中华医学杂志
中華醫學雜誌
중화의학잡지
National Medical Journal of China
2010年
20期
1416-1420
,共5页
沈秀云%施瑞华%王颖%张红杰%周希乔%沈方程%李柯蓓
瀋秀雲%施瑞華%王穎%張紅傑%週希喬%瀋方程%李柯蓓
침수운%시서화%왕영%장홍걸%주희교%침방정%리가배
Toll样受体%结肠炎,溃疡性%Crohn病%Meta分析
Toll樣受體%結腸炎,潰瘍性%Crohn病%Meta分析
Toll양수체%결장염,궤양성%Crohn병%Meta분석
Toll-like receptors%Colitis,ulcerative%Crohn disease%Meta-analysis
目的 探讨Toll样受体基因多态性与中国人群和白种人群炎症性肠病(IBD)易感性的相关性.方法 采用聚合酶链反应.限制性片段长度多态性方法,检测113例江苏地区汉族IBD患者与120名正常对照者TLR2基因Arg677Trp、Arg753Glu,TLR4基因Asp299Gly、Thr399Ile及TLR9基因1237T/C基因型,分析这些Toll样受体基因位点的多态性与IBD发病的相关性;对白种人群中TLR4Asp299Gly、Thr399Ile两个单核苷酸多态性位点的多态性与IBD易感性及临床表型的关系进行荟萃分析.结果 在所检测的IBD患者和正常对照者中有2例溃疡性结肠炎(UC)患者、1例克罗恩病(CD)患者及1名正常对照者存在TLR91237T/C杂合突变(CD:P=0.361,UC:P=0.569),差异无统计学意义,在IBD患者及正常人群中均未发现TLR2基因Arg677Trp、Arg753Glu,TLR4基因Asp299Gly、Thr399Ile突变型;荟萃分析发现白种人CD和UC患者TLR4基因Asp299Gly(CD:OR=1.29,95%CI:1.08～1.54,P=0.004;UC:OR=1.28,95%CI:1.08～1.51,P:0.004)、Thr399Ile(CD:OR=1.37,95%CI:1.12～1.68,P=0.002;UC:OR=1.46,95%CI:1.13～1.88,P=0.003)突变发生率均明显高于正常对照者,Asp299Gly多态性与CD临床表型无明显相关性.结论 未发现TLR2基因Arg677Trp、Arg753Glu,TLR4基因Asp299Gly、Thr399Ile及TLR9基因1237T/C多态性与江苏地区汉族人群IBD的易感性相关;荟萃分析显示,TLR4基因Asp299Gly、Thr399Ile多态性与白种人CD和UC发病相关,IBD的遗传易感性具有种族差异性.
目的 探討Toll樣受體基因多態性與中國人群和白種人群炎癥性腸病(IBD)易感性的相關性.方法 採用聚閤酶鏈反應.限製性片段長度多態性方法,檢測113例江囌地區漢族IBD患者與120名正常對照者TLR2基因Arg677Trp、Arg753Glu,TLR4基因Asp299Gly、Thr399Ile及TLR9基因1237T/C基因型,分析這些Toll樣受體基因位點的多態性與IBD髮病的相關性;對白種人群中TLR4Asp299Gly、Thr399Ile兩箇單覈苷痠多態性位點的多態性與IBD易感性及臨床錶型的關繫進行薈萃分析.結果 在所檢測的IBD患者和正常對照者中有2例潰瘍性結腸炎(UC)患者、1例剋囉恩病(CD)患者及1名正常對照者存在TLR91237T/C雜閤突變(CD:P=0.361,UC:P=0.569),差異無統計學意義,在IBD患者及正常人群中均未髮現TLR2基因Arg677Trp、Arg753Glu,TLR4基因Asp299Gly、Thr399Ile突變型;薈萃分析髮現白種人CD和UC患者TLR4基因Asp299Gly(CD:OR=1.29,95%CI:1.08～1.54,P=0.004;UC:OR=1.28,95%CI:1.08～1.51,P:0.004)、Thr399Ile(CD:OR=1.37,95%CI:1.12～1.68,P=0.002;UC:OR=1.46,95%CI:1.13～1.88,P=0.003)突變髮生率均明顯高于正常對照者,Asp299Gly多態性與CD臨床錶型無明顯相關性.結論 未髮現TLR2基因Arg677Trp、Arg753Glu,TLR4基因Asp299Gly、Thr399Ile及TLR9基因1237T/C多態性與江囌地區漢族人群IBD的易感性相關;薈萃分析顯示,TLR4基因Asp299Gly、Thr399Ile多態性與白種人CD和UC髮病相關,IBD的遺傳易感性具有種族差異性.
목적 탐토Toll양수체기인다태성여중국인군화백충인군염증성장병(IBD)역감성적상관성.방법 채용취합매련반응.한제성편단장도다태성방법,검측113례강소지구한족IBD환자여120명정상대조자TLR2기인Arg677Trp、Arg753Glu,TLR4기인Asp299Gly、Thr399Ile급TLR9기인1237T/C기인형,분석저사Toll양수체기인위점적다태성여IBD발병적상관성;대백충인군중TLR4Asp299Gly、Thr399Ile량개단핵감산다태성위점적다태성여IBD역감성급림상표형적관계진행회췌분석.결과 재소검측적IBD환자화정상대조자중유2례궤양성결장염(UC)환자、1례극라은병(CD)환자급1명정상대조자존재TLR91237T/C잡합돌변(CD:P=0.361,UC:P=0.569),차이무통계학의의,재IBD환자급정상인군중균미발현TLR2기인Arg677Trp、Arg753Glu,TLR4기인Asp299Gly、Thr399Ile돌변형;회췌분석발현백충인CD화UC환자TLR4기인Asp299Gly(CD:OR=1.29,95%CI:1.08～1.54,P=0.004;UC:OR=1.28,95%CI:1.08～1.51,P:0.004)、Thr399Ile(CD:OR=1.37,95%CI:1.12～1.68,P=0.002;UC:OR=1.46,95%CI:1.13～1.88,P=0.003)돌변발생솔균명현고우정상대조자,Asp299Gly다태성여CD림상표형무명현상관성.결론 미발현TLR2기인Arg677Trp、Arg753Glu,TLR4기인Asp299Gly、Thr399Ile급TLR9기인1237T/C다태성여강소지구한족인군IBD적역감성상관;회췌분석현시,TLR4기인Asp299Gly、Thr399Ile다태성여백충인CD화UC발병상관,IBD적유전역감성구유충족차이성.
Objective To explore the distribution of Toll-like receptors gene polymorphisms in inflammatory bowel disease (IBD) in Chinese Han patients and Caucasians. Methods The toll-like receptor 2 (TLR2) genes Arg677Trp and Arg753Glu, TLR4 genes Asp299Gly and Thr399Ile, and TLR9 gene 1237T/C polymorphisms were genotypes in 113 patients with IBD and 120 age and gender-matched healthy controls by the analyses of polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP).A meta-analysis was performed to test whether TLR4 Asp299Gly and Thr399Ile polymorphisms were associated with ulcerative colitis (UC) or Crohn's disease (CD) susceptibility and whether 299Gly carriage was associated with phenotypes of CD patients in the Caucasian population. Results We found two carriers of TLR9 1237C in UC patients, one carrier in CD patients and one in healthy controls respectively(CD:P=0. 361;UC:P=0. 569) . There was no statistically significant difference in both allelic and genotypic frequencies. The mutant genotypes of TLR2 gene Arg677Trp and Arg753Glu, TLR4 gene Asp299Gly and Thr399Ile were not found in either the IBD patients or the healthy controls. The TLR4 299G allele showed a significant association with CD and UC in Caucasian population (OR=1. 29,95% CI:1. 08-1. 54,P=0. 004 and OR=1. 28, 95% CI:1. 08-1. 51, P=0. 004 respectively) . Similar association was detected between T399I polymorphism and susceptibility to IBD (OR=1.37,95% CI:1. 12-1. 68, P=0. 002 and OR=1. 46, 95% CI:1. 13-1. 88,P=0. 003 respectively). However, no significant association was identified between CD phenotypes and 299Gly carriage. Conclusion TLR2 genes Arg677Trp and Arg753Glu,TLR4 genes Asp299Gly and Thr399Ile and TLR9 gene 1237T/C polymorphisms are not associated with IBD in Chinese Han patients.In Caucasians.both TLR4 299G and 399I confer a significant risk for developing CD and UC.The contribution of genetic determinants may differ significantly between ethnicities.
