血管内皮生长因子基因（-2578C/A）和（＋936C/T）位点单核苷酸多态性与溃疡性结肠炎的关系

The associations of ulcerative colitis with vascular endothelial growth factor （-2578C/A） and （＋936C/T） single nucleotide polymorphisms

目的 探讨血管内皮生长因子（VEGF）基因（-2578C/A）和（＋936C/T）位点单核苷酸多态性与溃疡性结肠炎（UC）易感性的关系.方法 收集UC患者373例和健康对照者503例,采用微测序技术检测VEGF基因（-2578C/A）和（＋936C/T）单核苷酸多态性.结果 经非条件logistic 回归分析发现,重度UC患者中VEGF（＋ 936C/T）的突变等位基因T和基因型CT＋TT频率明显低于对照组（10.4％比19.3％,OR=0.487,95％ CI 0.248～0.954,P=0.036;18.8％比33.8％,OR=0.452,95％ CI 0.214 ～0.955,P=0.037）.并且重度UC患者中该位点的突变等位基因T和基因型CT＋TT频率亦明显低于轻中度患者（10.4％比20.5％,OR=0.452,95％ CI0.229 ～0.894,P=0.022;18.8％比36.9％,OR=0.394,95％ CI 0.185～0.842,P=O.016）.但VEGF（-2578C/A）位点的突变等位基因A和基因型CA＋ AA频率在UC组与对照组之间差异均无统计学意义,并且与UC患者的临床病理特征亦无关（P均＞0.05）.结论 VEGF（＋ 936C/T）位点基因突变能影响UC疾病严重程度;而VEGF（-2578C/A）位点基因多态性与UC易感性无关.

Objective To investigate the association of （-2578C/A） and （＋ 936C/T） single nucleotide polymorphism（SNPs） of vascular endothelial growth factor （VEGF） gene with the susceptibility to ulcerative colitis （UC）.Methods A total of 373 UC patients and 503 healthy controls were recruited.The （-2578C/A） and （＋ 936C/T） polymorphism of VEGF gene were detected using a mini-sequencing technique.Results By an unconditional logistic regression analysis,the frequencies of the mutant allele T and genotype CT ＋TT of VEGF gene （＋936C/T） were significantly decreased in patients with severe UC compared to the controls （10.4% vs 19.3%,OR =0.487,95% CI 0.248-0.954,P =0.036 ; 18.8% vs 33.8%,OR =0.452,95% CI 0.214-0.955,P =0.037,respectively）.Moreover,patients with severe UC had significant lower rates of mutant allele T and genotype CT ＋ TT compared with patients with mild and moderate UC （10.4% vs 20.5%,OR =0.452,95% CI 0.229-0.894,P =0.022; 18.8% vs 36.9%,OR=0.394,95% CI 0.185-0.842,P =0.016,respectively）.The frequencies of mutant allele A and genotype CA ＋ AA of VEGF （-2578C/A） gene were not statistically different between UC patients and the controls.Moreover,they were not significantly associated with the clinicopathologic features in UC patients.Conclusions The mutation of VEGF （＋ 936C/T） gene is correlated with the severity of UC.However,the polymorphism of VEGF （-2578C/A） gene is not significantly related to the susceptibility to UC.