(42.1%),XX(7.1%).The weight of XX genotype group was heavier than the other two groups,but the difference of bone mass index was not significant.The BMD at femoral shaft of xx genotype was significantly lower then that in Xx and XX genotype.Xbal RFLP was correlated with BMD at femoral shaft.Blood osteocalcin was higher in XX genotype than in xx and Xx genotypes.There was no difference found in Pvull genotype.Conclusion Xbal RFLP of ER gene is a major factor affecting bone metabolism in postmenopausal women;X genotype may help preserving bone mass of femoral,which might be acquired by affecting bone turnover.