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背景:维生素D受体基因5’端启动子区外显子2上存在Fok1酶切位点多态性,这一位点的多态性影响维生素D受体氨基酸的结构,与骨密度变化相关。目的:分析老年男性维生素D受体基因Fok1多态性与骨密度的关系。设计:病例-对照,对比观察。单位:解放军总医院老年医学研究所和解放军第二炮兵总医院内分泌科。对象:选择2002-01/06解放军总医院及解放军第二炮兵总医院门诊就诊的26例老年男性骨质疏松患者为骨质疏松组,平均年龄(70±5)岁。腰椎骨密度均低于峰值骨密度2.0～2.5个标准差。选择同期本院健康体检者老年男性66名为对照组,平均年龄(73±4)岁。纳入对象均对检测项目知情同意,且相互无血缘关系,汉族,北京地区居民。方法:采用聚合酶链反应限制性片段长度多态性分析技术确定维生素D受体基因Fok1基因型,分析老年男性维生素D受体基因Fok1基因型的分布情况。主要观察指标:两组老年男性维生素D受体基因Fok1基因型分布情况。结果:老年男性骨质疏松患者26例及健康老年人66名均进入结果分析。维生素D受体基因Fok1多态位点基因型分别为FF,Ff,ff基因型。对照组维生素D受体基因Fok1多态性FF,Ff,ff基因型频率与骨质疏松组(42%,42%,15%;15%,50%,35%)比较,差异明显(χ2=12.078,P<0.01),等位基因F,f频率与骨质疏松组(64%,36%;40%,60%)比较,差异也明显(χ2=8.232,P<0.01)。结论:正常老年男性与骨质疏松症老年男性患者的维生素D受体基因5’端启动子区Fok1酶切位点多态性差异明显。
BACKGROUND: Fok1 restriction site polymorphism exists in exon 2 of the 5 ’end of the vitamin D receptor gene. The polymorphism of this site affects the amino acid structure of vitamin D receptor and is related to changes in bone mineral density . Objective: To analyze the relationship between vitamin D receptor gene Fok1 polymorphism and bone mineral density in elderly men. Design: Case-Control, Comparative Observation. Unit: Institute of Geriatrics, PLA General Hospital and the PLA Second Artillery General Hospital Department of Endocrinology. PARTICIPANTS: Twenty-six elderly osteoporosis patients from the General Hospital of People’s Liberation Army PLA and the Second Artillery General Hospital of PLA were selected as the osteoporosis group from January 2002 to January 2006 with an average age of 70 ± 5 years. Lumbar bone mineral density were lower than the peak bone mineral density of 2.0 to 2.5 standard deviations. Sixty-six elderly men in our hospital were selected as the control group, mean age (73 ± 4) years. Subjects involved in the informed consent of the test items, and mutual non-kinship, Han, Beijing residents. Methods: Polymerase chain reaction restriction fragment length polymorphism analysis was used to determine the Fok1 genotype of vitamin D receptor gene and the distribution of vitamin F receptor gene Fok1 genotype in elderly males. MAIN OUTCOME MEASURES: Distribution of vitamin F receptor gene Fok1 genotypes in two groups of elderly men. Results: 26 elderly osteoporosis patients and 66 healthy elderly patients were involved in the result analysis. The Fok1 polymorphism site of vitamin D receptor gene genotypes were FF, Ff, ff genotype. The frequencies of FF, Ff and ff genotypes of vitamin F receptor gene Fok1 polymorphism in control group were significantly different from those in osteoporosis group (42%, 42%, 15%; 15%, 50%, 35%) (χ2 = 12.078, P <0.01). The frequency of allele F and f was also significantly different from that of the osteoporosis group (χ2 = 8.232, P <0.01) compared with the osteoporosis group (64%, 36%; 40%, 60%). Conclusion: There are significant differences in Fok1 polymorphism at the 5 ’end of the vitamin D receptor gene between normal male and osteoporosis elderly men.