NEDD4基因多态性rs2271289与中国汉族人瘢痕疙瘩表型的相关性研究

目的 探讨NEDD4基因多态性rs2271289与汉族人瘢痕疙瘩相关临床表型的相关性.方法 结合课题组前期瘢痕疙瘩关联分析数据,选取309例瘢痕疙瘩患者1 080例正常对照者的NEDD4基因多态性rs2271289基因分型资料,PLINK 1.07软件对选取数据资料进行分析.结果 在瘢痕疙瘩患者和正常对照者比较显示NEDD4基因多态性rs2271289基因频率存在差异有统计学意义(OR=1.62, 95% CI: 1.24~2.10, P=3.28E-04);通过分层分析显示严重瘢痕疙瘩患者与正常对照者等位基因频率分布差异有统计学意义(P<0.05),多发患者等位基因频率分布差异有统计学意义(P<0.05),但家族史阳性患者和阴性患者差异无统计学意义.结论 NEDD4基因多态性rs2271289与汉族人瘢痕疙瘩发病易感性相关,此外与瘢痕疙瘩发病严重程度相关,与家族史无关.

Study on association of rs2271289 polymorphism within NEDD4 gene with some clinical phenotypes of keloids in Chinese Han population

Objective To investigate the association of rs2271289 polymorphism with NEDD4 gene and some clinical phenotypes of keloids in Chinese Han population.Methods Based on the results of association study of keloids which were performed by our team.Genotyping data and clinical data of 309 cases and 1 080 controls were selected, Plink1.07 software was for comparing genotype or allele frequency distribution among the groups.Results There was a statistical difference in the distribution of allelic frequencies of rs2271289 between cases and controls(OR=1.62, 95% CI: 1.24~2.10, P=3.28E-04).The cases were stratified from family history, severity and lesion type, there were significant differences between clinical subgroups and controls.Significant associations were found for rs2271289 of NEDD4 with multiple site and severity (P<0.05),However, there was no statistical difference in family history.Conclusion The results indicate that the rs2271289 polymorphism within NEDD4 gene is associated with susceptibility of keloids in Chinese Han population, also it is associated with severity.