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目的研究信号转导和转录激活因子6(STAT6)基因rs324015位点多态性与青岛汉族支气管哮喘(哮喘)患儿易感性的关系。方法应用PCR-限制性片段长度多态性(RFLP)的方法对青岛汉族113例哮喘患儿(哮喘组)、87例无血缘关系的汉族无变应性疾病及其他疾病的健康儿童(健康对照组)进行STAT6基因rs324015位点多态性分析;Hardy-Weinberg遗传平衡检验方法进行基因分布遗传平衡吻合度检验。结果 1.健康对照组和哮喘组STAT6基因rs324015位点各基因型频率分布均符合Hardy-Weinberg平衡检验,具有群体代表性。2.哮喘组GG、GA及AA 3种基因型分布频率分别为15.9%、46.9%和37.2%,健康对照组儿童其分布频率分别为21.8%、59.8%和18.4%,2组间基因型分布差异具有统计学意义(χ2=8.445,P<0.05),且不同基因型患哮喘的危险性不一样,AA基因型与GA、GG基因型比较患哮喘的危险性明显增加[OR(AA/GA)=2.575,95%CI:1.290～5.141,P<0.01;OR(AA/GG)=2.771,95%CI:1.167～6.577,P<0.05];基因型GA与GG间,患哮喘的危险性无统计学差异(OR=1.076,95%CI:0.508～2.277,P>0.05)。哮喘组患儿G、A等位基因分布频率分别为39.3%和60.6%,对照组分别为51.7%、48.2%,2组等位基因分布频率比较,差异有统计学意义(χ2=6.058,P<0.05),且A等位基因携带者哮喘患病率是非携带者的1.649倍[OR(A/G)=1.649,95%CI:1.106～2.459,P<0.05]。结论 STAT6基因rs324015位点多态性可能与汉族儿童哮喘易感性相关,突变纯合子AA携带者患哮喘的危险性大,A等位基因为导致哮喘患儿发病的优势等位基因。
Objective To investigate the relationship between rs324015 polymorphism of signal transducer and activator of transcription 6 (STAT6) gene and susceptibility to asthma in Han nationality in Qingdao. Methods A total of 113 asthmatic children with asthma in Qingdao Han nationality and 87 unrelated healthy Han children without allergic diseases and other diseases were enrolled in this study by PCR-restriction fragment length polymorphism (RFLP) Group), rs64015 polymorphism of STAT6 gene was analyzed. Hardy-Weinberg genetic equilibrium test was used to test the genetic distribution of genetic balance. Results 1. The frequency distribution of rs324015 locus of STAT6 gene in healthy control group and asthmatic group all accorded with Hardy-Weinberg equilibrium test and had population representativeness. The frequencies of GG, GA and AA genotypes in asthma group were 15.9%, 46.9% and 37.2%, respectively, and those in healthy control group were 21.8%, 59.8% and 18.4% respectively. The distribution of genotypes among the two groups The difference was statistically significant (χ2 = 8.445, P <0.05), and the risk of asthma was different in different genotypes. The risk of asthma in AA genotype was significantly increased compared with GA and GG genotypes [OR (AA / GA ) = 2.575, 95% CI: 1.290-5.141, P <0.01; OR (AA / GG) = 2.771,95% CI: 1.167-6.577, P <0.05] No significant difference (OR = 1.076, 95% CI: 0.508 ~ 2.277, P> 0.05). The frequencies of allele G and A in children with asthma were 39.3% and 60.6% respectively, while those in control group were 51.7% and 48.2% respectively. There was significant difference in allele frequencies between two groups (χ2 = 6.058, P <0.05), and the prevalence of asthma in carriers of A allele was 1.649 times that of non-carriers [OR (A / G) = 1.649, 95% CI: 1.106-2.459, P <0.05]. Conclusion The rs324015 polymorphism of STAT6 gene may be associated with the susceptibility to asthma in Han children, and the mutation homozygous AA carriers are at high risk of asthma. The A allele is the predominant allele of asthma in children.