中国人群PGC-1α/β基因多态性与骨密度和肥胖表型的关系  

Association between PGC-1α/βgene polymorphisms with bone mass density and obesity phenotypes in Chinese population

作　　者：陶晓卉 杨星光[2] 林小云 徐甜 胡云秋[1] 章振林[1] 岳华[1] TAO Xiao-hui;YANG Xing-guang;LIN Xiao-yun;XU Tian;HU Yun-qiu;ZHANG Zhen-lin;YUE Hua(Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases,Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University, Shanghai 200233, China;Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital,Shanghai 200233, China)

机构地区：[1]上海交通大学附属第六人民医院骨质疏松和骨病专科,上海市骨疾病临床研究中心,上海200233 [2]上海交通大学附属第六人民医院骨科,上海200233

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2021年第6期592-600,共9页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：国家重点研发计划(2018YFA0800801);国家自然科学基金(81770874,81974126);上海市临床重点专科建设项目-内分泌代谢科(“振龙头”类);上海申康医院发展中心临床科技创新项目(SHDC12018120)。

摘　　要：目的探讨PGC-1α/β基因多态性与中国人群骨密度(bone mass density,BMD)、肥胖表型之间的关系。方法招募上海市1161个核心家庭和2800名无亲缘关系的志愿者,采用双能X线测量仪(dual energy X-ray absorptiometry,DXA)测定全身各部位BMD、肌肉量和脂肪量;采用TaqMan荧光探针法检测PGC-1α/β基因的标签单核苷酸多态性位点;利用数量性状传递不平衡检测法(quantitative transmission disequilibrium test,QTDT)、协方差分析(analysis of covariance,ANCOVA)等方法分析PGC-1α/β基因多态性与BMD、肌肉和脂肪量之间的关系。结果在男性核心家系中,QTDT家系总相关分析显示,rs3736265与腰椎BMD、躯干脂肪量显著相关(P=0.021和0.031),rs2790867与股骨颈BMD显著相关(P=0.005),然而,家系内相关分析未观察到相关性(P>0.05)。女性核心家系及2800位无血缘关系的老年人群中,也未观察到PGC-1α/β基因多态性和BMD、肥胖表型之间的相关性(P>0.05)。结论PGC-1α/β基因多态性可能不是影响汉族人群BMD、肥胖表型变异的遗传因素。Objective To explore the relationship among polymorphisms in PGC-1α/βgene and bone mineral density(BMD),obesity-related phenotype variations in Chinese population.Methods A total of 1161 Chinese nuclear families and 2800 unrelated subjects of Han nationality in Shanghai were enrolled in this study.BMD,lean mass and fat mass were measured using dual-energy X-ray absorptiometry(DXA).TaqMan SNP genotyping assays were used to genotype tagging single nucleotide polymorphisms(SNPs)in PGC-1α/βgene.The quantitative transmission disequilibrium test(QTDT)and analysis of covariance(ANCOVA)were carried out to analyze the association among the polymorphism in PGC-1α/βgene,BMD,lean mass and fat mass.Results In male nuclear families,the total correlation analysis of QTDT revealed that rs3736265 was significantly related to lumbar BMD and trunk fat(P=0.021 and 0.031,respectively),and rs2790867 was significantly correlated with femoral neck BMD(P=0.005).However,no correlation was observed in the within-family correlation analysis(P>0.05).Furthermore,the association of polymorphism in PGC-1α/βgene with the BMD and obesity phenotypes were not significant in nuclear female families and 2800 unrelated elderly.Conclusion The polymorphisms of PGC-1α/βgene might not influence the bone mass and variations of obesity phenotypes in Han population.

关 键 词：PGC-1α/β 多态性 单倍型 骨密度 肥胖 

分 类 号：R681[医药卫生—骨科学]