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目的探讨COL11A1基因启动子多态与汉族人群成人身高的相关性。方法分析1289例汉族人全基因组分型数据,发现位于COL11A1基因启动子区域的标签SNPs rs6692914和rs11164719与身高显著相关(P分别为6.0×10-4和8.1×10-4)。对两个SNPs在另一独立人群1073例样本进行验证,Plink软件计算累加模式下线性回归P值及等位基因对身高的贡献效应值。结果COL11A1基因rs6692914和rs11164719与汉族人群身高相关,其线性回归Pcombined值分别为1.8×10-5和1.9×10-5。rs6692914等位基因A对总体样本身高的贡献值为0.54cm。结论COL11A1基因启动子多态可能与汉族人群身高相关。
Objective To investigate the relationship between COL11A1 gene promoter polymorphism and adult height in Han nationality. Methods Genome-wide genotyping data of 1289 Chinese Han were analyzed. The SNPs rs6692914 and rs11164719 in COL11A1 promoter region were significantly associated with height (P = 6.0 × 10-4 and 8.1 × 10-4, respectively). The two SNPs were validated in 1073 samples from another independent population. Plink software calculated the linear regression P-value and allele contribution to height in cumulative mode. Results The COL11A1 gene rs6692914 and rs11164719 correlated with the height of Han population. The linear regression Pcombined values were 1.8 × 10-5 and 1.9 × 10-5, respectively. The contribution of rs6692914 allele A to the overall sample height was 0.54 cm. Conclusion Polymorphism of COL11A1 gene promoter may be related to the height of Han population.