Shen Bo, Lin Rong, Wang Cai-Chun, Rei Jing, Sun Yan, Yang Yong-Le, Lin Ying-Ying
Key Laboratory of Tropical Diseases and Translational Medicine, Ministry of Education and Hainan Provincial Key Laboratory of Tropical Medicine, Hainan Medical College, Haikou, Hainan 571199, P.R. China.
Pediatric Department, Haikou Hospital of the Maternal and Child Health, Haikou, Hainan 570203, P.R. China.
Biomed Rep. 2017 Mar;6(3):323-328. doi: 10.3892/br.2017.854. Epub 2017 Feb 8.
A disintegrin and metalloprotease 33 () is an asthma susceptibility gene that has been proven to be present in certain human populations. The Li population is a minority ethnic group, most of whom maintain a distinctive lifestyle on Hainan Island in southern China. To the best of our knowledge, no previous study has established whether polymorphisms are associated with asthma in the Li population. Therefore, the polymorphisms in a Li population were investigated in the present study. A total of 150 asthma patients and 100 healthy subjects were enrolled in the present study, and their DNA samples were evaluated to analyze eight single-nucleotide polymorphisms (SNPs) on the gene. Asthma patients were subcategorized into low and high severity groups, and their SNP data were compared with the data of the control subjects. Single-marker and haplotype association was analyzed to demonstrate the association between SNPs and asthma using multiple genetic statistic tests. The results indicated significant differences in allele frequencies at the SNPs rs44707/T2 (P=0.008), rs2787094/V4 (P=0.028) and rs2280089/T+1 (P=0.021) between asthma patients and control subjects. The SNP rs44707/T2 was also found to be associated with the high severity group (P=0.024), although SNPs rs2787094/V4 were associated with the low severity group (P=0.019). Two haplotypes, GGAGAGT and GAAGGGT, were significantly associated with asthma (P=0.003 and 0.008, respectively). To the best of our knowledge, this is the first time that SNP rs2280089/T+1 has been reported to be associated with asthma in an Asian population. These data confirm that polymorphisms are associated with asthma susceptibility in the Li population and confirm the uniqueness of the Li minority population within China.
解整合素金属蛋白酶33（ADAM33）是一种哮喘易感基因，已证实在某些人群中存在。黎族是一个少数民族，他们中的大多数人在中国南方的海南岛保持着独特的生活方式。据我们所知，以前没有研究确定ADAM33基因多态性是否与黎族人群的哮喘有关。因此，本研究对黎族人群中的ADAM33基因多态性进行了调查。本研究共纳入150例哮喘患者和100例健康受试者，对他们的DNA样本进行评估，以分析ADAM33基因上的8个单核苷酸多态性（SNP）。哮喘患者被分为低严重程度组和高严重程度组，并将他们的SNP数据与对照组的数据进行比较。使用多种遗传统计测试分析单标记和单倍型关联，以证明ADAM33基因SNP与哮喘之间的关联。结果表明，哮喘患者与对照组之间在SNP rs44707/T2（P=0.008）、rs2787094/V4（P=0.028）和rs2280089/T+1（P=0.021）的等位基因频率上存在显著差异。还发现SNP rs44707/T2与高严重程度组有关（P=0.024），而SNP rs2787094/V4与低严重程度组有关（P=0.019）。两种单倍型GGAGAGT和GAAGGGT与哮喘显著相关（分别为P=0.003和0.008）。据我们所知，这是首次报道SNP rs2280089/T+1在亚洲人群中与哮喘有关。这些数据证实ADAM33基因多态性与黎族人群的哮喘易感性有关，并证实了中国黎族少数民族的独特性。
