骨质疏松症与维生素D受体基因多态性的相关性

背景：骨质疏松是多基因调控疾病,峰值骨量变化和骨量丢失均受遗传因素影响。 目的：通过观察维生素D受体基因 ApaⅠ多态性在山东半岛汉族人群中的分布规律及与骨质疏松的关系,探讨原发性骨质疏松症的遗传易感因素。 方法：选取367名长期居住在山东半岛地区无亲缘关系的汉族人群。将受试者分为骨密度正常组227例,骨质疏松组63例,骨质疏松性骨折组77例。 结果与结论：实验人群维生素D受体基因的基因型频率分布符合Hardy-Weinberg平衡定律(χ² =1.583, P > 0.05)。基因型频率分布依次为aa型占53.1%,Aa型占10.6%,AA型占36.3%。年龄与不同部位骨密度值之间呈负相关(P< 0.01),体质量指数与骨密度值之间呈正相关(P < 0.01),在将年龄和体质量指数进行校正后发现aa基因型在腰椎(P < 0.05)、wards三角(P < 0.05)骨密度较低。运用χ2检验分析骨密度正常组各基因型与骨质疏松性骨折组之间差异无显著性意义(χ² =4.795,  P > 0.05)。结果证实,山东半岛地区汉族人群中,维生素D受体基因ApaⅠ酶切位点多态性与原发性骨质疏松症存在关联,提示维生素D受体基因ApaⅠ酶切位点多态性在决定个体骨质疏松症遗传易感性方面起重要作用。

Correlation between Vitamin D receptor gene polymorphism and osteoporosis

BACKGROUND:Osteoporosis is a polygenic disease, and the peak bone mass and bone mass loss are significantly determined by genetics factors. OBJECTIVE:To determine the genotype frequencies of Vitamin D receptor gene ApaⅠ polymorphism and its association with osteoporosis of han population in Shandong Peninsula, and then to approach the predisposing factors of primary osteoporosis. METHODS:A total of 367 han people coming from unrelated familes who lived in Shandong Peninsula for many years were selected. The subjects were divided into normal bone mineral density group (n=227), osteoporosis group (n=63) and ospteoporosis with osteoporotic fracture group (n=77). RESULTS AND CONCLUSION:The genotype frequency distribution of Vitamin D receptor gene followed the Hardy-Weinberg equilibrium (χ² =1.583, P > 0.05). The frequency distribution of genotypes aa, Aa and AA were 53.1%, 10.6 % and 36.3%, respectively. Body mass index had significant positive correlation with bone mineral density (P < 0.01), while age had significant negative correlation with bone mineral density (P < 0.01). People with aa genotype had significant lower bone mineral density in lumbar spine and ward’s triangle (P < 0. 05) after correcting the body mass index and age. According to χ² test, there was no significant difference between osteoporotic fracture group and normal control group (χ² =4.795,P > 0.05). The experimental results show that there is possible correlation between polymorphisms of restriction sites in Vitamin D receptor gene Apa Ⅰ and bone mineral density in han people of Shandong Peninsula. It indicates that the restriction site polymorphisms of Apa Ⅰ gene may be used as genetic markers in predicting the risk of developing osteoporosis.