IL-4和IL-4R基因多态性与哮喘的相关性  

Association study of bronchial asthma with polymorphisms of IL-4 and IL-4R receptor genes

作　　者：梁文华 周兆山 吉中强 王燕青 薛卫林 张小燕[3] 

机构地区：[1]山东省青岛市海慈医疗集团肺病科,266033 [2]山东省青岛市海慈医疗集团心内科,266033 [3]上海生物芯片国家工程研究中心

出　　处：《中华医学遗传学杂志》2014年第1期97-100,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（No.C190401）

摘　　要：目的探讨白细胞介素4（interleukin-4，IL-4）基因和白细胞介素4受体（interleukin-4receptor，IL-4R）基因多态性与青岛地区汉族成人哮喘的相关性。方法应用SNaPshot方法对400例哮喘患者和200名正常对照的儿4基因启动子区rs2243250、rs2243283和IL-4R基因rs1805012、rs1801275、rs1805010共5个多态位点的基因多态性进行检测。结果哮喘组rs1805012位点TC基因型频率为8．8％，低于对照组的15．5％，差异有统计学意义（X^2=6．498，P=0．039），哮喘组TC＋CC基因型频率为9．0％，低于对照组的15．5％，差异有统计学意义（X^2=5．522，P=0．019）；哮喘组C等位基因频率为4．6％，低于对照组的7．7％，差异有统计学意义（X^2=4．729，P=0．039）。其余rs2243250、rs2243283、rs1801275和rs1805010这4个位点的基因型和等位基因频率在哮喘组与对照组间差异无统计学意义（P〉0．05）。IL-4单倍型频率在哮喘组与对照组间差异亦无统计学意义（P〉0．05）。结论IL-4R基因rs1805012位点多态性与青岛地区汉族成人哮喘存在相关性，其TC＋CC基因型可能是哮喘病的保护因子。但是IL-4的基因多态性与青岛地区汉族成人哮喘无相关关系。Objective To assess the association of polymorphisms of IL-4 gene （rs2243250, rs2243283） and IL-4R gene （rs1805012, rs1801275, rslS05010） with susceptibility to asthma among ethnic Chinese in Qingdao. Methods For 400 asthma patients and 200 healthy subjects, above polymorphisms were detected with SnaPshot method. Results For rs1805012, the frequency of TC genotype in the asthma group was significantly lower than the control group （8.8% vs. 15.5%, X^2 =6. 498, P=0. 039）, and so were the frequencies of TC＋CC genotypes （9.0% vs. 15. 5%, X^2= 5. 522, P=0. 019） and the C allele （4.6% vs. 7.7%,X^2 =4. 729, P=0. 039）. No significant difference was detected between the two groups in the frequency of the remaining four polymorphisms or the haplotypes formed by rs2243250 and rs2243283 （All P〉0. 05）. Conclusion This study has indicated that rs1805012 polymorphism of IL-4R gene is associated with asthma in ethnic Han Chinese from Qingdao region. TC＋ CC genotypes have a protective role against asthma compared with TT genotype. However, polymorphisms of IL-4 gene are not associated with susceptibility to asthma.

关 键 词：哮喘 IL-4基因 IL-4R基因 单核苷酸多态性 关联研究 

分 类 号：R562.25[医药卫生—呼吸系统]