细胞色素P450c 17α基因启动子区Msp AI多态性与上海市汉族男性骨量、骨大小的关系  

Relationship of Msp AI Polymorphism in Cytochrome P450c 17α Gene with Bone Mass and Bone Size in Shanghai Men of Han Nationality

作　　者：章振林[1] 秦跃娟[1] 何进卫[1] 黄琪仁[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和骨质疏松研究室,上海200233

出　　处：《中国医学科学院学报》2004年第6期687-691,共5页Acta Academiae Medicinae Sinicae

摘　　要：目的探讨细胞色素P450c 17α(CYP17)基因启动子区Msp AI多态性与上海市汉族男性骨量、骨大小的关系.方法应用聚合酶链反应-限制性片段长度多态性检测上海市397例46～80岁无亲缘关系的汉族男性(其中324例健康男性,73例骨质疏松患者)CYP17基因Msp AI多态性,并用双能X线吸收仪检查研究对象腰椎1～4和股骨近端股骨颈、大转子区及Ward's三角部位骨密度(BMD)、骨矿含量(BMC)和骨截面大小(CSA).结果397例男性CYP17 Msp AI基因型频率分布依次为TC(51.1%)、CC(33.8%)和TT(15.1%),等位基因T和C频率分布分别为40.7%和59.3%,等位基因频率分布符合Hardy-Weinberg定律.未发现该多态性在73例骨质疏松患者和324例健康男性之间频率分布的差异.通过协方差分析,在397例受试者、73例骨质疏松患者或324例健康男性中,均未显示CYP17基因Msp AI多态性与腰椎1～4和股骨近端各部位BMD、BMC和CSA的相关性.结论CYP17基因MspAI多态性不是影响上海市汉族男性骨量和骨大小变异的遗传因素.Objective To investigate the relationship of Msp AI polymorphism in the promoter region of cyto-chrome P450c 17αCYP17gene with bone mass and bone size in Shanghai men of Han nationality. Methods The CYP17 Msp AI genotype was determined by polymerase chain reaction-restriction fragment length polymorphism in 397 unrelated men324 healthy men 73 osteoporosis patientsaged 46-80 years of Han nationality in Shanghai. Bone mineral densityBMD bone mineral contentBMC and bone cross-section areaCSAat lumber spine 1-4 and at any sites of proximal femur including femoral neck trochanter and Ward's triangle were measured by duel-energy X-ray absorptiometry. Results Frequency distributions of CYP17 genotype were TC51.1% CC33.8% and TT15.1%. The allele frequencies T and C were 40.7% and 59.3% respectively. Allele frequencies did not deviate from Hardy-Weinberg equilibrium. The frequencies of CYP17 Msp AI genotype did not show difference between osteoporosis cases and healthy controls. In group of all population or in subgroups of osteoporosis patients and healthy men CYP17 Msp AI genotype was not significantly associated with BMD BMC and CSA at lumber spine 1-4 and at any sites of proximal femur after having been adjusted for age weight and height with analysis of covariance. Conclusion Msp AI polymorphism of CYP17 gene is not a genetic factor that influence the variation of bone mass and bone size in Shanghai men of Han nationality.

关 键 词：细胞色素P450c 17α基因 遗传多态性 骨密度 骨大小 

分 类 号：R681[医药卫生—骨科学]