FcεR I-β基因启动子区多态性与哮喘儿童血清总IgE的关系

目的　探讨IgE高亲和力受体 β链 (FcεRI β)基因启动子区 10 9C/T多态性与儿童哮喘血清总IgE水平的关系。方法　采用聚合酶链式反应 限制性片断长度多态性 (PCR RFLP)法检测了 2 0 0 1年 12月至 2 0 0 3年 2月吉林大学第一临床医院 12 6例哮喘儿童和 87名正常儿童的FcεRI β 10 9C/T基因多态性 ;用酶联免疫法检测血清总IgE水平和空气过敏原。结果　FcεRI β 10 9C/T基因型分布及等位基因频率哮喘组与正常对照组比较 ,差异均无显著性意义 ;哮喘组、对照组过敏原检测阳性率在突变基因型与未突变基因型间比较 ,差异均无显著性意义 ;哮喘组FcεRI β 10 9C/T突变纯合型个体的Log10 IgE水平高于突变杂合型及未突变型个体的水平 (P <0 0 5 )。结论　FcεRI β基因启动子区 10 9C/T不是汉族儿童哮喘的易感基因 ,与过敏原亦无关 ,但突变纯合子TT型与血清总IgE水平升高相关联。     

白细胞介素-4基因启动子区C-589T变异与儿童哮喘的关系

目的探讨白细胞介素-4(IL-4)基因启动子区C-589T变异与儿童哮喘的关系。方法 采用聚合酶链反应-限制性片断长度多态性(PCR-RFLP)法检测84例哮喘儿童和79例正常儿童的IL-4基因启动子区C-589T基因变异情况;用酶免法检测血清总IgE水平和空气过敏原 结果 1.IL-4的C-589T突变基因型分布及等位基因频率哮喘组与正常对照组比较无显著差异(P>0.05);2.哮喘组、对照组过敏原检测阳性率及LgIgE水平在突变纯合型(TT型)、突变杂合型(CT型)和未突变型(CC型)3种不同基因型间比较均无显著差异(P>0.05)结论 IL-4基因启动子区C-589T突变不是长春地区儿童哮喘的易感基因,与过敏原、血清总IgE水平亦无关 实用儿科临床杂志,2004,19(12):1030-1031     

转化生长因子β1基因多态性与儿童哮喘易感性研究

目的探讨转化生长因子β1(TGFβ1)基因多态性与儿童哮喘的关系。方法应用聚合酶链反应 -限制性片段长度多态性 (PCR_RFLP)技术对98例哮喘患儿与52例正常儿童进行TGFβ1 基因5′-侧翼区 -509C/T多态性分析 ,并采用双抗体夹心ELISA法检测血清总IgE水平。结果哮喘组基因型分布和等位基因频率与对照组相比 ,差异均无显著性 (P>0.05) ;重度哮喘组基因型分布和等位基因频率与轻度组或对照组相比 ,差异有显著性(P<0.05) ;基因型为TT型的哮喘患儿血清总IgE水平明显高于CC型或CT型 ,差异具有显著性 (P<0.05)。结论TGFβ1 基因 -509C/T突变不是儿童哮喘的高发因素 ,但它可能是重度哮喘的候选基因 ,且突变纯合型与血清总IgE水平升高有关。     

IL-13基因多态性与RSV感染后婴幼儿喘息及哮喘关系的研究

目的 探讨IL-13基因Arg110Gln多态性在RSV感染后婴幼儿喘息发生和哮喘发病中的作用.方法 哮喘患儿和止常儿童各96例,RSV感染后喘息婴幼儿112例,取其颊黏膜细胞,提取DNA,用实时PCR法对IL-13 Arg110Gln位点进行基因分型.结果 IL-13 Arg110Gln位点的基因型和等位基因频率分布在哮喘组和对照组间差异有高度统计学意义(P<0.01);哮喘组的A等位基因和A/A纯合子基因型频率明显高于对照组(分别为68.2%和47.4%,46.9%和29.2%,P<0.01).IL-13 Arg110Gln位点的基因型和等位基因频率分布在哮喘组和RSV感染后喘息组间差异无统计学意义(P>0.05).结论 IL-13 Arg110Gln位点G→A变异与RSV感染后婴幼儿喘息发生和哮喘发病相关,两者在该位点上可能存在相似的遗传基础.     

IL-13基因多态性与RSV感染后婴幼儿喘息发病的关系

目的 探讨IL-13 Arg110Gln基因多态性与呼吸道合胞病毒(RSV)感染后喘息发作的关系.方法 根据临床表现,将RSV感染者分为无喘息组和喘息组,取其颊黏膜细胞,提取DNA,用实时PCR法对IL-13Arg110Gln基因检测,分析基因多态性与喘息发生和病情之间的关系.结果 在RSV感染患儿中存在IL-13Arg110Gln位点不同,在喘息组,A和G碱基的发生频率分别为58.92%、41.07%,而在无喘息组A和G碱基的发生频率则分别是44.39%、55.61%,两组比较差异有统计学意义.AA型较GG型患儿喘息发作病情重,住院天数多,差异有统计学意义.另外,AA型患儿IgE和嗜酸性细胞阳离子蛋白(ECP)水平明显高于GG型.结论 IL-13Arg110Gln多态性AA基因型与RSV感染后婴幼儿喘息的发病相关.     

CTLA-4启动子-318C/T基因多态性与哮喘患儿血清总IgE水平的关系

目的探讨细胞毒T淋巴细胞相关抗原4(CTLA-4)启动子-318(C/T)基因多态性和吉林长春地区哮喘患儿血清总IgE水平的关系,以便为哮喘的诊治提供新线索。方法随机选取90例哮喘患儿及100例健康体检儿童作对照组,哮喘组和对照组的性别和年龄差异无统计学意义。采用聚合酶链式反应—限制性片段长度多态性(PCR-RFLP)技术对哮喘组和对照组CTLA-4启动子-318(C/T)基因多态性进行检测分析;同时采用酶联免疫吸附试验(ELISA)检测不同基因型哮喘患儿血清总IgE水平。结果CTLA-4启动子-318位点存在基因多态性。血清总IgE水平哮喘组(M=308.92 IU/ml,Q=254.75)高于正常对照组(M=36.66 IU/ml,Q=33.57),P<0.01;哮喘组中基因型为野生型(CC型,M=375.86 IU/ml,Q=139.95),高于突变型(TT型 CT型,M=141.25 IU/ml,Q=47.73),P<0.01。结论CTLA-4启动子-318(C/T)存在基因多态性,该位点的基因多态性可能引起血清总IgE水平下调。     

哮喘儿童IgE高亲合力受体β链基因多态性的初步研究

目的：探讨IgE高亲合力受体β链基因的I181L,V183L和E237G位点基因多态性与儿童哮喘及血浆总IgE的关系。方法：采用扩增阻滞突变系统聚合酶链式反应(ARMS-PCR)检测技术对50例四川地区哮喘儿童和40例健康对照儿童进行181,183,237三个位点的多态性进行检测,并用双抗体夹心ELISA法检测血清总IgE水平,分析其与儿童哮喘易感性的关系。结果：在哮喘儿童中检测到I181L突变5例、V183L突变2例、E237G突变7例,在对照组中未发现突变子;有突变的哮喘儿童的血清IgE明显高于无突变和正常对照儿童。I181L和E237G突变与儿童哮喘和血清IgE升高有显著相关性。结论：FcεR1β基因I181L和E237G基因多态性是儿童哮喘发病的重要候选基因,与血清总IgE水平升高密切相关。     

哮喘缓解期儿童血清白细胞介素-13与免疫球蛋白E水平变化

目的探讨哮喘患儿IL-13及总IgE变化的意义。方法采用酶联免疫吸附试验(ELISA)方法和Pharmacia UniCAP检测系统检测88例6~14岁的哮喘缓解期和40例正常对照儿童血清IL-13与总IgE水平。结果哮喘缓解期儿童临床症状和肺功能改善;血清IL-13水平高于正常儿童对照组(U=3.93 P<0.01);血清总IgE水平仍明显高于正常儿童对照组(U=10.52 P<0.01)。血清IL-13水平与总IgE水平呈显著正相关(r=0.2685 P>0.05)。结论哮喘缓解期变态反应性炎症持续存在,血清高质量浓度的IL-13和IgE与哮喘的免疫病理相关。     

白细胞介素4受体Q576R基因多态性与支气管哮喘病人IgE的相关性

目的：白细胞介素4(IL-4)是哮喘发病机制中重要的细胞因子。该文探讨了白细胞介素4受体(IL-4R)基因Q576R多态性与儿童支气管哮喘及IgE水平的相关性。方法：用聚合酶链反应/限制性片段长度多态性分析方法(PCR/RFLP)，检测94例哮喘儿童和68例正常对照儿童IL-4R Q576R的多态性,并用酶联免疫吸附法(ELISA)检测两组儿童血浆总IgE的水平，然后进行χ2检验及成组t检验。结果：IL-4R杂合突变基因型Q576R、突变等位基因R576的分布频率在哮喘儿童及正常对照儿童中分布频率分别为41%，16%及26%,16%,差异有显著性(P<0.01，<0.05)；哮喘儿童中杂合突变基因型Q576R携带者与野生型Q576Q携带者比较，血浆总IgE水平分别为225.78±51.43 IU/mL、163.24±31.32 IU/mL，差异无显著性。结论：IL-4R突变等位基因R576可能是儿童易感哮喘的一个候选基因；未发现IL-4R等位基因R576对哮喘儿童血浆总IgE水平升高有明显影响；白细胞介素4受体Q576R基因多态性与支气管哮喘有相关性。     

儿童哮喘与过敏原、血清总IgE水平相关性分析

目的探讨儿童哮喘与过敏原、血清总IgE水平的关系。方法将120例哮喘患儿设为实验组,对照组为同期无呼吸系统疾病、过敏性疾病及家族遗传史的儿童,计48例;采用敏筛过敏原检测方法,观察两组儿童致敏物阳性率及血清总IgE水平。结果实验组过敏原阳性率为88.33%,吸入性致敏物中户尘螨粉尘螨的阳性率最高,食入性致敏物中牛奶阳性率最高;对照组过敏原阳性率为12.5%,两组儿童过敏原阳性率比较,差异有统计学意义(P<0.01);实验组血清总IgE升高112例(93.33%),对照组血清总IgE升高6例(12.5%),两组儿童血清总IgE水平比较,差异有统计学意义(P<0.01)。结论哮喘患儿对多种过敏原有阳性反应,其中以吸入性过敏原为主,及早避免接触过敏原,对防治儿童哮喘有重大意义;血清总IgE水平对支气管哮喘的诊断起到协助作用。     

白细胞介素-4受体基因多态性及IgE水平与哮喘预测指数相关性研究

目的研究新疆维吾尔自治区儿童白细胞介素-4受体(IL-4R)基因多态性及Ig E水平与哮喘预测指数(API)的相关性。方法选取167例API(+)、187例API(-)及203例健康婴幼儿(对照组),应用PCR聚合酶链反应和DNA测序法进行基因分型。同时ELISA法检测三组婴幼儿血清Ig E水平。结果 IL-4R基因Arg551Gln位点各基因型频率分布在API(+)组、API(-)组、对照组三组中差异无统计学意义(P0.05);API(+)组血清Ig E水平明显高于API(-)及对照组(P0.01);API(+)患儿中2岁者血清Ig E水平明显低于≥2岁者(P0.01)。结论 Arg551Gln位点多态性与API结果无相关性,而API阳性与Ig E水平升高存在关联性,年龄≥2岁是API阳性的儿童Ig E水平升高的风险因素。     

IL-13 基因+2044G/A 多态性与儿童哮喘风险和血清IL-13 水平的相关性研究

目的探讨IL-13基因+2044G/A多态性与儿童哮喘发病风险及哮喘儿童血清IL-13水平的关系。方法采用PCR-RFLP和ELISA方法,对90例支气管哮喘患儿(哮喘组)和82例健康儿童(对照组)IL-13基因+2044G/A多态性和血清IL-13水平进行检测,计算基因型、等位基因频率及其所对应的血清IL-13水平。结果哮喘组和对照组IL-13+2044G/A多态性3种基因型的分布差异有统计学意义(P0.001);与GG基因型比较,GA基因型儿童哮喘风险增加3.52倍(95%CI:1.82~6.82),AA基因哮喘风险增加3.71倍(95%CI:1.06~12.97)。哮喘组A等位基因频率为36.1%,高于对照组的18.3%,差异有统计学意义(P0.001)。与G等位基因比较,A等位基因携带儿童哮喘风险增加2.53倍(95%CI:1.53~4.16)。哮喘组患儿血清IL-13水平为151.82(134.33~166.68)ng/L,对照组为79.00(58.74~111.09)ng/L,两组差异有统计学意义(P0.001)。哮喘组GG、GA和AA基因型的血清IL-13水平均分别高于对照组,差异有统计学意义(P均0.01)。哮喘组GG、GA和AA 3种基因型之间血清IL-13水平的差异也有统计学意义(P0.01),其中GA和AA基因型血清IL-13水平高于GG基因型。结论 IL-13基因+2044G/A多态性与支气管哮喘儿童血清IL-13水平具有关联性,且A等位基因可能造成了哮喘儿童血清高IL-13水平,携带A等位基因的儿童哮喘风险增加。     

The C−159T polymorphism in the CD14 promoter is associated with serum total IgE concentration in atopic Chinese children

Activation of macrophages through CD14 by microbes is crucial in inducing immunity by type 1 T helper cells. A C-to-T polymorphism at position −159 of CD14 was associated with serum total IgE level in Caucasians but not in Japanese subjects. The objective of this study is to determine whether this polymorphic marker is associated with atopy and asthma phenotypes in Chinese children. Restriction fragment length polymorphism was used to characterize CD14/−159 genotypes. Microparticle immunoassay was used to measure serum total IgE level; fluorescent enzyme immunoassay was performed to measure serum concentrations of specific IgE to aeroallergens; and enzyme-linked immunosorbent assay was used to measure serum levels of soluble CD14 (sCD14). Lung function in asthmatics was assessed by spirometry. Two hundred and fifty-eight patients and 92 control children were recruited. Their mean serum total IgE concentrations were 331 and 74 kIU/l, respectively (p < 0.0001). Atopy, defined as the presence of at least one allergen-specific IgE in serum, was found in 220 (85%) patients and in 41 (45%) controls (p < 0.0001). Serum sCD14 levels were significantly associated with CD14/−159 genotypes (p = 0.004). Atopic subjects with CC genotype in CD14/−159 had the highest serum total IgE levels compared with CT and TT genotypes, with the respective mean values being 661, 427 and 380 kIU/l (p = 0.015). Similarly, a higher proportion of subjects with CC genotype had increased serum total IgE concentration (p = 0.039). This polymorphic marker was not associated with asthma or aeroallergen sensitization in our cohort. Our results suggest that the C−159T of CD14 was associated with serum total IgE concentration in atopic Chinese children.     

Thromboxane A2 receptor gene polymorphism is associated with the serum concentration of cat-specific immunoglobulin E as well as the development and severity of asthma in Chinese children

Thromboxane A2 and its receptor (TBXA2R) are involved in the constriction of vascular and respiratory smooth muscles. The T924C polymorphism in the TBXA2R gene was recently found to be associated with asthma in Japanese adults but not in children. Its relationship with atopy or asthma severity in children has not been defined. To investigate this further, we first assessed the severity of asthma in Chinese children using a standardized questionnaire modified from the Disease Severity Score and spirometric evaluation. Then, peripheral blood was analyzed for serum total and aeroallergen‐specific immunoglobulin E (IgE) levels, and TBXA2R T924C genotypes were determined by restriction fragment length polymorphism (RFLP) analysis. One‐hundred and fifty three asthmatic patients and 57 control children were recruited, of respective mean ages 9.9 and 11.0 years (p = 0.07). The mean logarithmic serum total IgE concentration was 2.57 and 2.09, respectively, for the asthmatic group and control group (p < 0.0001). Atopy was detected in 132 (86%) asthmatics and 33 (58%) controls. A significant association was observed between T924C and the diagnosis of atopic asthma (p = 0.044; odds ratio: 1.84). In addition, those asthmatics homozygous for the mutant allele in T924C had a lower forced expiratory volume in 1 s (FEV₁) and forced vital capacity (FVC) (p = 0.032 and 0.002, respectively). Among our asthmatic patients, the TBXA2R T924C polymorphism correlated with the concentration of cat‐specific IgE in serum (p = 0.046). Nonetheless, this gene marker did not show an association with the serum total IgE concentration or any clinical indicator of asthma severity. In conclusion, our results suggest that the T924C marker in the TBXA2R gene is associated, in Chinese children, with an increased susceptibility of developing atopic asthma. This marker is also associated with the extent of allergic sensitization to cat, as well as with reduced FEV₁ and FVC values.