γ-氨基丁酸B2受体基因rs3750344多态与汉族人骨密度及骨矿量的关系  

Association between γ-Aminobutyric Acid B2 Receptor Gene Polymorphism rs3750344 and Bone Mass Content or Bone Mass Density in Chinese Hans Population

作　　者：李蕾[1] 陈慧敏[2] 蒋晓燕[3] 陈艳[4] 许俐[4] 

机构地区：[1]复旦大学生命科学学院遗传研究所,上海市200433 [2]浙江省中医院预防保健科,浙江杭州市310009 [3]同济大学医学院药理教研室,上海市200092 [4]济南市妇幼保健院妇科内分泌,山东济南市250001

出　　处：《中国康复理论与实践》2010年第3期271-272,共2页Chinese Journal of Rehabilitation Theory and Practice

基　　金：国家教育部2009年度高校博士点专项基金新教师基金资助(No.20090072120002);上海市卫生局局级科研课题(No.2009133);山东省济南市科技局发展计划项目(No.200807031);同济大学2007年青年优秀人才基金(No.2007KJ065)

摘　　要：目的探讨γ-氨基丁酸B2受体(GABABR2)基因第二外显子rs3750344单核苷酸多态性(SNP)与骨密度的关联。方法425名健康志愿者采用双能X线骨密度仪测量全身各个部位的骨密度和骨矿量,用Taqman基因分型平台进行rs3750344基因分型。结果SNPrs3750344位点TT、TC及CC基因型携带者个体的上肢、下肢、躯干、肋骨、骨盆和全身总骨密度、骨矿量均依次显著增加。结论GABABR2基因rs3750344多态的C等位基因增加汉族人骨密度骨及骨矿量的水平。Objective To investigate the association of γ-aminobutyric acid B2 receptor （GABABR2） gene polymorphism rs3750344 and bone mass （bone mass content, BMC, and bone mass density, BMD） in population of Chinese Hans lives in Jinan. Methods 425 volunteers were recruited. BMC and BMD of all subjects were measured with dual energy X-ray absorptiometry （DXA）. Genotyping of polymorphism rs3750344 was conducted using Taqman assays. Results BMD and 13MC increased with the copy of the C allele of rs3750344 in whole body. Conclusion The C allele of GABABR2 rs3750344 increases the levers of BMD and BMC in Chinese Han PoPulation.

关 键 词：γ-氨基丁酸(GABA) 受体 基因多态 骨密度(BMD) 骨矿量(BMC) 

分 类 号：R681[医药卫生—骨科学]