福州地区老年男性雌激素受体α基因多态性与骨密度关系:150例数据分析

Relationship between polymorphism of estrogen receptor alpha gene and bone mineral density in Fuzhou elderly male: Analysis of 150 cases

背景：关于男性骨质疏松症候选基因的研究，不同国家和地区的学者针对不同的种族和人群，得出的结论并不一致。目的：分析福州地区汉族老年男性雌激素受体α基因XbaⅠ及PvuⅡ多态性分布，进一步研究其与骨密度的关系。设计、时间及地点：骨密度及基因型相关性分析，于2007-02/2008-09在福建省中医药研究院门诊部及中医药管理局经络三级实验室完成。对象：福州地区60岁以上汉族男性150例，年龄（68.92±5.33）岁，体质量（66.47±9.08） kg，体质量指数（24.23±3.12） kg/m2。方法：双能X射线骨密度仪检测受试者正位L2~4、左侧股骨颈、大转子和Ward’s区骨密度，应用聚合酶链式反应-限制性片段长度多态性（PCR-RFLP）检测雌激素受体α基因XbaI及PvuⅡ多态性。主要观察指标：骨密度；雌激素受体α基因型；年龄；身高；体质量。结果：150例受试对象中，雌激素受体α XbaI基因型分别为XX型10例（占6.7%）、Xx型56例（占37.3%），xx型84例（占56.0%），X等位基因频率为25.3% 、x等位基因频率为74.7% ；PvuⅡ基因型分别为PP型18例（占12.0%）、Pp型78例（占52.0%），pp型54例（占36.0%），P等位基因频率为38.0% 、p等位基因频率为62.0% ；基因型分布均符合Hardy-Weinberg定律。分析基因型与骨密度的关系显示：与XX基因型相比，xx基因型人群在Ward’s区、大转子具有较高骨密度值，差异具有显著性 （P 分别为0.0192及0.087）；xx基因型人群在大转子比Xx基因型具有较高骨密度值 （P 〈 0.05）；PvuⅡ多态性各基因型间骨密度值均无差异。结论：雌激素受体α基因XbaⅠ多态性与福州地区汉族老年男性骨密度相关，x基因是骨密度保护因素。

BACKGROUND： The studies on the candidate gene of male osteoporosis achieve different conclusions from different races and populations in varied countries and areas. OBJECTIVE： To investigate the prevalence of estrogen receptor alpha gene （ER-α） XbaI and PvuⅡ polymorphism in Fuzhou elder Han male subjects, and to study the association between XbaⅠ, PvuⅡ polymorphism of ER-α gene and bone mineral density （BMD）. DESIGN, TIME AND SETTING： Relevance analysis between BMD and genotypes was conducted in the clinic of Fujian Institute of Chinese Medicine and Level-Three Laboratory of Meridian of Administration Bureau of Traditional Chinese Medicine from February 2007 to September 2008. PARTICIPANTS： A total of Han male subjects were selected from Fuzhou city, they aged 60 years old or more at a range of （68.92±5.33） years, and their body mass index was （24.23±3.12） kg/m2. METHODS： BMD of lumbar spine L2-4, left femoral neck, trochiter and Ward’s triangle were measured by dual-energy X-ray absorptionmetry. The genotype of ER-α gene was detected by polymerase chain reaction-restriction fragment length polymorphism. MAIN OUTCOME MEASURES： BMD; genotypes of ER-α; age; height; weight. RESULTS： The distribution of ER-α XbaⅠ genotype in 150 males was XX genotype 10 （6.7%）, Xx 56 （37.3%）, xx 84 （56.0%） and the X allelic gene frequencies reached 25.3% while x was 74.7%. The distribution of ER-α PvuⅡ genotype was PP genotype 18 （12.0%）, Pp 78 （52.0%）, pp 54 （36.0%）, respectively. The P allelic gene frequencies reached 38.0% while p was 62.0%. Both distributions followed the Hardy-Weinberg equilibrium. The xx group had significant higher BMD of trochiter and Ward’s triangle compared with XX group （P = 0.0192 and 0.087, respectively）. A higher BMD of trochiter was observed in xx group than Xx group （P 〈 0.05）. There was no difference in BMD of lumbar spine, femoral neck, trochiter and Ward’s triangle among three genotypes of PvuⅡ. CONCLUSION： The XbaI gene polymorphism of ER-α is related with BMD in Fuzhou elderly male, and x gene may be a beneficent factor of BMD.