雌激素受体基因多态性与青春期少女骨骼发育状况相关性研究

目的了解青春期女性中雌激素受体(ER-α)基因多态性的分布频率;探讨其对少女骨密度(BMD)和骨转换生化指标的影响,及是否存在弱势ER基因型别的群体。方法选取年龄12～14岁、无相关疾病的健康志愿者158名。采用(1)聚合酶链反应-限制性片段长度多态性法对ER-α进行多态性分析;(2)双能X线吸收仪测量全身及前臂的BMD;(3)进口酶联免疫检测试剂盒测定骨转换生化指标(骨钙素BGP、骨碱性磷酸酶BAP、抗酒石酸酸性磷酸酶TRACP)和钙调激素(活性维生素D、雌二醇)水平。分析ER-α基因多态性与机体BMD及骨转换生化指标的相关性。结果(1)各骨转换生化指标在ER-α基因型别间差异无统计学意义,但其在PvuⅡ的各基因型别间表现出pp>PP>Pp的趋势。在XbaⅠ各基因型别间未见明显趋势。Px单倍体组与non-Px组间也未显示出差异(P> 0．05);(2)未见ER-α基因型别间全身及前臂BMD的差异有统计学意义(P>0．05),non-Px单倍体组各部位的BMD普遍大于Px单倍体组,但两组间的差异无统计学意义(P>0．05)。结论中国青春期少女的ER-α基因多态性未显示出对其骨骼生长发育(BMD和骨转换生化指标)有明显影响,该基因型可能不是主要影响该人群的遗传因素。

Study on the association between estrogen receptor-α gene polymorphisms and pubertal skeletal developmental status in China

OBJECTIVE: To investigate the association between estrogen receptor-alpha (ER-alpha) gene polymorphisms, pubertal bone mineral density (BMD) and bone turnover markers, to better understand the frequencies of ER-a genotypes. METHODS: The ER-alpha Pvu II and Xba I genotypes were determined by PCR-RFLP in 158 healthy adolescent girls (12-14 years old) while BMD was measured by dual-energy X-ray absorptiometry (DEXA). The bone turnover markers (BAP, BGP, TRACP) and calcium adjust hormone (25-OH-VitD, E2) were detected by ELISA. The relationship among BMD, bone turnover markers, and polymorphisms of ER-a were examined. RESULTS: (1) Although the bone turnover markers had a trend in ER-alpha Pvu II genotypes as pp>PP>Pp but no significant difference was found (P > 0.05). There were no significant differences found among Xba I genotypes and between Px haplotype and non-Px haplotype. (2) No association was noticed between ER-a genotype and BMD at any site of the forearm and the whole body. Compared with non-Px haplotype, the Px haplotype had lower BMD, but there was no significant difference noticed (P > 0.05). CONCLUSION: ER-alpha gene Pvu II and Xba I polymorphism seemed not potentially influence on BMD and bone turnover markers in the pubertal girls in Beijing, suggesting that it might not be the major genetic factor regarding this population.