论文部分内容阅读
目的研究TRPV1 UTR-3基因多态性对北京汉族儿童哮喘易感性的影响。方法采用ISSAC统一问卷进行病例对照研究,从美国国家生物技术信息中心(NCBI)数据库选取TRPV1基因UTR-3区域rs58868916、rs9899485、rs4790521、rs4790522、rs402369及ENSSNP11193515作为目的SNP。通过PCR方法检测177名哮喘儿童、44名遗传性过敏症儿童及151名非哮喘对照儿童TRPV1基因多态性;通过Hardy-Weinberg平衡检验、卡方检验、连锁不平衡(LD)分析、Logistic回归分析和模型拟合,分析TRPV1基因SNP等位基因频率(MAF)、基因型及单倍型差异。结果Hardy-Weinberg平衡检验的P>0.05,满足基因型均衡要求;哮喘儿童与对照rs4790521T/C等位基因频率有显著差异(P<0.05);rs4790522A/C杂合子携带者哮喘患病风险显著低于纯合子A/A及C/C携带者(OR=0.588,95%CI=0.376～0.920,P<0.05),rs4790521隐性纯合子C/C携带者哮喘患病风险显著高于纯合子T/T及杂合子T/C携带者(OR=2.94,95%CI=1.32～6.53,P<0.01);LD分析显示rs4790521与rs4790522存在连锁不平衡(D’=0.959,r2=0.120),此2位点SNP构建出3个频率大于0.10的单倍型;通过Logistic逐步回归调整年龄、性别、家族遗传史及家庭成员吸烟等混杂因素后,rs4790521SNP的MAF、隐性纯合子C/C、及单倍型Hap2-C/C与儿童哮喘密切相关,是影响儿童哮喘易感性的重要危险因素,P值均小于0.05。结论TRPV1基因UTR-3多态性与中国北京汉族儿童哮喘易感性相关。
Objective To investigate the effect of TRPV1 UTR-3 gene polymorphism on susceptibility to asthma in Beijing Han children. Methods A case-control study was conducted using the ISSAC questionnaire. SNPs of rs58868916, rs9899485, rs4790521, rs4790522, rs402369 and ENSSNP11193515 of TRPV1 gene UTR-3 were selected from the NCBI database. The TRPV1 gene polymorphisms in 177 asthmatic children, 44 hereditary allergic children and 151 non-asthmatic children were detected by PCR. Hardy-Weinberg equilibrium, Chi-square test, linkage disequilibrium (LD) analysis, Logistic regression Analysis and model fitting, analysis TRPV1 SNP allele frequency (MAF), genotype and haplotype differences. Results Hardy-Weinberg equilibrium test of P> 0.05, to meet the needs of genotypic balance; asthma children and control rs4790521T / C allele frequency was significantly different (P <0.05); rs4790522A / C heterozygous carriers of asthma risk was significantly lower The risk of asthma in rs4790521 recessive homozygote C / C carriers was significantly higher than that in homozygote A / A carriers and C / C carriers (OR = 0.588,95% CI = 0.376-0.920, P <0.05) / T and heterozygote T / C carriers (OR = 2.94,95% CI = 1.32-6.53, P <0.01). LD analysis showed that rs4790521 and rs4790522 had linkage disequilibrium (D ’= 0.959, r2 = 0.120) 2 haplotypes with SNP greater than 0.10 were constructed by SNP 2 at two loci. MAF, recessive homozygote C / C, and homozygote of rs4790521 SNP were adjusted by Logistic stepwise regression after adjusting for age, sex, family history and family members smoking, The haplotype Hap2-C / C is closely related to childhood asthma and is an important risk factor for asthma susceptibility in children, with P values less than 0.05. Conclusion The TRPV1 UTR-3 polymorphism is associated with asthma susceptibility in Han children from Beijing, China.