甲状旁腺激素基因多态性与广东地区汉族女性骨密度的关系

The Relationship between Polymorphisms of parathyroid hormone Gene and Bone Mineral Density of Han Nationality Women in Guangdong Area

目的探讨甲状旁腺素(parathyroid hormone,PTH)基因多态性与广东地区部分汉族女性人群骨密度(bone mineral density,BMD)的相关性。方法选取广东成年女性617例,年龄30～75岁,平均(47.82±13.57)岁,用聚合酶链反应及限制性片段长度多态性技术检测外周血白细胞基因组护骨素基因型,采用双能X线吸收测定其腰椎侧位、股骨颈、粗隆间、大转子、ward s三角等部位的骨密度值。结果617例受试对象中,PTH基因BB型447例(72.4%);Bb型157例(25.4%);和bb型13例(2.1%)。绝经前妇女PTH基因多态性频率与绝经后妇女比较差异无统计学意义。无论是整个受试群体,还是将其分为绝经前及绝经后群体,其基因及基因型分布均符合Hardy-Wenbeng平衡定律。经协方差分析校正了年龄、体质指数等因素后(对绝经后妇女人群,同时对绝经年限进行校正)发现,3种不同的基因型相互之间的BMD变化均差异无统计学意义(P>0.05)。结论PTH基因多态性与广东地区汉族妇女人群BMD关系不密切,不能作为筛查和预示骨质疏松症的遗传易感位点。

Objective To Investigate distribution of frequency of parathyroid hormone （PTH） gene polymorphisms in Han Nationality women in Guangdong area and the relationship between PTH phenotypes and bone mineral density （BMD） in young and postmenopausal women. Methods Polymorphism of PTH gene was detected by polymerase chain reaction- restriction fragment length polymorphism （ PCR -RELP） in 617 subjects selected from Han nationality women in Guangzhou area （ aged 30 - 75 years, 47.82 ± 13.57 ）. BMD was measured by dual - energy X - ray absorptionmetry （DEXA） in Lumbar vertebrae, neck of femur, intertrochanteric ridge, trochanter major and Ward＇s triangle area. Results PTH genotype frequencies of BB, Bb and bb were 72.4% , 25.4% and 2.1% , respectively. There was no significant difference in genotypes frequencies between young and postmenopausal women. Furthermore, the frequencies distribution of BstBI alleles followed the Hardy - Weinberg equilibrium. There was no significant difference in the mean BMD among these genotype groups （ p 〉 0. 05 by analysis of Covariance ）. Conclusion PTH gene polymorphisms is not associated with BMD in Han Nationality women in Guangzhou.