Al-Rubaish Abdullah
Department of Internal Medicine, King Fahad Hospital of the University, College of Medicine, University of Dammam, Dammam, Saudi Arabia.
Ann Saudi Med. 2011 Nov-Dec;31(6):586-90. doi: 10.4103/0256-4947.87094.
Several polymorphisms of the β2-adrenergic receptor (β2-AR) gene have been identified, including the amino acid substitution from arginine (Arg) to glycine (Gly) at codon 16 and from glutamine (Gln) to glutamic acid (Glu) at codon 27. These substitutions affect receptor function and show significantly more agonist-promoted receptor down-regulation than cells expressing the Arg 16/Gln 27 variants. Although the ethnic dependency of this polymorphism has been described in other populations, no studies investigating its relationship to asthma have been conducted in the Saudi population . Therefore, our main objective was to determine the prevalence of these two mutations among patients with asthma in the Eastern Province and in matched healthy controls.
A case-control study conducted at a university hospital among Saudi patients.
Blood samples were collected from 73 asthmatic patients and from 85 controls, and the β2-AR gene polymorphisms at codon 16 and codon 27 were assessed by restriction fragment length polymorphism.
Although a significant difference was observed in genotype frequencies at codon 16 (Arg/Gly) between the asthmatic and normal control subjects (P<.05), no statistically significant difference was observed in allele frequencies between the two groups. In addition, no statistically significant differences were observed in genotype and allele frequencies at codon 27 (Gln/Glu) between the normal (control) and asthmatic groups (β2=0.75, P>.68). Using the THESIAS statistical program, no significant association of any haplotype with asthma was found.
Our findings indicate a poor association of individual single-nucleotide polymorphisms with asthma. However, further study is required to ascertain the interactions of different haplotypes and the response of patients with different haplotypes to various treatments.
已鉴定出β2 - 肾上腺素能受体（β2 - AR）基因的几种多态性，包括第16密码子处从精氨酸（Arg）到甘氨酸（Gly）的氨基酸替换以及第27密码子处从谷氨酰胺（Gln）到谷氨酸（Glu）的替换。这些替换会影响受体功能，并且与表达Arg 16/Gln 27变体的细胞相比，显示出明显更多的激动剂促进的受体下调。尽管这种多态性的种族依赖性已在其他人群中有所描述，但尚未在沙特人群中开展关于其与哮喘关系的研究。因此，我们的主要目的是确定东部省份哮喘患者及匹配的健康对照人群中这两种突变的患病率。
在一家大学医院对沙特患者进行的病例对照研究。
采集了73例哮喘患者和85例对照者的血样，并通过限制性片段长度多态性评估第16密码子和第27密码子处的β2 - AR基因多态性。
尽管哮喘患者与正常对照受试者在第16密码子（Arg/Gly）的基因型频率上存在显著差异（P <.05），但两组之间的等位基因频率未观察到统计学上的显著差异。此外，正常（对照）组与哮喘组在第27密码子（Gln/Glu）的基因型和等位基因频率上也未观察到统计学上的显著差异（β2 = 0.75，P >.68）。使用THESIAS统计程序，未发现任何单倍型与哮喘有显著关联。
我们的研究结果表明个体单核苷酸多态性与哮喘的关联性较差。然而，需要进一步研究以确定不同单倍型之间的相互作用以及不同单倍型患者对各种治疗的反应。
