Wang P, Liu Q J, Li J S, Li H C, Wei C H, Guo C H, Gong Y Q
Institute of Medical Genetics, School of Medicine, Shandong University, Jinan, China.
Int J Immunogenet. 2006 Aug;33(4):303-6. doi: 10.1111/j.1744-313X.2006.00617.x.
Asthma is a complex polygenic disease with gene-environment interactions being important. It has been previously suggested that ADAM33, which is a member of a gene family that encodes membrane-anchored proteins with a disintegrin and a metalloprotease domain, is primarily expressed in lung fibroblasts and bronchial smooth muscle cells and has been associated with airway remodelling and bronchial hyperresponsiveness. A significant association has previously been demonstrated between single nucleotide polymorphisms (SNPs) and haplotypes of the ADAM33 and asthma in ethnically diverse populations. To assess whether SNPs or haplotypes of ADAM33 are related to asthma in a Chinese Han population, we genotyped three SNPs of ADAM33 (7575G/A in intron 6, 11188A/T in intron 19, and 12433T/C in exon 20) in a case-control study involving 296 patients with asthma and 270 healthy controls. No significant association was detected between these three SNPs and asthma susceptibility in the Chinese population.
哮喘是一种复杂的多基因疾病，基因与环境的相互作用起着重要作用。先前有研究表明，ADAM33是一个基因家族的成员，该家族编码具有解整合素和金属蛋白酶结构域的膜锚定蛋白，主要在肺成纤维细胞和支气管平滑肌细胞中表达，并与气道重塑和支气管高反应性有关。先前在不同种族人群中已证明ADAM33的单核苷酸多态性（SNP）和单倍型与哮喘之间存在显著关联。为了评估ADAM33的SNP或单倍型是否与中国汉族人群的哮喘有关，我们在一项病例对照研究中对296例哮喘患者和270例健康对照进行了ADAM33的三个SNP（内含子6中的7575G/A、内含子19中的11188A/T和外显子20中的12433T/C）基因分型。在中国人群中，未检测到这三个SNP与哮喘易感性之间存在显著关联。
