Córdova Emilio J, Jiménez-Morales Silvia, Centeno Federico, Martinez-Hernández Angélica, Martínez-Aguilar Nora, Del-Río-Navarro Blanca E, Gómez-Vera Javier, Orozco Lorena
Laboratorio de Inmunogenómica y enfermedades metabólicas, Instituto Nacional de Medicina Genómica, SSA.
Rev Invest Clin. 2011 Jul-Aug;63(4):407-11.
Environmental factors causing oxidative stress are known to be associated with asthma morbidity. The antioxidative gene NFE2L2 has been implicated in asthma development in mice models. In humans, the SNPs -617C/A and -653G/A, located at the promoter region of NFE2L2 gene, have been found associated with the susceptibility to develop diverse chronic-degenerative diseases.
To determine if there is association of the -617C/A and -653G/A NFE2L2 SNPs and childhood-onset asthma in a Mexican population.
In a case-control study 242 unrelated patients with diagnosis of asthma and 358 ethnically- and sex-matched healthy individuals were included. The -617C/A and -653G/A NFE2L2 genotyping was carried out using the TaqMan allelic discrimination assay.
The risk allele of both polymorphisms showed a high frequency in our sample (-617A: 24% and -653A: 40%), similarly to those previously reported in Asiatic populations (-617A: 24-29% and -653A: 42-52%; p > 0.05). In contrast, the -617A allele frequency was higher than that reported in a European-African admixed population (10%, p < 0.001). The allelic and genotypic frequencies from both polymorphisms showed no significant differences among cases and controls in female and male samples. Likewise, haplotype analysis found no association between NFE2L2 gene variants and the disease.
Despite the experimental evidence suggesting that NFE2L2 gene is involved in asthma pathogenesis, the -617C/A and -653G/A SNPs were not associated with childhood-onset asthma.
已知导致氧化应激的环境因素与哮喘发病率相关。抗氧化基因NFE2L2在小鼠模型的哮喘发展中起作用。在人类中，位于NFE2L2基因启动子区域的单核苷酸多态性（SNP）-617C/A和-653G/A已被发现与多种慢性退行性疾病的易感性相关。
确定墨西哥人群中NFE2L2基因的-617C/A和-653G/A单核苷酸多态性与儿童期哮喘之间是否存在关联。
在一项病例对照研究中，纳入了242名诊断为哮喘的无亲缘关系患者和358名种族和性别匹配的健康个体。使用TaqMan等位基因鉴别分析进行NFE2L2基因的-617C/A和-653G/A基因分型。
两种多态性的风险等位基因在我们的样本中显示出高频率（-617A：24%，-653A：40%），与先前在亚洲人群中报道的频率相似（-617A：24 - 29%，-653A：42 - 52%；p>0.05）。相比之下，-617A等位基因频率高于在欧洲 - 非洲混合人群中报道的频率（10%，p<0.001）。两种多态性的等位基因和基因型频率在女性和男性样本的病例和对照之间没有显著差异。同样，单倍型分析未发现NFE2L2基因变异与疾病之间存在关联。
尽管有实验证据表明NFE2L2基因参与哮喘发病机制，但-617C/A和-653G/A单核苷酸多态性与儿童期哮喘无关。
