维生素D受体基因ApaⅠ多态性与骨质疏松症相关性的研究

The study of the association between ApaⅠpolymorphism of vitamin D receptor gene and osteoporosis

目的研究维生素D受体(vitamin Dreceptor,VDR)基因ApaⅠ多态性与原发性骨质疏松症的相关性。方法应用聚合酶链反应-限制性片段长度多态性分析技术测定山东半岛地区155例骨质疏松患者和113例对照者维生素D受体基因ApaⅠ多态性,比较两组基因型和等位基因分布频率。结果两组基因型和等位基因差异有显著性(P<0.05)。男性及<65岁骨质疏松组同相应对照组相比差异无显著性,女性及≥65岁骨质疏松组同相应对照组相比差异有显著性(P<0.05);≥65岁女性骨质疏松组aa基因型与a等位基因频率高于其对照组。结论山东半岛地区汉族人群中,维生素D受体基因ApaⅠ多态性与原发性骨质疏松症存在相关性,65岁及以上女性a等位基因是易感基因,aa基因型个体存在易感性。

Objective To detect the association between Apa I polymorphism of vitamin D receptor（VDR） gene and primary osteoporosis. Methods The Apa I polymorphism of VDR gene was tested by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） in 155 patients with osteoporosis and 113 healthy beings in Shandong peninsula. The distributing frequency of genotypes and alleles was compared between the two groups as well as the gender and age groups. Results There was statistical significance between the two groups genotypes and allelic genes（ P 〈 0.05 ）. There was no statistical significance of genotype and allele between male case group and male control group, hut statistical significance of genotype and allele was found in female group （P 〈 0.05）. Statistical significance of genotype and allele was not found between the case group（ 〈 65 years old） and the control group （ 〈 65 years old）, but statistical significance was found in the group （ ≥ 65 years old）. The distributing frequency of ＂aa＂ genotype and ＂a＂ allele in female group （ ≥165 years old）was higher than that of the control group. Conclusions Among the Han people in the Shandong peninsula, there was association between the Apa I polymorphism of VDR gene and osteoporosis, ＂a＂ allele of female （≥65 years old） was susceptible gene, and the people with ＂aa＂ genotype were susceptible to osteoporosis.