CAJ | 학술논문

目的探讨组织血型抗原基因[岩藻糖基转移酶(FUT)2和FUT3]多态性及单倍型与溃疡性结肠炎(UC)的相关性.方法收集233例UC患者和292例对照者,采用单碱基末端延伸(SNaPshot)技术检测FUT2(C357T/ A385 T/G428 A)及FUT3(T59G/G508A/T1067A)6个基因位点的多态性,并进行单倍型分析.结果在UC组和对照组中,FUT2和FUT3基因6个位点的等位基因和基因型频率分布差异均无统计学意义(P＞0.05).但分层分析发现,广泛结肠型UC患者中FUT3 (T59G)的等位基因(G)和基因型(TG±GG)的频率低于远端结肠型UC患者[17.5％(35/200)比25.9％ (69/266);31.0％ (31/100)比45.9％ (61/133),P＜0.05].单倍型分析发现各单倍型频率分布差异无统计学意义(P＞0.05).结论 FUT2基因多态性与UC的易感性无明显相关;FUT3 (T59G)基因突变可能影响UC患者的病变部位.
목적 탐토조직혈형항원기인[암조당기전이매(FUT)2화FUT3]다태성급단배형여궤양성결장염(UC)적상관성.방법 수집233례UC환자화292례대조자,채용단감기말단연신(SNaPshot)기술검측FUT2(C357T/ A385 T/G428 A)급FUT3(T59G/G508A/T1067A)6개기인위점적다태성,병진행단배형분석.결과 재UC조화대조조중,FUT2화FUT3기인6개위점적등위기인화기인형빈솔분포차이균무통계학의의(P＞0.05).단분층분석발현,엄범결장형UC환자중FUT3 (T59G)적등위기인(G)화기인형(TG±GG)적빈솔저우원단결장형UC환자[17.5％(35/200)비25.9％ (69/266);31.0％ (31/100)비45.9％ (61/133),P＜0.05].단배형분석발현각단배형빈솔분포차이무통계학의의(P＞0.05).결론 FUT2기인다태성여UC적역감성무명현상관;FUT3 (T59G)기인돌변가능영향UC환자적병변부위.
Objective To analyze the associations of polymorphisms and haplotypes in histo-blood group genes [Fucosyltransferase (FUT) 2 and FUT3] with the predisposition of ulcerative colitis (UC) in Chinese patients.Methods A total of 233 UC patients and 292 controls were collected.Six single nucleotide polymorphisms of FUT2 and FUT3 were detected using a SNaPshot technique.Haplotype analysis was also performed in all study subjects.Results Frequencies of allele and genotype in FUT2 and FUT3 genes did not significantly differ between UC patients and healthy controls (all P ＞ 0.05).When patients were stratified by clinical features,however,variant allele G and genotype GG + GT of FUT3 at T59G site were significantly decreased in patients with extensive colitis compared to those with distal colitis [17.5％(35/200) vs.25.9％ (69/266),P ＜0.05; 31.0％ (31/100) vs.45.9％ (61/133),P ＜0.05,respectively].Haplotype analysis showed that the haplotype frequencies were not statistically different between UC patients and controls (all P ＞ 0.05).Conclusion FUT2 polymorphisms were not significantly related to UC in Chinese patients.Mutations of FUT3 gene at T59G site,nevertheless,might have impact on locations of the disease.