ADAM33 polymorphisms are associated with aspirin-intolerant asthma in the Japanese population
ADAM33 polymorphisms are associated with aspirin-intolerant asthma in the Japanese population
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DOI：
10.1007/s10038-006-0081-6
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发表时间：
2007-01-01
影响因子：
3.5
通讯作者：
Gejyo, Fumitake
中科院分区：
文献类型：
--
作者：
Sakagami, Takuro;Jinnai, Nobuyoshi;Gejyo, Fumitake
据报道，ADAM33 内的多个单核苷酸多态性 (SNP) 与白种人群体中的哮喘和支气管高反应性相关。我们研究了这些 SNP 是否会导致日本人群罹患哮喘，尤其是阿司匹林不耐受性哮喘 (AIA)。通过直接测序对 102 名 AIA 患者、282 名阿司匹林耐受性哮喘 (ATA) 患者和 120 名对照 (CTR) 受试者的 10 个多态性位点（ST+4、ST+7、T1、T2、T+1、V-3、V-2、V-1、V4、V5）进行基因分型。通过期望最大化方法估计单倍型频率。通过卡方和排列检验分析表型之间等位基因和单倍型频率的差异。 AIA组的ST+7、V-1和V5位点与ATA组(P=0.034-0.004)和CTR组(P=0.019-0.002)有显着差异。在AIA组和ATA组(P=0.008)或CTR组(P=0.001)之间，三个位点(ST+7、V-1和V5)的单倍型频率显着不同。 ADAM33 的序列变异可能与日本人群对 AIA 的易感性相关。
Multiple single nucleotide polymorphisms (SNPs) within ADAM33 have been reported to be associated with asthma and bronchial hyper-responsiveness in Caucasian populations. We examined whether these SNPs contribute to a predisposition to asthma, especially aspirin-intolerant asthma (AIA), in the Japanese population. Ten polymorphic sites (ST+4, ST+7, T1, T2, T+1, V-3, V-2, V-1, V4, V5) were genotyped in 102 AIA patients, 282 aspirin-tolerant asthma (ATA) patients and 120 control (CTR) subjects by direct sequencing. Haplotype frequencies were estimated by the expectation-maximization method. Differences in allele and haplotype frequencies among phenotypes were analyzed by the chi-square and permutation tests. ST+7, V-1 and V5 sites in the AIA group were significantly different from those in the ATA group (P=0.034-0.004) and from those in the CTR group (P=0.019-0.002). Haplotypes at three sites (ST+7, V-1, and V5) were significantly different in frequency between the AIA and ATA (P=0.008) or CTR (P=0.001) groups. Sequence variations in ADAM33 are likely to correlate with susceptibility to AIA in the Japanese population.