瘢痕疙瘩发病风险及Fas基因-670位点多态性.doc

瘢痕疙瘩发病风险及Fas基因-670位点多态性[摘要]目的：研究Fas基因-670位点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75例瘢痕疙瘩患者与120名正常对照的Fas基因-670多态性位点的基因型。结果：瘢痕疙瘩患者的A等位基因频率明显高于正常对照组(χ2=4.408,P=0.036)。瘢痕疙瘩患者的A/G、G/G基因型频率与正常对照组相比差异无统计学意义(χ2值分别为1.051和1.134;P值分别为0.305和0.287)，而瘢痕疙瘩患者的A/A基因型频率明显高于对照组(χ2=5.207,P=0.022)。提示A/A基因型者患瘢痕疙瘩的风险性明显高于A/G、G/G基因型者(OR=2.122,95%CI:1.105～4.077)。结论：Fas基因-670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。 [关键词]瘢痕疙瘩；Fas基因；多态性；遗传易感性 [中图分类号]R619+.9[文献标识码]A[文章编号]1008-6455（2008）03-03 Fas gene -670 polymorphism and susceptibility to keloid in a Chinese population ZHUO Yang,ZENG Xing-ye, ZHOU Xue-xue,HUANG Da-dao,CAO Xiao-en,HUANG Zheng-lian （Department of Surgery,the 118th Hospital of PLA,Wenzhou 325000,Zhejiang, China） Abstract:ObjectiveTo investigate the relationship between Fas-670 polymorphism and susceptibility to keloid in a southern Chinese population.MethodsThe Fas-670 genotypes were determined by polymerase chain reaction-reverse dot blot(PCR-RDB) and DNA direct sequencing in 75 patients with keloid and 120 unrelated healthy controls.ResultsThe frequency of the Fas-670 A allele among keloid patients was significantly higher than that among healthy controls(χ2=4. 408,P=0.036). The A/G and G/G genotype distribution among keloid patients was not significantly different from that among healthy controls(χ2=1.051 and 1.134; P=0.305 and 0.287, respectively). However, the A/A genotype frequency among keloid patients was significantly higher than that among healthy controls(χ2=5.207,P=0.022). The Fas-670 A/A genotype significantly increased the risk for developing keloid,compared to the combination of A/G and G/G genotypes,with the odds ratio(OR) of 2.122, (95%CI: 1.105～4.077).ConclusionDetermination of the Fas-670 genotype may be used as a stratification marker to predicate high-risk individuals for keloid. Key words: keloid; Fas gene; polymorphism; genetic susceptibility 近几年的研究结果提示，瘢痕疙瘩成纤维细胞的过量增生和凋亡相对减少在瘢痕疙瘩的发生、发展中起着重要作用[1]。而Fas蛋白是细胞表面一种与凋亡相关的抗原，Fas介导的凋亡被认为是介导死亡