Beta2-adrenergic receptor variants in children and adolescents with bronchial asthma.
Beta2-adrenergic receptor variants in children and adolescents with bronchial asthma.
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患有支气管哮喘的儿童和青少年的β2-肾上腺素受体变异。
DOI：
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发表时间：
2019
期刊：
影响因子：
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通讯作者：
M. Fawzy
中科院分区：
文献类型：
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作者：
E. Toraih;M. Hussein;A. Ibrahim;N. AbdAllah;E. Mohammad;Ali Kishk;M. Fawzy
人β2-肾上腺素能受体基因（ADRB 2）N端编码区存在多种多态性。为此，我们研究了175名哮喘儿童和青少年中两种最常见的ADRB 2基因变体（即rs 1042713（Gly 16 Arg）和rs 1042714（Gln 27 Glu））的易感性和/或治疗反应的变化。虽然这些变异与哮喘的发生风险和严重程度无关，但Gly 16/Glu 27单倍型在纯合子个体中可保护哮喘的发生，并与较低的呼吸困难和痰液产生频率相关。相反，Arg 16/Gln 27单倍型与更好的治疗反应相关。这些发现表明，哮喘发生的风险或对治疗的反应可以分别通过检测ADRB 2基因中的rs 1042713和rs 1042714变体来破译。
The region encoding the N-terminal of human β2-adrenergic receptor gene (ADRB2) shows several polymorphisms. To this end, we studied change in susceptibility and/or response to therapy in 175 asthmatic children and adolescents by the two most common variants of the ADRB2 gene namely, rs1042713 (Gly16Arg) and rs1042714 (Gln27Glu). Although, the variants did not correlate with risk of development nor with the severity of the asthma, Gly16/Glu27 haplotype in homozygous individuals conferred protection against development of asthma and was associated with a lower frequency of dyspnea and sputum production. In contrast, the Arg16/Gln27 haplotype was associated with a better response to treatment. These findings show that the risk of development of asthma or response to treatment can be, respectively, deciphered by the detection of both rs1042713 and rs1042714 variants in ADRB2 gene.