IL-4R、IL-13、ADAM33基因多态性与中国皖南地区汉族人群支气管哮喘的相关性研究

Study on association between IL-4R,IL-13 and ADAM33 gene mutation and asthmatic patients of with Bronchial Asthma in Han nationality of Wannan Area

目的:探讨IL-4受体基因Arg551Gln(rs1801275)、IL-13基因Arg130Gln(rs20541)、ADAM33基因T1(rs2280091)位点基因多态性与中国皖南地区汉族人群支气管哮喘的相关性。方法:采用病例-对照的方法,用聚合酶链反应及直接基因测序法比较116例支气管哮喘组与70例正常人对照组之间基因型、等位基因频率的差异。结果:哮喘组和对照组IL-4受体基因Arg551Gln位点和IL-13基因Arg130Gln位点的基因型和等位基因型频率的差异有统计学意义,ADAM33基因T1位点基因型哮喘组和对照组差异有统计学意义,等位基因型频率在哮喘组和对照组差异无统计学意义。结论:提示IL-4R Arg551Gln(rs1801275)位和IL-13基因Arg130Gln(rs20541)位的多态性可能与中国皖南地区汉族哮喘有相关性;ADAM33基因(rs2280091)T1位点位的多态性可能与中国皖南地区汉族哮喘无相关性。

Objective：To investigate the association between polymorphism of IL-4R,IL-13,ADAM33 gene and asthma by analyzing genotypes and alleles frequency of IL-4R gene in loci of rs1801275,IL-13 gene rs20541 and ADAM33 gene rs2280091 from asthmatic people of Han nationality in Wanan,China.Methods：To determine the genotypes of IL-4R gene in loci of rs1801275,IL-13 gene rs20541 and ADAM33 gene rs2280091 were determined with polymerase chain reaction technique and direct gene sequencing analysis.Then the genotypes and alleles frequency of the genes the asthmatic group were compared with that of healthy control group.Results：IL-4R gene in loci of rs1801275 and IL-13 gene rs20541 had significant differences in genotypes and alleles frequency in asthmatic and control group.ADAM33 gene in loci of rs2280091 had significant differences in genotypes gene between asthmatic and control group,and the alleles frequency in asthma group and control group was shown no significant difference.Conclusion：The result suggests that IL-4R gene in loci of rs1801275 and IL-13 gene rs20541 may be susceptibility gene of asthmatic patients of Han nationality of in Wannan,China;ADAM33 gene rs2280091 locus genetic polymorphism is weakly associated with asthma.