Wang Qiang, Bai Xuetao, Xu Donggang, Xu Dongqun, Li Hong, Fang Jianlong, Zhu He, Fu Wenliang, Cai Xin, Wang Jinfeng, Jin Zhe, Wang Qin, Xu Chunyu, Chang Junrui
Institute for Environmental Health and Related Product Safety, Chinese Center for Disease Control and Prevention, Beijing 100021, China.
Wei Sheng Yan Jiu. 2009 Sep;38(5):516-21.
To explore TRPV1 UTR-3 polymorphism and susceptibility of childhood asthma of Han Nationality in Beijing.
177 asthmatics, 44 atopy, and 151 control children less than 14-years-old were enrolled in case-control study, and all subjects were investigated by ISSAC questionnaires. Dominant, recessive, co-dominant, over-dominant, and log additive model were used to do genotype analysis, and LD analysis and haplotypes of SNPs were tested by Haploview 4.1. Hardy-Weinberg equilibrium test, Person chis-square test, linkage disequilibrium analysis, and logistic analysis were performed by SAS 9.1 software to determine the association between polymorphisms of TRPV1 and susceptibility of childhood asthma.
Polymorphisms were found in rs402369, rs4790521, and rs4790522, Hardy-Weinberg P > 0.05. As to allele frequencies, frequency of SNP rs4790521 T/C in asthmatics were significantly increased (P < 0.05), no significant difference were found in MAF of rs402369 and rs4790522 (P > 0.05). Genotype analysis showed that rs4790521 C/C and rs4790522 A/C were associated with childhood asthma (P < 0.05), and odd ratios were 2.94 (1.32 - 6.53) and 0.588 (0.376 - 0.920) respectively. LD were found between rs4790521 and rs4790522, 3 haplotypes were built. Adjusted by age, gender, parent asthma history, and smoking exposure, logistic stepwise analysis showed that MAF of rs4790521, allozygote C/C of rs4790521, and haplotype C/C were associated with susceptibility to childhood asthma in Chinese Han Nationality in Beijing (P < 0.05).
TRPV1 UTR-3 polymorphisms could be associated with the susceptibility to childhood asthma of Han Nation a city in Beijing.
探讨北京汉族儿童哮喘患者瞬时感受器电位香草酸受体1（TRPV1）3′非翻译区（UTR-3）基因多态性及其与儿童哮喘易感性的关系。
采用病例对照研究方法，选取177例哮喘患儿、44例特应性体质儿童及151例14岁以下健康儿童作为研究对象，应用国际儿童哮喘及变应性疾病研究（ISSAC）问卷进行调查。采用显性、隐性、共显性、超显性及对数加性模型进行基因型分析，应用Haploview 4.1软件进行单核苷酸多态性（SNP）的连锁不平衡（LD）分析和单倍型分析。应用SAS 9.1软件进行Hardy-Weinberg平衡检验、Pearson卡方检验、连锁不平衡分析及Logistic回归分析，以确定TRPV1基因多态性与儿童哮喘易感性的关系。
在rs402369、rs4790521和rs4790522位点发现基因多态性，Hardy-Weinberg平衡检验P>0.05。等位基因频率分析显示，哮喘组rs4790521位点T/C的频率显著升高（P<0.05），rs402369和rs4790522位点的最小等位基因频率（MAF）差异无统计学意义（P>0.05）。基因型分析显示，rs4790521位点C/C基因型及rs4790522位点A/C基因型与儿童哮喘易感性相关（P<0.05），比值比（OR）分别为2.94（1.32～6.53）和0.588（0.376～0.920）。rs4790521与rs4790522位点存在LD，构建了3种单倍型。经年龄、性别、父母哮喘史及吸烟暴露因素校正后，Logistic逐步回归分析显示，rs4790521位点的MAF、rs4790521位点的纯合子C/C基因型及单倍型C/C与北京汉族儿童哮喘易感性相关（P<0.05）。
TRPV1 UTR-3基因多态性可能与北京汉族儿童哮喘易感性相关。
