Asthma: Gln27Glu and Arg16Gly polymorphisms of the beta2-adrenergic receptor gene as risk factors
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- 作者：Ana Carolina Zimiani de Paiva (1)
Fernando Augusto de Lima Marson (1) (2)
José Dirceu Ribeiro (2)
Carmen Sílvia Bertuzzo (1) - 关键词：Asthma ; ADRB2 gene ; Lung disease ; Arg16Gly ; Gln27Glu
- 刊名：Allergy, Asthma & Clinical Immunology
- 出版年：2014
- 出版时间：December 2014
- 年：2014
- 卷：10
- 期：1
- 全文大小：436 KB
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Fernando Augusto de Lima Marson (1) (2)
José Dirceu Ribeiro (2)
Carmen Sílvia Bertuzzo (1)
1. Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas (Unicamp), Campinas, S?o Paulo, zip code: 13081-970, Brazil
2. Department of Pediatrics, Faculty of Medical Sciences, State University of Campinas (Unicamp), Tessália Vieira de Camargo, 126, Campinas, SP, zip code: 13081-970, Brazil - ISSN：1710-1492
文摘
Background Asthma is caused by both environmental and genetic factors. The ADRB2 gene, which encodes the beta 2-adrenergic receptor, is one of the most extensively studied genes with respect to asthma prevalence and severity. The Arg16Gly (+46A-gt;?G) and Gln27Glu (+79C-gt;?G) polymorphisms in the ADRB2 gene cause changes in the amino acids flanking the receptor ligand site, altering the response to bronchodilators and the risk of asthma through complex pathways. The ADRB2 polymorphisms affect beta-adrenergic bronchodilator action and are a tool to identify at-risk populations. Objective To determine the frequency of these two polymorphisms in allergic asthma patients and healthy subjects and to correlate these data with the occurrence and severity of asthma. Methods Eighty-eight allergic asthma patients and 141 healthy subjects were included in this study. The ADRB2 polymorphisms were analyzed using the amplification-refractory mutation system -polymerase chain reaction (ARMS-PCR) technique. The statistical analysis was performed with the SPSS 21.0 software using the Fisher’s Exact and χ2 tests. Results The ADRB2 polymorphisms were associated with asthma occurrence. The Arg16Arg, Gln27Gln and Gln27Glu genotypes were risk factors; the odds ratios were 6.782 (CI--.07 to 16.03), 2.120 (CI--.22 to 3.71) and 8.096 (CI--.90 to 17.77), respectively. For the Gly16Gly and Glu27Glu genotypes, the odds ratios were 0.312 (CI--.17 to 0.56) and 0.084 (CI--.04 to 0.17), respectively. The haplotype analysis showed that there were associations between the following groups: Arg16Arg-Gln27Gln (OR--.108, CI--.82 to 16.37), Gly16Gly-Glu27Glu (OR--.816, CI--.25 to 6.54), Arg16Gly-Gln27Glu (OR--.048, CI--.01 to 0.14) and Gly16Gly-Gln27Glu (OR--.1036, CI--.02 to 0.39). The polymorphism Gln27Glu was associated with asthma severity, as the Gln27Gln genotype was a risk factor for severe asthma (OR--.798, CI--.099 to 6.674) and the Gln27Glu genotype was a protective factor for mild (OR--.063, CI--.037 to 9.041) and severe (OR--.182, CI--.048 to 0.691) asthma. Conclusions The Arg16Gly and Gln27Glu polymorphisms in the ADRB2 gene are associated with asthma presence and severity.