Chi Xiangyu, Wang Laicheng, Wang Jing, Li Qing, Wang Xuequn, Wang Jianping, Xiao Wei
Department of Healthcare, Provincial Hospital affiliated with Shandong University, Jinan, China.
Clin Respir J. 2013 Jan;7(1):16-20. doi: 10.1111/j.1752-699X.2011.00261.x. Epub 2011 Jul 18.
Asthma is a very common disease involving genetic and environmental factors. A disintegrin and metalloproteinase 33 (ADAM33) has been one of the most exciting candidate genes for asthma since its first association with the disease in the white population. Recently, studies on the association of ADAM33 gene polymorphisms with the risk of asthma have been controversial. We therefore focused on testing the hypothesis that either single-nucleotide polymorphisms (SNPs) of the ADAM33 gene may be associated with asthma risk. The aim of this study was to evaluate the potential relationship between polymorphisms of ADAM33 and asthma in a Han population in China.
A case control study was conducted in a Han population of eastern Chinese population. A total of 329 asthma patients and a control group of 316 healthy volunteers were recruited for this study. Four polymorphic sites (F+1, S2, T2 and V4) were selected for genotyping. Genotypes were determined by the allele-specific polymerase chain reaction with fluorescence melting curves and DNA sequencing method. Data were analysed using the chi-squared test software.
Statistically significant differences in the distributions of the S2 site between patients and controls were observed (χ2=7.140, P<0.05).
These preliminary results suggest an association between ADAM33 polymorphisms S2 C/G and asthma in a Chinese Han population. The SNPs (F+1 C/T, T2 G/A and V4 C/G) of the ADAM33 gene may be the causal variants in asthma disease, but the strength of this evidence is limited by our small sample size.
哮喘是一种涉及遗传和环境因素的常见疾病。自首次在白种人群中发现其与疾病相关以来，解整合素金属蛋白酶33（ADAM33）一直是哮喘最受关注的候选基因之一。最近，关于ADAM33基因多态性与哮喘风险关联的研究存在争议。因此，我们着重检验以下假设：ADAM33基因的单核苷酸多态性（SNP）可能与哮喘风险相关。本研究的目的是评估中国汉族人群中ADAM33基因多态性与哮喘之间的潜在关系。
在中国东部汉族人群中进行了一项病例对照研究。本研究共招募了329例哮喘患者和316名健康志愿者作为对照组。选择四个多态性位点（F +1、S2、T2和V4）进行基因分型。通过等位基因特异性聚合酶链反应结合荧光熔解曲线和DNA测序法确定基因型。使用卡方检验软件分析数据。
观察到患者和对照组之间S2位点分布存在统计学显著差异（χ2 = 7.140，P < 0.05）。
这些初步结果表明，中国汉族人群中ADAM33基因多态性S2 C/G与哮喘之间存在关联。ADAM33基因的SNP（F +1 C/T、T2 G/A和V4 C/G）可能是哮喘疾病的致病变异，但由于样本量小，该证据的力度有限。
