Association of genetic variants with level of asthma control in the Arab population
Association of genetic variants with level of asthma control in the Arab population
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DOI：
10.2147/jaa.s186252
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发表时间：
2019-01-01
影响因子：
3.2
通讯作者：
Al-Quasmi, Mohammed N.
中科院分区：
文献类型：
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作者：
Almomani, Basima A.;Al-Eitan, Laith N.;Al-Quasmi, Mohammed N.
背景：在过去十年中，约旦的哮喘发病率增加了一倍，但这种增加的患病率并没有得到改善的哮喘控制方案的满足。本研究的目的是评估哮喘控制水平与5个基因（ADRB2； rs1042713和rs1042714）、（CRHR1; rs1876828， rs242939和rs242941）、（STIP1; rs2236647）、（ADH5, rs1154400）和（ARG1; rs2781659）的某些单核苷酸多态性（snp）之间是否存在显著关联。这些snp的选择是基于它们参与与哮喘途径和随后的药物反应相关的酶和受体，以及基于高度的连锁不平衡。患者和方法：于2016年6月至2017年6月在约旦两家大医院进行了横断面遗传关联研究。目前的研究涉及从两个表型组（即控制哮喘和不控制哮喘）中选择的阿拉伯裔成年哮喘患者的抽样。收集了参与者的血液样本和医疗数据。根据标准操作程序提取DNA样本，定量并进行基因分型。使用Haploview (R)进行等位基因和单倍型分析。结果：本研究共纳入245例阿拉伯哮喘患者。基因分型分析显示，ADRB2基因的两个snp （rs1042713和rs1042714）及其相关单倍型与约旦人群哮喘控制在名义上显著相关。rs1042713的a等位基因和rs1042714的c等位基因在哮喘未控制组比哮喘控制组更常见（P=0.048和P=0.017）。结论：这是第一个确定阿拉伯人群哮喘控制水平与ADRB2基因遗传变异之间存在显著关联的研究。建议在其他阿拉伯地区进行更大样本量的进一步研究以证实这种关系。
Background: Rates of asthma in Jordan have been doubled in the past decade, but this increased prevalence was not met with improved asthma control protocols. The aim of the present study was to assess whether there was any significant association between the level of asthma control and certain single-nucleotide polymorphisms (SNPs) in five genes: (ADRB2; rs1042713 and rs1042714), (CRHR1; rs1876828, rs242939, and rs242941), (STIP1; rs2236647), (ADH5, rs1154400), and (ARG1; rs2781659). These SNPs were selected based on their involvement in enzymes and receptors that are related to asthma pathways and subsequent response to medication and based on a high degree of linkage disequilibrium.Patients and methods: A cross-sectional genetic association study was conducted from June 2016 to June 2017 in the two major hospitals in Jordan. The present study involved sampling from adult asthmatic patients of Arab descent who were selected from two phenotypic groups, ie, controlled and uncontrolled asthma. The blood samples and medical data were collected from the participants. DNA samples were extracted, quantified, and genotyped according to standard operating procedure. Allelic and haplotypic analyses were performed using the Haploview (R).Results: A total of 245 Arab asthmatic patients were enrolled in this study. Genotyping analysis revealed that the two SNPs (rs1042713 and rs1042714) in ADRB2 gene, along with their related haplotypes, were nominally significantly associated with asthma control in the Jordanian population. The A-allele of rs1042713 and the C-allele of rs1042714 were more common in the uncontrolled asthma group than in the controlled asthma group (P=0.048 and P=0.017, respectively).Conclusion: This was the first study that identified the nominal significant association between the level of asthma control and genetic variants in ADRB2 gene in Arab population. Further studies in other Arab region with larger sample size are recommended to confirm the relationship.