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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 investigate the association of rs2324331 polymorphism of GDF5 gene with height, weight and BMI in Han Chinese adolescents. Methods The height and body mass index of 1790 adolescents aged from 17 to 22 in a technical school in Jiangsu province were collected and the BMI was calculated. The single nucleotide polymorphism (SNP) of rs224331 in GDF5 gene was detected by real-time PCR using Taqman probe and the association between the locus and the height, weight and BMI of boys and girls was analyzed. Results 97.9% (1754/1790) were successfully genotyped, 859 boys and 895 girls. The genotype of rs224331 with the highest frequency was AA (51.7%), followed by AC (39.6%) and CC (8.7%). The rs224331 genotype distribution was not significantly correlated with the height of boys and girls (P = 0.728 and 0.723, respectively). There were significant differences in body weight and BMI among different genotypes of rs224331 (P <0.01) Body weight and BMI were significantly higher in the AA genotype than in the AA genotype (P = 0.002). No similar correlation was found among girls (P = 0.713 and 0.921, respectively). Conclusion There is no significant association between rs224331 polymorphism of GDF5 gene and height in Han population in this study, suggesting that there might be racial specificity in this polymorphism. There was a correlation between rs224331 polymorphism and body mass and BMI in boys.