支气管哮喘儿童和青少年β -肾上腺素能受体变异

Eman A Toraih, Mohammad H Hussein, Ahmed Ibrahim, Nouran B AbdAllah, Eman Mohammad, Ali M Kishk, Manal S Fawzy
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引用次数: 13

摘要

人β2-肾上腺素能受体基因(ADRB2)的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ADRB2基因的两种最常见变体rs1042713 (Gly16Arg)和rs1042714 (Gln27Glu)的易感性和/或治疗反应的变化。虽然这些变异与哮喘的发展风险和严重程度无关,但纯合子个体的Gly16/Glu27单倍型具有预防哮喘发展的保护作用,并且与呼吸困难和痰产生的频率较低相关。相比之下,Arg16/Gln27单倍型与更好的治疗反应相关。这些发现表明,通过检测ADRB2基因中的rs1042713和rs1042714变体,可以分别解读哮喘发生的风险或对治疗的反应。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Beta2-adrenergic receptor variants in children and adolescents with bronchial asthma.

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.

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