瘢痕疙瘩发病风险与p53基因第72位密码子多态性的关系

目的 研究p53基因第72位密码子多态性与瘢痕疙瘩发病风险的关系。方法 采用聚合酶链反应-反向点杂交、DNA直接测序方法检测了45例瘢痕疙瘩患者与60名正常对照的p53基因第72位密码子多态性位点的基因型。结果 瘢痕疙瘩患者的Pro等位基因频率明显高于正常对照组(x^2=4．485，P=0．034)。瘢痕疙瘩患者的Pro／Arg、Arg／Arg基因型频率与正常对照组相比差异无统计学意义(x^2值分别为0．949和1．346；P值分别为0．330和0．246)，而瘢痕疙瘩患者的Pro／Pro基因型频率明显高于对照组(x^2=4．375，P=0．036)。提示Pro／Pro基因型者患瘢痕疙瘩的风险性明显高于Pro／Arg、Arg／Arg基因型者(OR=2．400，95％CI：1．048～5．498)。结论 p53基因第72位密码子多态性位点的基因型检测可能对判断瘢痕疙瘩高危个体具有指导意义。

P53 gene codon 72 polymorphism and susceptibility to keloid

OBJECTIVE: To investigate the relationship between p53 codon 72 polymorphism and susceptibility to keloid in a southern Chinese population. METHODS: The p53 genotypes were determined by polymerase chain reaction-reverse dot blot (PCR-RDB) and DNA direct sequencing in 45 patients with keloid and 60 unrelated healthy controls. RESULTS: The frequency of the p53 Pro allele among keloid patients was significantly higher than that among healthy controls (chi2 = 4.485, P = 0.034). The Pro/Arg and Arg/Arg genotype distribution among keloid patients was not significantly different from that among healthy controls (chi2 = 0.949, 1.346; P = 0.330, 0.246, respectively). However, the Pro/Pro genotype frequency among keloid patients was significantly higher than that among healthy controls (chi2 = 4.375, P = 0.036). The p53 Pro/Pro genotype significantly increased the risk for developing keloid, compared to the combination of Pro/Arg and Arg/Arg genotypes,with the odds ratio (OR) of 2.400 (95%CI: 1.048-5.498). CONCLUSIONS: Determination of the p53 codon 72 genotype may be used as a stratification marker to predicate high-risk individuals for keloid.