IgE高亲和力受体β链基因的多态性与中国人哮喘易感性的研究

目的 探讨ＩｇＥ高亲和力体β链基因（ＦｃεＲＩ－β）的多态性与中国人哮喘易感性的连锁关系。方法 用ＰＣＲ／ＲＦＬＰ检测ＦｃεＲＩ－β基因编码区Ｅ２３７Ｇ变异位点及非编码区的２个多态性位点，对３２个哮喘家系共１９２份样品以及１２２例哮喘患儿进行分析。结果 （１）中国人在这３个位点的等位基因频率与白种人及日本人明显不同。（２）哮喘家系样本显示，第２内含子区多态位点的Ａ等位片段与哮喘有显著相关性（Ｐ〈０

Study on the FcepsilonRI-beta polymorphism and susceptibility of asthma in a Chinese population]

OBJECTIVE: To investigate the linkage between the polymorphisms of FcepsilonRI-beta gene and susceptibility of asthma in a Chinese population. METHODS: Thirty-two families with 192 samples and 122 cases of childhood asthma were studied. A coding variant of E237G was detected by PCR/XmnI restriction endonuclease digestion. Two RsaI polymorphic sites within non-coding region were tested by PCR/RsaI restriction endonuclease digestion. RESULTS: The allele frequencies for all three polymorphisms of FcepsilonRI-beta gene in the Chinese population were markedly different from those published results of Caucasians and Japanese. Comparing asthma family samples with normal control, we found that genotypes containing A allele within intron 2 polymorphic site were associated with asthma (P < 0.05, OR = 2.039). The level of total serum IgE showed significant difference among three genotypes of intron 2 polymorphic site (P < 0.05). The association between A allele and elevated total serum IgE was also significant (P < 0.05, RR = 1.361). We could not find any significant results from the other two polymorphisms, even in the coding variant E237G. CONCLUSION: We were unable to confirm that the FcepsilonRI-beta gene was crucial to the susceptibility of asthma and atopy and did not contribute substantially to variation in IgE levels from both sample groups.