环氧合酶-28473 T/C位点基因多态性与中国汉族人群溃疡性结肠炎易感性的相关性研究

背景：溃疡性结肠炎（UC）是由环境、感染、免疫、遗传等多因素相互作用所致的肠道慢性炎症,其中遗传易感性可能在UC的发病中起重要作用。目的：了解中国汉族UC患者环氧合酶（COX）-23’非翻译区8473T/C位点基因多态性及其与UC发病的可能相关性。方法：采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对291例UC患者和286名健康对照者的COX-23’非翻译区8473T/C位点的单核苷酸多态性进行检测。结果：与健康对照组比较,UC组COX-28473T/C位点TT基因型频率较低（58.8%对64.3%）,而TC、CC基因型频率较高（36.8%对33.9%、4.5%对1.7%）,但差异均无统计学意义（P〉0.05）。两组受检者T等位基因频率均较高,两组间C等位基因频率差异无统计学意义（P=0.092）。结论：COX-23’非翻译区8473T/C位点基因多态性与中国汉族UC患者的遗传易感性无相关性。

Association between Cyclooxygenase-2 8473 T/C Locus Polymorphism and Susceptibility to Ulcerative Colitis in Chinese Han Population

Background： Ulcerative colitis （UC） is a chronic inflammatory disorder of the digestive tract. For the pathogenesis of UC, it is widely accepted that environmental, infectious, immunologic and genetic components contribute to its etiology, Genetic susceptibility may play an important role in the pathogenesis of UC. Aims： To explore the gene polymorphism of cyclooxygenase （COX）-2 8473 T/C locus in patients with UC among the Chinese Han population and to investigate its correlation with UC. Methods： A total of 291 Chinese Han patients with UC and 286 healthy controls were genotyped by polymerase chain reaction restriction fragment length polymorphism （PCR-RFLP） for single nucleotide polymorphism （SNP） of COX-2 8473 T/C locus. Results： The proportion of genotype TT at 8473 T/C locus in UC group was lower than that in healthy control group （58.8% vs. 64.3%） and the proportions of TC and CC were higher than those in healthy control group （36.8% vs. 33.9%, 4.5% vs. 1.7%）, however, the difference was not statistically significant （P〉0.05）, The proportion of genotype T/T is dominant at COX-2 8473 T/C locus both in UC patients and controls. The difference of C allele frequencies between the two groups was not of statistical significance （P=0.092）. Conclusions： Gene polymorphism of COX-2 8473 T/C locus is not correlated with the susceptibility to UC in Chinese Han population.