中国安阳地区人群IRF-3基因Codon427位点多态性与食管癌的关联性研究

目的:探讨河南省安阳地区人群干扰素调节因子3(interferon regulatory factor 3,IRF-3)基因单核苷酸多态性(single nucleotide polymorphisms,SNPs)与食管癌发生的关联.方法:提取安阳地区152例食管癌患者及当地食管拉网普查个体191例外周血基因组DNA,用PCR方法扩增IRF-3基因含Codon 96、194、377、427这4个多态性位点的片段,并采用DNA直接测序法明确个体基因型,用x2检验计算多态性分布频率.结果:IRF-3基因Codon96、194、377处3个多态性位点在安阳人群中没有多态性,Codon 427位点在安阳正常人群与安阳食管癌患者两组间差异有显著性,0R=2.38(95%CI=1.15～4.95,P＜0.05).结论:IRF-3基因Codon 427的多态性增加食管癌发生的易感性,在增加食管癌的发病风险性方面,C等位基因约是G等位基因的2.38倍.

Relationship between polymorphism of IRF-3 gene codon 427 and esophageal cancer in Anyang population of China

OBJECTIVE:To investigate the association between the single nucleotide polymorphisms (SNPs) of interferon regulatory factor 3 (IRF-3) gene and the susceptibility of esophageal cancer in Anyang area, Henan Province. METHODS: The genomic DNAs of 152 esophageal cancer patients and 191 health controls were extracted from the peripheral blood leukocytes. Three fragments covering codons 96, 194, 377, and 427 of the IRF-3 gene were amplified by polymerase chain reaction (PCR). The SNPs were revealed by DNA sequencing and the genotype of every sample was determined accordingly. The frequency distribution of the SNPs was analyzed by chi(2) test. RESULTS: There were no IRF-3 gene SNPs at codons 96, 194, or 377 in Anyang participants. There was significant difference in the SNPs at codon 427 between the healthy controls and esophageal cancer patients in Anyang area OR=2.38 (95%CI=1.15-4.95,P<0.05). CONCLUSION:The SNPs at codon 427 of the IRF-3 gene may relate to the susceptibility of esophageal cancer. The risk of esophageal cancer in participants with C allele is 2.38-fold compared to those with G allele.