NEDD4基因启动子区SNP位点与瘢痕疙瘩遗传倾向性的关联分析

The association between the promotor SNPs of NEDD4 and the susceptibility of Keloid

目的探讨泛素连接酶E3中NEDD4基因的单核甘酸多态性位点（SNPs）与瘢痕疙瘩（KD）遗传倾向性的关系。方法通过Sequenom公司的MassARRAYMALDI—TOFMS技术平台，对50例KD患者和52例正常人的3个位于NEDIM基因上的SNPs位点（rsl7819300，rs4774833，rsl0518830）的基因型进行分析。结果在rsl7819300和rs4774833这两个位点上，其基因型的差异无统计学意义。而rsl0518830的统计学结果（P=0．013，OR=0．32）显示，KD组与对照组间的基因型差异具有统计学意义。结论rsl0518830位点基因多态性与KD遗传倾向相关联，其所在基因NEDIM可能参与了KD的发病过程。

Objective To detect the association between KD and the SNPs （Single Nucleotide Polymorphism） in NEDD4. Methods The genotype of the 3 SNPs we chose （rs17819300, rs4774833, rs10518830） of 50 patients with KD as case group and 52 normal people as control group were analyzed by the MassARRAY MALDI-TOF MS technique from Sequenom corporation. Results There was no significant association between rs17819300 or rs4774833 and KD, but there was a significant difference in rs10518830 （ P=0. 013, OR = 0.32） be7ween cases and controls. Conclusion rsl0518830 is associated with the susceptibility of KD, and it located in the gene NEDD4 which might have involved in the pahtogenesis of KD.