白细胞介素10基因单核苷酸多态性与哮喘遗传易感性的相关性研究

目的探讨白细胞介素10（IL-10）基因三个单核苷酸多态性位点（rs1800896、rs3024496和rs3024492）与哮喘遗传易感性的相关性。方法应用基质辅助激光解吸附电离飞行时间质谱（MALDI-TOF-MS）平台及MassARRAY-IPLEX技术,分别对广州地区汉族人群中275例正常对照组和302例哮喘患者组IL-10三个单核苷酸多态性位点（rs1800896、rs3024496和rs3024492）进行基因分型并分析两组间分布情况。用2检验统计分析病例组和对照组基因型和等位基因的频率;采用非条件Logistic回归分析,校正性别、年龄影响,计算比数比（OR）和95%可信区间（CI）,评价多态性位点与哮喘遗传易感性的相关性。结果①rs1800896位点在广州地区汉族人群中存在GG、GA、AA三种多态性,其总分布频率分别为2.12%、39.65%、58.23%,携带GA杂型者患哮喘的危险性高于AA基因型者。②rs3024492位点在广州地区汉族人群中只存在AA和AT两种基因型,其总分布频率分别为1.22%和98.78%,该位点的多态性与哮喘的易感性无关。③rs3024496位点在广州地区汉族人群中也只存在TT和CT两种基因型,其总分布频率分别为90.59%和9.41%,该位点的多态性与哮喘的易感性无关。结论在IL-10三个单核苷酸多态性位点中,rs1800896与哮喘的易感性显著相关,而rs3024492和rs3024496与哮喘的易感性不相关。

Association of Sing1e Nucleotide Polymorphisms in Interleukin-10 Gene with Asthma

Objective To explore whether interleukin-10（IL-10） gene single nucleotide polymorphisms are associated with asthma.Methods The frequency of three single nucleotide polymorphisms（rs1800896,rs3024492,and rs3024496） and haplotypes of IL-10 gene were analysed in 302 adult asthmatic subjects and 275 controls of Han Chinese in Guangzhou using MALDI-TOF-MS and MassARRAY-IPLEX. The genotype and allele frequencies were analyzed by Chi-square test in both groups.Logistic regression analysis with adjustment for age and sex was conducted.Odds ratio（OR） and 95% confidence interval（95%CI） were calculated to analyze the associations between the susceptibility of asthma and genotypes.Results ①Three genotypes GG,GA,and AA of rs1800896 were found in Han Chinese in Guangzhou.The frequencies of GG,GA,and AA genotypes were 2.12%,39.65%,and 58.23%,respectively.The relative risk of developing asthma in the carriers of GA was significantly higher than that in the carriers of AA（OR=4.827,P0.001）.②Two genotypes AA and AT of rs3024492 were found in Han Chinese in Guangzhou.The frequencies of AA and AT genotypes were 1.22% and 98.78%,respectively.The rs3024492 polymorphism was not related to susceptibility in asthma.③Two genotypes TT and CT of rs3024496 were found in Han Chinese in Guangzhou.The frequencies of TT and CT genotypes were 90.59% and 9.41%,respectively.The rs3024496 polymorphism was not related to susceptibility in asthma.Conclusion In IL-10 gene single nucleotide polymorphisms,rs1800896 but not rs3024492 and rs3024496 is statistically related with the development of asthma.