Associations between decay-accelerating factor polymorphisms and allergic respiratory diseases
Associations between decay-accelerating factor polymorphisms and allergic respiratory diseases
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DOI：
10.1111/j.1365-2222.2009.03316.x
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发表时间：
2009-10-01
影响因子：
6.1
通讯作者：
Noguchi, E.
中科院分区：
文献类型：
--
作者：
Kawai, T.;Takeshita, S.;Noguchi, E.
### 背景
哮喘和过敏性鼻炎等过敏性疾病是发达国家发病的主要原因。过敏性呼吸道疾病的病理机制被认为是免疫球蛋白E（IgE）介导的I型过敏，其特征为接触过敏原后发生的黏膜炎症。这些常见疾病具有复杂的遗传因素。已知补体系统在过敏性疾病中发挥重要作用。衰变加速因子（DAF）对补体系统的调节至关重要，是确定过敏性疾病易感性的一个良好候选因素。
### 目的
本研究旨在探讨DAF基因多态性与日本人群过敏性呼吸道疾病是否相关。
### 方法
我们对DAF进行了突变筛查，并对684名患日本柳杉花粉所致季节性过敏性鼻炎（SAR）的无亲缘关系成年个体、188名对螨虫敏感的成年哮喘患者以及346名无亲缘关系的非过敏性健康对照者进行了标签单核苷酸多态性（SNP）关联分析。
### 结果
DAF位于跨度为62千碱基对（kb）的紧密连锁不平衡（LD）区域。标签SNP分析显示，rs10746463与SAR（P = 0.00033）和对螨虫敏感的成年哮喘（P = 0.044）显著相关。位于DAF启动子区域的rs2564978和rs3841376单倍型与rs10746463完全处于连锁不平衡状态（r （此处r后似乎缺少相关内容） ）
P>BackgroundAllergic diseases such as asthma and allergic rhinitis are major causes of morbidity in developed countries. The pathology underlying allergic respiratory diseases is considered to be IgE-mediated type I allergy characterized by mucosal inflammation that occurs in response to allergen exposure. They are common diseases involving a complex inheritance. Complement systems are known to play an important role in allergic diseases. Decay-accelerating factor (DAF) is important for the regulation of the complement system and is a good candidate for determining the susceptibility to allergic diseases.ObjectiveThe present study aimed to investigate whether polymorphisms in the DAF gene are associated with allergic respiratory diseases in the Japanese population.MethodsWe performed mutation screenings of DAF and conducted a tag single-nucleotide polymorphisms (SNP) association analysis for 684 unrelated adult individuals with seasonal allergic rhinitis (SAR) with Japanese ceder pollen, 188 mite-sensitive adults with asthma, and 346 unrelated non-allergic healthy controls.ResultsDAF is located in the tight linkage disequilibrium (LD) block spanning 62 kb. The tag SNP analysis revealed that rs10746463 was significantly associated with SAR (P=0.00033) and mite-sensitive adult asthma (P=0.044). The rs2564978 and rs3841376 haplotypes, which are located in the promoter region of DAF, were in complete LD with rs10746463 (r