β_2-肾上腺素能受体基因多态性与新疆维吾尔族患者支气管哮喘间的关系研究

目的 :探讨 β2 肾上腺素能受体 (β2 adrenergicreceptor,β2 AR) 16 ,2 7位点基因多态性与新疆维吾尔族支气管哮喘患者及其临床表型间的关系。方法 :采用序列特异引物聚合酶链反应 (sequencespecificprimers polymerasechainreaction ,SSP PCR)技术检测 12 3例维吾尔族哮喘组患者β2 AR16和 2 7位点基因多态性 ,并与 89例正常组进行对照 ,统计分析 β2 AR16和 2 7位点基因型与哮喘病情严重度的关系。应用UniCAP变应原检测系统 (SWEDENPHARMACIAUniCAPSystems)测定血清嗜酸性粒细胞阳离子蛋白(ECP)、血清总免疫球蛋白E(T IgE)和特异性IgE抗体 (Phadiatop)水平肺功能测定 ,记录 1s用力呼气容量占预计值百分比 (FEU1 % )及最大峰流速 (PEF)。结果 :新疆维吾尔族人群 β2 AR基因 16位点多态性分布以杂合子所占比率较高 ;2 7位点多态性分布以纯合子所占比率较高 ;16 ,2 7位点多态性分布频率与北方汉族人群不同。亦与英、美高加索人群不同。Gly16纯合子基因型的频率在哮喘组明显高于正常对照组的频率 (13 0 1%vs 10 11% ,P <0 0 5 ) ,而且在夜间哮喘组的频率较非夜间哮喘组明显增高 (30 6 %vs 14 9% ,P <0 0 1) ,β2 AR16位点基因多态性在重度哮喘组Gly Gly基因型分布频率明显高于轻度哮喘和中?

Association between the genetic polymorphisms of β2-adrenergic receptor gene and the asthma susceptibility and clinical phenotypes in Uygur population

Objective:To investigate whether β 2-adrenergic receptor (β 2-AR) gene polymorphism at position 16 and 27 is in association with asthma susceptibility or asthmatic phenotype (including nocturnal asthma,serum IgE level,the status of asthmatics).Method:By using sequence specific primers-polymerase chain reaction(SSP-PCR),the polymorphism of β 2-AR gene at position 16,27 in 123 Uygur asthmatics and 89 normal healthy controls with the same ethnic nearby Xinjiang Hetian region were genotyped.All patients had their serum total IgE(TIgE) measured by UniCAP,pulmonary ventilatory function assessed by FEV-1% and PEE.Result:There was higher prevalence of Gly 16 homozygous of β 2-AR in asthmatics than that in normal healthy controls (13^01% vs 10^11%,P<0^05);also there was higher frequency of Gly16 homozygous of β 2-AR in nocturnal asthmatics than that in nonnocturnal asthmatics (30^6% vs 14^9%,P<0^01).The significant difference in the levels of FEV-1% was observed among the genotypes in both asthmatic and control group.No significant difference in the levels of total serum IgE was observed among the genotypes in both asthmatic and control group.There was no significant difference in genotypes between the high IgE level group and IgE normal group (P>0^05).Conclusion:β 2-AR gene polymorphism at position 16 and 27 may be associated with the clinical presentation of asthma in Xinjing Uygur population,China.