白细胞介素4受体α链基因多态性与支气管哮喘的相关性研究

A study on the association between polyniorphisni of the interieukin-4 receptor alpha gene and bronchial asthma in a population of Han nationality

目的检测白细胞介素4受体α链(IL-4Rα)基因Ile50Val位点的多态性在汉族人群中的分布频率,探讨Ile50Val位点多态性与支气管哮喘(简称哮喘)的相关性。方法对2002至2004年间暨南大学附属第一医院呼吸科门诊及住院患者和体检者,利用扩增阻滞突变系统-聚合酶链反应(ARMS-PCR)对。103例哮喘患者(哮喘组)的IL-4Rα链基因的Ile50Val位点多态性进行检测,并与62名健康人(对照组)进行对照。结果Ile50Val位点在汉族人群中存在3种(Ile50／Ile50、Ile50／Val50、Val5O／Val50)基因型,103例哮喘组的分布频率分别为32．0％(33／103)、35．0％(36／103)、33．0％(34／103);62名对照组的分布频率分别为29．0％(18／62)、37．1％(23／62)、33．9％(21／62);各基因型分布频率哮喘组与对照组比较差异无统计学意义(X2=0．172,P>0．05)。哮喘组与对照组的Ile50、Val50等位基因频率分别为49．5％、47．6％、50．5％和52．4％;哮喘组与对照组Ile50及Val50等位基因频率比较差异无统计学意义(X2=0．116,P>0．05)。结论IL-4Rα链基因Ile50Val位点在汉族人群中存在多态性(Ile50／Ile50、Ile50／Val50、Val50／Val50);Ile50Val位点的多态性与哮喘不存在相关性。

Objective To detect the polymorphism of Ile50Val in the interleukin-4 receptor （IL- 4R） alpha gene in a population of Han nationality, and to investigate the association between the polymorphism of Ile50Val and bronchial asthma. Methods The Ile50Val polymorphism of the IL-4R alpha gene was genotyped by amplification refractory mutation system-polymerase chain reaction（ARMS-PCR） in 103 asthmatic subjects and 62 controls of Han nationality who were from the First Affiliated Hospital of Jinan University in the year 2002 - 2004. Results The frequencies of the genotypes （ Ile50/Ile50, Ile50/Val50, Val50/Val50） were respectively 32.0% （n =33）,35.0% （n =36） and 33.0% （n =34） in the 103 asthmatic subjects and respectively 29. 0% （n = 18） , 37. 1% （n =23） and 33.9% （n =21） in the 62 controls. No significant difference was found in the distributions of the genotypes（ Ile50/Ile50 ,Ile50/Val50, Val50/Val50） between the asthmatic subjects and controls（ χ^2 = 0. 172, P 〉 0. 05）. The frequencies of alleles（Ile50, Val50） were respectively 49. 5% and 50. 5% in the asthmatic subjects and respectively 47.6% and 52.4% in the controls. No significant difference was observed in the allele frequency between the two groups （ χ^2 = 0. 116, P 〉 0. 05 ）. Conclusion It is suggested that the Ile50Val polymorphism of IL- 4R alpha gene exists in this population of Han nationality, but is not associated with bronchial asthma.