CAJ | 학술논문

目的研究Toll样受体9(toll-like receptor 9,TLR9)基因启动子区单核苷酸多态性在浙江汉族儿童中的分布,探讨其与哮喘易感性及其表型之间的相关性.方法对312例变应性哮喘患儿(哮喘组)和339名健康儿童(对照组)采用DNA直接测序法检测TLR9基因-1486(rs187084)和-1237(rs5743836)单核苷酸多态性;采用ELISA法检测两组不同基因型血清干扰素γ(interferon-γ,IFN-γ)、白细胞介素12(interleukin-12,IL-12)和白细胞介素4(interleukin-4,IL-4)水平;采用化学发光法检测血清总免疫球蛋白E(immunoglobulin E,IgE)水平;采用酶免疫荧光法检测血清变应原特异IgE.结果 (1)哮喘组和对照组均存在-1486位点T→C突变,哮喘组TT、TC和CC 3种基因型的频率分别是3 8.8%、48.4%和12.8%,对照组分别是41.0%、44.3%和14.7%;未发现-1237位点存在多态性.(2)哮喘组和对照组-1486位点各基因型的频率分布差异无统计学意义(P＞0.05),年龄分层后比较差异也无统计学意义(P＞0.05).(3)哮喘组-1486位点3种基因型的血清IFN-γ和IL-4水平差异有统计学意义(P＜0.01),CC基因型的IFN-γ水平较低而IL-4水平较高;对照组2种细胞因子的差异无统计学意义(P＞0.05).哮喘组和对照组血清IL-12水平在3种基因型间差异均无统计学意义(P＞0.05).(4)哮喘组-1486位点不同基因型血清总IgE水平差异无统计学意义(P＞0.05).结论浙江汉族儿童不存在TLR9基因-1237位点多态性.TLR9基因-1486 C/T位点单核苷酸多态性与浙江汉族儿童哮喘易感性、血清IL-12及总IgE水平无关;-1486 C/T位点多态性与哮喘患儿血清IFN-γ和IL-4水平有关联,CC基因型的IFN-γ水平较低而IL-4水平较高.
목적 연구Toll양수체9(toll-like receptor 9,TLR9)기인계동자구단핵감산다태성재절강한족인동중적분포,탐토기여효천역감성급기표형지간적상관성.방법 대312례변응성효천환인(효천조)화339명건강인동(대조조)채용DNA직접측서법검측TLR9기인-1486(rs187084)화-1237(rs5743836)단핵감산다태성;채용ELISA법검측량조불동기인형혈청간우소γ(interferon-γ,IFN-γ)、백세포개소12(interleukin-12,IL-12)화백세포개소4(interleukin-4,IL-4)수평;채용화학발광법검측혈청총면역구단백E(immunoglobulin E,IgE)수평;채용매면역형광법검측혈청변응원특이IgE.결과 (1)효천조화대조조균존재-1486위점T→C돌변,효천조TT、TC화CC 3충기인형적빈솔분별시3 8.8%、48.4%화12.8%,대조조분별시41.0%、44.3%화14.7%;미발현-1237위점존재다태성.(2)효천조화대조조-1486위점각기인형적빈솔분포차이무통계학의의(P＞0.05),년령분층후비교차이야무통계학의의(P＞0.05).(3)효천조-1486위점3충기인형적혈청IFN-γ화IL-4수평차이유통계학의의(P＜0.01),CC기인형적IFN-γ수평교저이IL-4수평교고;대조조2충세포인자적차이무통계학의의(P＞0.05).효천조화대조조혈청IL-12수평재3충기인형간차이균무통계학의의(P＞0.05).(4)효천조-1486위점불동기인형혈청총IgE수평차이무통계학의의(P＞0.05).결론 절강한족인동불존재TLR9기인-1237위점다태성.TLR9기인-1486 C/T위점단핵감산다태성여절강한족인동효천역감성、혈청IL-12급총IgE수평무관;-1486 C/T위점다태성여효천환인혈청IFN-γ화IL-4수평유관련,CC기인형적IFN-γ수평교저이IL-4수평교고.
Objective To investigate the distribution characteristics of the single nucleotide polymorphisms (SNPs) in the promoter region of the toll-like receptor 9 gene (TLR9)in Chinese Han children from Zhejiang province, and their associations with asthma susceptibility and phenotypes. Methods A case-control study was conducted. A total of 312 asthmatic children aged between 1.9 and 11.6 and 339 age matched healthy controls were enrolled in this study from April 2007 to November 2008. The -1486 C/T in rs187084 and -1237 C/T in rs5743836 loci of the TLR9 gene were genotyped by direct DNA sequencing of the PCR products. Serum levels of IFN-γ, IL-12 and IL-4 were detected by enzyme linked immunosorbent assay. Serum levels of total IgE were detected by chemiluminescence, and serum levels of ildren (P＜0.01). The CC genotype had the lowest levels of serum IFN-γand the highest levels of serum IL-4 among the three genotypes. There were no significant differences in these cytokines among the healthy controls (P＞0.05). No statistical differences of serum IL-12 were found among the three genotypes in the two groups (P＞0.05). (4) There were no significant differences of total IgE (log-transformed) among the three genotypes in the asthmatic children (P＞0. 05). Conclusion The -1237 C/T polymorphism of TLR9 gene was not detected in Chinese Han children in this study. The - 1486 C/T polymorphism was associated with the levels of serum IFN-γ and IL-4 in children with asthma.However, there were no correlations between the -1486C/T polymorphism and serum IL-12 levels, total IgE levels or asthmatic susceptibility.