GDF5基因rs224331多态性与汉族青少年体格发育指标关联分析  

The association of GDF5 gene rs224331 polymorphism with physical development parameters of Chinese Han adolescents

作　　者：裴舟[1] 李晓静[1] 王健民[2] 杨毅[3] 高玲玲[4] 沈水仙[1] 支涤静[1] 陆炜[1] 陆忠[1] 程若倩[1] 奚立[1] 叶蓉[1] 赵诸慧[1] 郑章乾[1] 章淼滢[1] 罗飞宏[1] 

机构地区：[1]复旦大学附属儿科医院内分泌遗传代谢科,上海201102 [2]江苏省泰州市人民医院儿科,江苏225300 [3]复旦大学附属儿科医院儿科研究所,上海201102 [4]上海市第一人民医院,上海200080

出　　处：《中国循证儿科杂志》2012年第4期274-277,共4页Chinese Journal of Evidence Based Pediatrics

基　　金：卫生行业科研专项项目(遗传代谢病筛查诊断适宜性技术的推广与应用):201002006

摘　　要：目的探讨中国汉族青少年GDF5基因rs224331位点多态性与身高、体重和BMI的相关性。方法采集江苏省某技校1790名17～22岁青少年的身高、体重指标并计算BMI。采用Taqman探针real-timePCR方法检测GDF5基因rs224331位点的单核苷酸多态性,并分析该基因位点与男女生身高、体重和BMI的相关性。结果 97.9%(1754/1790名)基因分型成功,男生859名,女生895名。rs224331位点频率最高的基因型为AA(51.7%),其次为AC(39.6%),CC最少(8.7%)。rs224331的基因型分布与男生、女生的身高无显著关联(P分别为0.728和0.723);rs224331不同基因型间的男生体重和BMI差异均有统计学意义(P均<0.01),男生AC基因型体重和BMI均显著高于AA基因型(P=0.002),女生中未发现类似的相关性(P分别为0.713和0.921)。结论 GDF5基因rs224331位点多态性在本研究的汉族人群中与身高无明显关联,提示该多态性位点可能存在种族特异性。rs224331位点多态性与男生体重和BMI存在相关性。Objective To explore the association of growth differentiation factor 5（GDF5） gene rs224331 polymorphism with height,weight and BMI in Chinese Han adolescents.Methods A total of 1 790 adolescents and young adults aged from 17 to 22 years were recruited from a technical school in Jiangsu province of China.Data of height and weight were collected from participants at the time of blood collection.BMI was calculated according to its formula.GDF5 gene rs224331 polymorphism was genotyped by Taqman probe and real-time PCR methods.Results 97.9%（859 males,895 females,totally 1 754） of the 1 790 subjects were successfully genotyped.At rs224331 locus,AA was dominant genotype（51.7%）,followed by AC（39.6%）and CC genotypes（8.7%）.There was no statistically significant association of rs224331 polymorphism with height in neither males nor females（P=0.728 and 0.723 respectively）.The genotype of rs224331 was significantly associated with weight and BMI in male subjects（P value was 2.32×10-4 and 3.19×10-4）.However,this association was not observed in females（Pvalue was 0.713 and 0.921）.Conclusions The current population-based study showed that the rs224331 polymorphism was not associated with height in neither males nor females.While GDF5 gene variant was associated with weight and BMI in Chinese Han young adult males.

关 键 词：生长分化因子5 基因多态性 身高 体重 体质指数 汉族 

分 类 号：R179[医药卫生—妇幼卫生保健]