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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 distribution of estrogen receptor (ER) gene polymorphism and its relationship with bone mineral density (BMD) in postmenopausal women in Anhui province. Methods A total of 288 healthy postmenopausal women in Hefei, Anhui Province were randomly selected. BMD of the lumbar spine and femoral neck and the greater trochanter were measured by dual energy X-ray absorptiometry (DEXA). PCRRFLP (polymerase chain reaction restriction fragment Length polymorphism) analysis of ER gene polymorphisms, and analyze the correlation. Results The frequency of ER genotype distribution in postmenopausal women in Anhui province was 13.2%, P (45.8%), pp (40.9%), XX (5.21%), Xx (31.6%) and xx PxX (23.3%), Ppxx (25%), ppxx (34.7%), PPXX (3.8%), PPxx , PpXX and ppXx were not detected. Pvu Ⅱ polymorphism was associated with BMD of lumbar spine in postmenopausal women. BMD of lumbar spine of PP genotype was significantly lower than that of pp and Pp genotypes (P <0.05). The p allele of ER gene was a genotype benefiting bone mass. There was no significant correlation between Xba Ⅰ polymorphism and BMD in various parts of postmenopausal women (P> 0.05). The association of PvuII and XbaI polymorphisms with postmenopausal women BMD showed that the BMD of lumbar spine in women with Px haplotype was significantly lower than that in women without this haplotype (P <0.01). Conclusions PVu Ⅱ polymorphism of ER gene is correlated with BMD of lumbar spine in postmenopausal women. BMD of lumbar spine of women with PP genotype is decreased. However, ER gene with Px haplotype may have adverse effect on BMD.