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安徽地区绝经后妇女雌激素受体基因多态性与骨密度的相关性研究 被引量:6

Relationship between polymorphism of estrogen receptor gene and bone mineral density in postmenopausal women in Anhui
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摘要 目的探讨安徽地区绝经后妇女雌激素受体(ER)基因多态性的分布及其与骨密度的相关性。方法随机选择288名安徽合肥地区健康绝经后妇女,运用双能X线骨密度吸收法(DEXA)测定腰椎和股骨颈、大转子骨密度(BMD),并采用PCRRFLP(聚合酶链反应限制性片断长度多态性)法分析ER基因多态性,并分析其相关性。结果安徽地区绝经后妇女ER基因型分布频率PP(13.2%)、Pp(45.8%)、pp(40.9%),XX(5.21%)、Xx(31.6%)、xx(63.2%),联合PvuⅡ和XbaⅠ这两种基因型后得到:PPXX(5.6%),PPXx(3.8%),PPxx(6.3%),PpXX(1.4%),PpXx(23.3%),Ppxx(25%),ppxx(34.7%),未检测到ppXX及ppXx型。PvuⅡ多态性与绝经后妇女腰椎BMD相关,PP基因型腰椎BMD显著低于pp和Pp基因型(P<0.05),ER基因p等位基因是一种有益于骨量的基因型。XbaⅠ多态性与绝经后妇女各部位BMD间无明显相关性(P>0.05)。联合分析PvuⅡ和XbaⅠ多态性与绝经后妇女BMD相关性发现,有Px单倍型的妇女腰椎部位的BMD显著低于无此单倍型的妇女(P<0.01)。结论ER基因PVuⅡ多态性与绝经后妇女腰椎BMD有相关性,PP基因型妇女腰椎BMD减低,而具有Px单倍型的ER基因可能对BMD有不利影响。 Objective To investigate the estrogen receptor(ER) gene polymorphism in postmenopausal Han women in Anhui as well as its correlation with bone mineral density (BMD) of radius. Methods Pvu Ⅱ and Xba Ⅰ polymorphism of ER gene were studied by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 288 healthy postmenopausal Han women. BMD of lumbar spine, femoral neck, and Troch were measured by dual energy X-ray absorptionmetry( DEXA)as well. The relationship between BMD and polymorphism of ER gene was analyzed by variance analysis. Results The distribution of ER gene polimorphism in postmenopausal Han women in Anhui : PP ( 13.2 % ), Pp ( 45.8 % ), pp ( 40.9 % ), XX ( 5.21% ), Xx ( 31.6 % ), xx (63.2%) ,PPXX(5.6%), PPXx(3.8%), PPxx(6.3%), PpXX(1.4%), PpXx(23.3%), Ppxx(25%), ppxx (34.7%). No ppXX and ppXx genotype was detected. The genotype of ER and BMD of postmenopausal women was analyzed and Xba Ⅰ polymorphism of ER gene was not associated with BMD of both sites of radius ( P 〉 0.05 ), while Pvu Ⅱ polymorphism of ER gene was associated with BMD of lumbar spine (P 〈 0.05). Women with PP genotype have the lowest BMD in lumbar spine. Px hyplotype was associated with BMD of lumbar spine in and women with Px hyplotype had lower BMD in lumbar spine ( P 〈 0.01 ). Conclusions There is significant correlation of Pvu Ⅱ polymorphism of ER gene with BMD of postmenopausal women. The genotypes with Px hyplotype may be harmful to bone mass.
出处 《中国骨质疏松杂志》 CAS CSCD 2006年第4期365-368,362,共5页 Chinese Journal of Osteoporosis
关键词 骨质疏松 绝经后 受体 雌激素 骨密度 Osteoporosis Postmenopausal Receptors Estrogen Bone mineral density
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