TGF-β_1基因-509C/T单核苷酸多态性与病理性瘢痕易感性研究

TGFβ_1-509C/T polymorphism and susceptibility to abnormal scar in Han Nationality of Chinese population

目的:探讨转化生长因子β1(TGF-β1)基因-509C/T多态性与中国汉族人群病理性瘢痕的相关关系。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155例病理性瘢痕患者与120名正常对照的TGF-β1基因-509C/T多态性位点的基因型。结果:病理性瘢痕患者的C等位基因频率明显高于正常对照组(χ2=4.676,P=0.031)。病理性瘢痕患者的C/T、T/T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0.763和1.376;P值分别为0.382和0.241),而病理性瘢痕患者的C/C基因型频率明显高于对照组(χ2=5.493,P=0.019)。提示C/C基因型者患病理性瘢痕的风险性明显高于C/T、T/T基因型者(OR=2.041,95%CI:1.116～3.73)。结论:TGF-β1基因-509位点C等位基因及C/C基因型可能是病理性瘢痕的易感因素。

Objective To investigate the relationship between TGFβ1-509C/T polymorphism and susceptibility to abnormal scar in a southern Chinese population. Methods The TGFβ1-509 genotypes were determined by polymerase chain reaction-reverse dot blot （PCR-RDB） and DNA direct sequencing in 155 patients with abnormal scar and 120 unrelated healthy controls. Results The frequency of the TGFβ1-509 C allele among abnormal scar patients was significantly higher than that among healthy controls （χ^2=4.676,P=0.031）. The C/T and T/T genotype distribution among abnormal scar patients was not significantly different from that among healthy controls （χ^2=0.763and 1.376; P=0.382 and 0.241, respectively）. However, the C/C genotype frequency among abnormal scar patients was significantly higher than that among healthy controls （χ^2=5.493,P=0.019）. The TGFβ1-509 C/C genotype significantly increased the risk for developing abnormal scar,compared to the combination of C/T and T/T genotypes,with the odds ratio（OR） of 2.041, （95% CI： 1.116-3.731）. Conclusion The TGFβ1-509 polymorphism may play a role in susceptibility to abnormal scar.