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目的了解维生素D受体(vitaminDreceptor,VDR)基因ApaⅠ多态性与男性骨量的关系。方法PCR-限制性片段长度多态性技术检测上海市388例健康汉族男性VDR基因ApaⅠ多态性,并用双能X线吸收仪检查上述人群腰椎1～4(L1～4)和股骨近端股骨颈(Neck)、大转子区(Troch)及Ward’s三角部位骨密度(bonemineraldensity,BMD)和骨矿含量(bonemineralcontent,BMC)。结果ApaⅠ多态性等位基因频率分布符合Hardy-Weinberg定律,基因型频率分布依次为aa(48.1%)、Aa(44.2%)和AA(7.7%)。协方差分析显示,在所有388例受试者中和160例60岁及以下亚组中,ApaⅠ基因型与L1～4和股骨近端各部位BMD、BMC值均无相关性;在228例60岁以上亚组中,ApaⅠ基因型与L1～4、Neck和Ward’s三角部位BMD、BMC值均相关(P<0.05,P<0.01),AA基因型平均BMD、BMC值高于Aa和aa基因型(P<0.05,P<0.01),但是ApaⅠ基因型与Troch部位BMD和BMC值无相关性。结论VDR基因ApaⅠ多态性与60岁以上男性骨量相关,AA基因型具有较高的骨量,提示ApaⅠ多态性可能影响老年男性的松质和皮质骨骨量的丢失。
Objective To investigate the relationship between ApaⅠ polymorphism of vitamin D receptor (VDR) gene and bone mass in males. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect ApaⅠ polymorphism of VDR gene in 388 healthy Han Chinese males. The lumbar spine 1-4 (L1-4) and femoral proximal femur Neck, Troch and Ward’s triangle bone mineral density (BMD) and bone mineral content (BMC). Results The frequency distribution of Apa Ⅰ polymorphism conformed to Hardy-Weinberg law. The frequency distribution of genotypes was aa (48.1%), Aa (44.2%) and AA (7.7%). Covariance analysis showed no association between Apa I genotypes and BMD and BMC values in L1-4 and proximal femur in all 388 subjects and in 160 patients 60 years of age and below; in 228 patients with 60 The genotype of ApaⅠ was correlated with the BMD and BMC values in L1 ~ 4, Neck and Ward’s triangle (P <0.05, P <0.01). The average BMD and BMC values of AA genotype were higher than those of Aa and aa genotypes (P <0.05, P <0.01). However, there was no correlation between Apa I genotype and BMD and BMC in Troch. Conclusions ApaⅠ polymorphism of VDR gene is associated with bone mass in males over the age of 60, and AA genotype has high bone mass. It suggests that Apa Ⅰ polymorphism may affect the loss of bone mass in the aged and the cortical bone of aged males.