文章摘要
陈慧芬,张德平,邱玉英,肖永龙.ADRB2基因多态性/单倍型与中国汉族人群哮喘的相关性[J].南京医科大学学报,2014,(3):323~329
ADRB2基因多态性/单倍型与中国汉族人群哮喘的相关性
Association between ADRB2 gene polymorphisms/haplotypes and asthma in a Chinese Han population
投稿时间:2013-10-15  
DOI:10.7655/NYDXBNS20140309
中文关键词: 哮喘  β2肾上腺素能受体基因  多态性  单倍型
英文关键词: asthma  ADRB2 gene  polymorphism  haplotype
基金项目:南京市卫生局卫生青年人才培养工程(第一层次)资助;江苏省医学重点学科(实验室)开放课题(KF200918);江苏省医学重点学科开放课题(XK200713)
作者单位
陈慧芬 南京医科大学鼓楼临床医学院呼吸科,江苏 南京 210008 
张德平 南京医科大学鼓楼临床医学院呼吸科,江苏 南京 210008 
邱玉英 南京医科大学鼓楼临床医学院呼吸科,江苏 南京 210008
南京大学医学院附属鼓楼医院呼吸科,江苏 南京 210008 
肖永龙 南京大学医学院附属鼓楼医院呼吸科,江苏 南京 210008 
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中文摘要:
      目的:研究中国汉族人群β2肾上腺素能受体(beta-2 adrenergic receptor,ADRB2)基因单核苷酸多态性(single nucleotide polymorphism,SNP)/单倍型与哮喘的相关性?方法:采用Taqman探针法对379例哮喘患者和435例健康对照者ADRB2基因6个位点(-2 387?-47?46?79?491和523位)进行基因分型,并通过SHEsis在线平台确定其单倍型?结果:-47位等位基因分布频率在哮喘组与对照组间差异有统计学意义(OR:0.687,95%CI:0.497~0.951,P < 0.05),CT?CC + CT基因型分别与TT基因型相比,在两组间差异有统计学意义(OR分别为0.685?0.672,95%CI分别为0.480~0.976?0.474~0.952,P均< 0.05)?79位等位基因在哮喘组与对照组之间的频率分布差异有统计学意义(OR:0.687,95%CI:0.497~0.951,P < 0.05)?CG?GG + CG基因型分别与CC基因型相比较,在两组间差异均有统计学意义(OR分别为0.685 和0.672,95%CI分别为0.480~0.976?0.474~0.952,P均< 0.05)?-2 387位?46位和523位各基因型频率和等位基因频率在哮喘组与对照组之间差异无统计学意义(P均>0.05),哮喘组与对照组491位点均为野生纯合基因型,未发现突变型等位基因?-47位与79位间存在强烈的连锁不平衡(D' = 0.987,r2 = 0.974),46位与523位存在较强的连锁不平衡(D' = 0.996,r2 = 0.593)?哮喘组单倍型Ⅲ(CCGGC)分布频率在两组间差异有统计学意义(OR = 0.696,95%CI:0.502~0.966,P < 0.05)?结论:ADRB2基因-47位?79位多态性和单倍型Ⅲ(CCGGC)可能与中国汉族人群哮喘的易感性相关?-2 387?46?491和523位多态性/单倍型与哮喘易感性无关?
英文摘要:
      Objective:The aim of this study was to evaluate the potential relationship between single nucleotide polymorphisms/haplotypes of beta-2 adrenergic receptor (ADRB2) gene and asthma in a Han Chinese population. Methods:Six loci (-2 387,-47,46,79,491 and 523 loci) of ADRB2 gene were genotyped by the TaqMan probe assay in 379 asthmatics and 435 healthy controls,and the haplotypes were also analyzed by the SHEsis online platform. Results:There was significant difference in allele frequency distribution of -47 locus between asthmatic patients and control subjects (OR:0.687,95%CI:0.497~0.951,P < 0.05). Compared with TT genotype,the CT and CC + CT genotype both had significant difference (OR were 0.685,0.672,respectively;95%CI were 0.480~0.976,0.474~0.952,respectively;both P < 0.05). There was also significant difference in allele frequency distribution of 79 loci between asthmatic patients and control subjects (OR:0.687,95%CI:0.497~0.951,P < 0.05). Compared with the CC genotype,the CG and CC + CG genotype both had significant difference (OR were 0.672,0.687,respectively;95%CI:0.480~0.976,0.474~0.952,respectively;both P < 0.05). There were no significant differences in genotype or allele frequencies of loci of -2 387,46 and 523 between the two groups (all P > 0.05). The mutant allele at 491 locus was not observed and only the homozygous wild-type was found in both asthmatic patients and control subjects. A strong linkage disequilibrium was found between -47 and 79 loci (D' = 0.987,r2 = 0.974) and between 46 and 523 loci (D' = 0.996,r2 = 0.593). There was significant difference in the haplotype Ⅲ (CCGGC) distribution frequency between asthmatic patients and control subjects (OR = 0.696,95%CI:0.502~0.966,P < 0.05). Conclusion:The polymorphisms of -47,79 loci and the haplotypeⅢ(CCGGC) of ADRB2 gene may contribute to susceptibility of asthma in Chinese Han population. There were no association between the polymorphisms/haplotypes of -2387,46,491,523 loci and asthma susceptibility.
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