STAT3基因多态性与中国汉族人群克罗恩病的相关性研究

Association between STAT3 gene polymorphisms and Crohn′ s disease susceptibility in Chinese Han population

目的:探讨STAT3基因rs744166及rs2293152位点多态性与我国汉族人群克罗恩病间的相关性。方法:选取232例我国汉族克罗恩病患者(病例组)和272名汉族正常人(对照组)作为观察对象,采用序列特异引物引导的PCR检测进行基因分型,分析病例组与对照组的基因型频率及等位基因频率。结果:病例组与对照组中2个位点基的因型分布均符合Hardy-Weinberg平衡定律。rs744166位点的基因型频率及等位基因频率在病例组与对照组间的分布差异有统计学意义(P<0.05),而rs2293152位点的基因频率及等位基因频率在病例组与对照组间的分布差异无统计学意义(P>0.05)。结论:STAT3基因rs744166多态性与我国汉族人群克罗恩病易感性相关。

Objective： To investigate the correlation of polymorphisms rs744166 and rs2293152 in signal transducer and activator of transcription 3 gene （STAT3） with Crohn＇s disease（CD） in Chinese Han population. Methods： A total of 232 Chinese Han patients with CD and 272 healthy controls were enrolled. The single nucleotide polymorphisms （SNPs） of STAT3 were detected by SSP-PCR （sequence specific primers-polymerase chain reaction）, their statistical differences were analyzed. Results： Both the distributions of rs744166 and rs2293152 genotypes in CD and control groups were in accordance with Hardy-Weinberg equilibrium. The genotype and allele distribution of STAT3 rs744166 polymorphism differed statistically between CD group and controls （P〈0.05）. Meanwhile, there was no statistical difference in frequencies of allele and genotype at rs2293152 in STAT3 between patients and controls （P〉0.05）. Conclusions： The STAT3 rs744166 polymorphism correlates with the susceptibility of CD in Chinese Han population.