山西医科大学学报
山西醫科大學學報
산서의과대학학보
JOURNAL OF SHANXI MEDICAL UNIVERSITY
2015年
1期
1151-1158
,共8页
李洁琼%谢兰品%董雅坤%綦辉%孙琳%焦伟伟%肖婧%徐放%申晨%申阿东
李潔瓊%謝蘭品%董雅坤%綦輝%孫琳%焦偉偉%肖婧%徐放%申晨%申阿東
리길경%사란품%동아곤%기휘%손림%초위위%초청%서방%신신%신아동
TLR4%多态性%结核病%汉族%儿童%易感性
TLR4%多態性%結覈病%漢族%兒童%易感性
TLR4%다태성%결핵병%한족%인동%역감성
TLR4%polymorphism%tuberculosis%Han ethnicity%children%susceptibility
目的：探讨TLR4的基因多态性与中国汉族儿童结核易感性的关系。方法收集348名汉族儿童结核病患者,并按照发病部位和严重程度分为肺内结核病、肺外结核病、重症结核病和非重症结核病亚组,以同期查体的389名儿童作为对照,采用病例对照研究,应用高通量MassARRAY技术对于TLR4基因的SNP位点进行基因分型研究。结果研究显示结核组和对照组TLR4基因rs1399431位点基因频率存在差异；rs1399431、rs1927907和rs11536889的基因型频率在亚组间的分布差异具有统计学意义。在显性模式下,rs1927907的A等位基因和rs1399431的T等位基因和正常组比较对于肺外结核病(Prs1927907=0．042和Prs1399431=0．012)具有保护作用；而rs1399431的T等位基因和非重症结核病比较,对于重症TB(Prs1399431=0．012)具有保护作用；在隐性遗传模式下rs11536889的C等位基因和正常组比较对于重症结核病(Prs1399431=0．024)具有易感作用。结论结果提示TLR4基因在结核病易感性方面,特别是结核病亚组之间具有一定作用。
目的：探討TLR4的基因多態性與中國漢族兒童結覈易感性的關繫。方法收集348名漢族兒童結覈病患者,併按照髮病部位和嚴重程度分為肺內結覈病、肺外結覈病、重癥結覈病和非重癥結覈病亞組,以同期查體的389名兒童作為對照,採用病例對照研究,應用高通量MassARRAY技術對于TLR4基因的SNP位點進行基因分型研究。結果研究顯示結覈組和對照組TLR4基因rs1399431位點基因頻率存在差異；rs1399431、rs1927907和rs11536889的基因型頻率在亞組間的分佈差異具有統計學意義。在顯性模式下,rs1927907的A等位基因和rs1399431的T等位基因和正常組比較對于肺外結覈病(Prs1927907=0．042和Prs1399431=0．012)具有保護作用；而rs1399431的T等位基因和非重癥結覈病比較,對于重癥TB(Prs1399431=0．012)具有保護作用；在隱性遺傳模式下rs11536889的C等位基因和正常組比較對于重癥結覈病(Prs1399431=0．024)具有易感作用。結論結果提示TLR4基因在結覈病易感性方麵,特彆是結覈病亞組之間具有一定作用。
목적：탐토TLR4적기인다태성여중국한족인동결핵역감성적관계。방법수집348명한족인동결핵병환자,병안조발병부위화엄중정도분위폐내결핵병、폐외결핵병、중증결핵병화비중증결핵병아조,이동기사체적389명인동작위대조,채용병례대조연구,응용고통량MassARRAY기술대우TLR4기인적SNP위점진행기인분형연구。결과연구현시결핵조화대조조TLR4기인rs1399431위점기인빈솔존재차이；rs1399431、rs1927907화rs11536889적기인형빈솔재아조간적분포차이구유통계학의의。재현성모식하,rs1927907적A등위기인화rs1399431적T등위기인화정상조비교대우폐외결핵병(Prs1927907=0．042화Prs1399431=0．012)구유보호작용；이rs1399431적T등위기인화비중증결핵병비교,대우중증TB(Prs1399431=0．012)구유보호작용；재은성유전모식하rs11536889적C등위기인화정상조비교대우중증결핵병(Prs1399431=0．024)구유역감작용。결론결과제시TLR4기인재결핵병역감성방면,특별시결핵병아조지간구유일정작용。
Objective To explore the association between gene polymorphisms of Toll like receptor 4(TLR4)and susceptibility to tuber-culosis(TB)in Han Chinese children. Methods A case-control study was performed in 348 TB patients(including pulmonary TB,ex-trapulmonary TB,severe TB and non-severe TB) and 389 healthy controls,who were of Han ethnicity and aged from 0. 2 to 18 years. Mas-sARRAY was then used for SNP genotyping. Results The genotype frequency of rs1399431 in TLR4 gene was significantly different be-tween TB group and control group. The genotype frequencies of rs1399431,rs1927907 and rs11536889 in TLR4 gene were also significantly different among pulmonary TB,extrapulmonary TB,severe TB and non-severe TB. Furthermore,rs1927907-A and rs1399431-T of TLR4 gene were found to be associated with reduced risk of developing extrapulmonary tuberculosis(EPTB)(Prs1927907 =0. 042 and Prs1399431 =0. 012)and severe TB(Prs1399431 =0. 012) in dominant inheritance model,and rs1399431-T was also associated with reduced risk of severe TB(Prs1399431 =0. 012). Similarly,rs11536889-C was associated with risk of severe TB(Prs1399431 =0. 024) in recessive inheritance model. Conclusion SNPs of TLR4 gene may be associated with TB, especially EPTB or severe TB in Han Chinese children.
