维生素D受体基因ApaⅠ多态性与男性骨量的关系  

Association of ApaⅠPolymorphism of Vitamin D Receptor Gene with Bone Mass in Men

作　　者：黄琪仁[1] 章振林[1] 秦跃娟[1] 何进卫[1] 陆敬辉[1] 周琦[1] 胡云秋[1] 李淼[1] 刘玉娟[1] 

机构地区：[1]上海交通大学附属第六人民医院骨质疏松防治中心骨质疏松研究室,上海200233

出　　处：《中国医学科学院学报》2003年第3期254-257,共4页Acta Academiae Medicinae Sinicae

摘　　要：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 association of ApaⅠpolymorphism in vitamin D receptor(VDR)gene with bone mass in men.Methods The VDR ApaⅠgenotype was determined by PCR-restriction fragment length polymorphism(RFLP)in388unrelated healthy men aged46～80years of Han nationality in Shanghai city.Bone mineral density(BMD)and bone mineral content (BMC)at lumber spine1～4(L 1～4 )and at any sites of proximal femur including to femoral neck(Neck),trochanter(Troch)and Ward' s striangle(Ward' s)were measured by duel-energy X-ray absorptiometry.Results Frequencies distribution of VDR ApaⅠgenotype were aa for48.1%,Aa for44.2%and AA7.7%.The allele frequencies of ApaⅠpolymorphism were in Hardy-Weinberg equilibrium.No significant association was found between ApaⅠgenotype and BMD or BMC in group of all population or in subgroup of men below60years.In men above60years,the significant association was found between VDR ApaⅠgenotype and BMD or BMC at L 1～4 ,Neck and Ward' s(P<0.05,P<0.01)and compared with Aa and aa genotype,AA genotype had significantly higher mean BMD and BMC at L 1～4 ,Neck and Ward' s(P<0.05,P<0.01).But ApaⅠgenotype is not associated with BMD and BMC at Troch.Conclusions ApaⅠpolymorphism is associated with bone mass in men above60years,and AA genotype has higher bone mass.ApaⅠpolymorphism in VDR gene possibly influence loss of trabecular and cortical bone mass in old men.

关 键 词：维生素D受体 遗传多态性 骨密度 骨矿含量 男性 

分 类 号：R681[医药卫生—骨科学]