组胺受体基因 HRH1、HRH2 和 HRH4 在 NSAIDs 过敏患者中的变异性。
Variability in histamine receptor genes HRH1, HRH2 and HRH4 in patients with hypersensitivity to NSAIDs.
机构信息
Departamento de Bioquímica y Biología Molecular y Genética, Universidad de Extremadura, Avda de la Universidad s/n 10071-Cáceres, Spain.
出版信息
Pharmacogenomics. 2013 Nov;14(15):1871-8. doi: 10.2217/pgs.13.155.
AIM
Histamine plays an important role in the pathogenesis of allergic diseases. Genetic variations in histamine receptors (HRH) may influence the expression of allergic diseases. This study analyzes the association between HRH variants and NSAID hypersensitivity reactions.
PATIENTS & METHODS: The authors analyzed copy number variations (CNVs) and common functional SNPs in genes HRH1, HRH2 and HRH4 in 442 unrelated patients with hypersensitivity to NSAIDs and in 414 healthy unrelated controls.
RESULTS
The authors identified, both in patients and control subjects, individuals carrying CNVs in HRH genes. The most common genotype corresponded to two copies of each gene, but carriers of one or three copies of HRH1 (5% of individuals), HRH2 (1.1%) and HRH4 genes (0.9%) were also identified.
CONCLUSION
For the first time, we describe CNVs in human HRH genes. Neither common functional SNPs in HRH genes nor CNVs influenced the risk of developing hypersensitivity to NSAIDs.
目的
组胺在过敏性疾病的发病机制中起着重要作用。组胺受体（HRH）的遗传变异可能影响过敏性疾病的表达。本研究分析了 HRH 变异与 NSAID 过敏反应之间的关系。
患者和方法
作者分析了 442 例对 NSAIDs 过敏的无关联患者和 414 例健康无关联对照者中 HRH1、HRH2 和 HRH4 基因的拷贝数变异（CNVs）和常见功能 SNP。
结果
作者在患者和对照者中均发现了 HRH 基因的 CNVs。最常见的基因型对应于每个基因的两个拷贝，但也发现了 HRH1（5%的个体）、HRH2（1.1%）和 HRH4 基因（0.9%）的一个或三个拷贝的携带者。
结论
我们首次描述了人类 HRH 基因的 CNVs。HRH 基因的常见功能 SNP 或 CNVs 均不影响 NSAIDs 过敏反应的风险。
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