雌激素受体α和维生素D受体基因多态性与哈尔滨地区绝经后妇女骨密度的关系  

Association of polymorphisms of estrogen receptor-α and vitamin D receptor genes with bone mineral density in Harbin postmenopausal women

作　　者：王秀玲[1] 朱秀英[1] 李旋[1] 聂英昆[2] 

机构地区：[1]哈尔滨医科大学附属第二医院老年病科,哈尔滨150086 [2]哈尔滨医科大学附属第二医院风湿科,哈尔滨150086

出　　处：《中国骨质疏松杂志》2007年第12期864-867,871,共5页Chinese Journal of Osteoporosis

基　　金：黑龙江省自然科学基金(GOIC118-02)

摘　　要：目的探讨哈尔滨市绝经后妇女雌激素受体α(ER-α)基因和维生素D受体(VDR)基因多态性与骨密度的关系。方法对哈尔滨市81例无亲缘关系汉族健康妇女进行PCR-RFLP测定ER-α基因PvuⅡ、XbaⅠ多态性和VDR基因BSMⅠ多态性,用双能X线吸收法测定骨密度(BMD)。结果本研究人群PP、Pp及pp基因型频率分别为13.6%、49.4%、37.0%;XX、Xx及xx基因型频率各为4.9%、40.7%、54.4%;BB、Bb及bb基因型频率各为0%、16.0%、84.0%,t检验分析各基因型与BMD值的关系显示:绝经后妇女中,雌激素受体基因型仅与腰椎骨密度有显著差异。维生素D受体基因型在股骨颈、大转子部位有显著差异。PvuⅡ多态性和BSMⅠ多态性共同作用对骨密度影响更大。结论雌激素受体、维生素D受体基因型分布频率均符合Hardy-Weinberg定律,并且与骨密度有一定的关联,尤其是基因与基因的共同作用与骨密度的关系更为密切。Objective To investigate the association of estrogen receptor-α（ER-α） and vitamin D receptor（VDR） gene polymorphisms with bone mineral density in Harbin postmenopausal women. Methods The ER-aPvu Ⅱ and Xba Ⅰ genotypes and VDR BSM Ⅰ genotypes were determined by PCR-RFLP in 81 unrelated healthy women aged 51 -70 years of Han nationality in Harbin. Bone mineral density （BMD） was measured by dual-energy X-ray absorptiometry. Results Frequencies of ER-aPvu Ⅱ genotype PP, Pp and pp were 13.6%, 49.4% and 37.0% respectively. Frequencies of ER-aXba Ⅰ genotype XX, Xx and xx were 4.9%, 40.7% and 54.4% respectively. Frequencies of VDR BSM Ⅰ genotype BB, Bb and bb were 0%, 16% and 84% respectively. T analysis indicated that a significant association was found between ER genotype and BMD at L2-4 in postmenopausal women and there were significant relationship in bone mineral density between the VDR BSM I genotype at the trochiter and thighbone neck. Pvu Ⅱ genotype and BSM Ⅰ genotype together have significant influence over BMD. Conclusion Hardy-Weinberg equilibrium was evident for both ER-α and VDR gene polymorphisms. Estrogen receptor-aand vitamin D receptor are associated with BMD, especially there were close relation between genes and BMD.

关 键 词：骨质疏松 绝经后 雌激素受体 维生素D受体 基因多态性 骨密度 

分 类 号：R692.5[医药卫生—泌尿科学]