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Variants of NFE2L2 Associated with Susceptibility to Asthma
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A7183 - Variants of NFE2L2 Associated with Susceptibility to Asthma
Author Block: M. Zhang1, J. He2; 1Department of Respiratory and Critical Care Medicine, West China Hospital, Sichuan University, Chengdu, China, 2West China Hosp Sichuan Univ, Sichuan, China.
IRationale:Nuclear transcription factor erythroid 2 p45-related factor 2 (Nrf2), encoded by NFE2L2, functions as a key transcription factor and regulates expression of antioxidant genes by binding with the antioxidant response element. Nrf2 signaling has been determined to play a protective role in asthma. The aim of our study was to investigate the relationship between single nucleotide polymorphisms (SNPs) of NFE2L2 and asthma susceptibility. Methods: 301 asthma patients and 418 age- and gender-matched healthy controls were included. Five tagSNPs (rs10497511, rs13005431, rs1962142, rs2364723 and rs6726395) were selected and genotyped by the improved multiple ligase detection reaction (iMLDR) method. Allele and genotype analysis performed in different genetic models and stratified by gender, BMI, late-onset asthma and smoking status. Analyses of linkage disequilibrium (LD) and haplotypes were performed using the Haploview software 4.2. Results: Adjusting for confounding factors, all significant tagSNPs of NFE2L2 shown as dangerous role in asthma. The frequency of rs6726395 AA was higher in the asthma group (p = 0.024, OR=1.63) and also in the late-onset and nonsmoking asthma subgroup (p = 0.027 and p = 0.008, respectively) comparing with the healthy controls. A allele of rs13005431 suggested increased risk of asthma in the not overweight and nonsmoking subgroup (p = 0.038 and p = 0.022, respectively). In addition, rs1962142 A and rs2364723 GG increased susceptibility to asthma in overweight subgroup (p = 0.009) and nonsmoking subgroup (p = 0.01), accordingly. Haplotype analysis showed that no significant haplotype was observed.Conclusions: Our study suggests that tagSNPs of NFE2L2 were associated with asthma.
Author Block: M. Zhang1, J. He2; 1Department of Respiratory and Critical Care Medicine, West China Hospital, Sichuan University, Chengdu, China, 2West China Hosp Sichuan Univ, Sichuan, China.
IRationale:Nuclear transcription factor erythroid 2 p45-related factor 2 (Nrf2), encoded by NFE2L2, functions as a key transcription factor and regulates expression of antioxidant genes by binding with the antioxidant response element. Nrf2 signaling has been determined to play a protective role in asthma. The aim of our study was to investigate the relationship between single nucleotide polymorphisms (SNPs) of NFE2L2 and asthma susceptibility. Methods: 301 asthma patients and 418 age- and gender-matched healthy controls were included. Five tagSNPs (rs10497511, rs13005431, rs1962142, rs2364723 and rs6726395) were selected and genotyped by the improved multiple ligase detection reaction (iMLDR) method. Allele and genotype analysis performed in different genetic models and stratified by gender, BMI, late-onset asthma and smoking status. Analyses of linkage disequilibrium (LD) and haplotypes were performed using the Haploview software 4.2. Results: Adjusting for confounding factors, all significant tagSNPs of NFE2L2 shown as dangerous role in asthma. The frequency of rs6726395 AA was higher in the asthma group (p = 0.024, OR=1.63) and also in the late-onset and nonsmoking asthma subgroup (p = 0.027 and p = 0.008, respectively) comparing with the healthy controls. A allele of rs13005431 suggested increased risk of asthma in the not overweight and nonsmoking subgroup (p = 0.038 and p = 0.022, respectively). In addition, rs1962142 A and rs2364723 GG increased susceptibility to asthma in overweight subgroup (p = 0.009) and nonsmoking subgroup (p = 0.01), accordingly. Haplotype analysis showed that no significant haplotype was observed.Conclusions: Our study suggests that tagSNPs of NFE2L2 were associated with asthma.
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