β2肾上腺素受体基因Arg16Gly位点多态性与华南人群哮喘相关性研究

目的探讨β2肾上腺素受体基因(ADRB2)SNP位点rs1042713即突变位点Arg16Gly的多态性与华南汉族人群支气管哮喘发病的相关性。方法采用病例对照研究,利用基质辅助激光解吸电离飞行时间质谱技术(MALDI-TOF-MS)对rs1042713进行基因分型,对实验结果运用χ2检验和二分类Logistic回归进行统计学相关性分析。结果 rs1042713多态位点AA、AG、GG 3种基因型在哮喘患者的频率为18.7%、76.0%和5.3%,与对照组(33.8%,44.6%和21.6%)相比具有显著差异(χ2=36.28,P<0.001);对年龄和性别进行校正后,发现相对于AA+GG基因型,携带AG基因型的哮喘发病风险增加(OR=4.37,95%CI:2.64~7.23)。结论华南汉族人群哮喘的发病机制可能与SNP rs1042713位点的单核苷酸多态性有关,杂合子基因型AG为其发病的危险因素。

Association of single nucleotide polymorphisms of ADRB2 Arg16Gly with asthma in southern Chinese population

The missense mutation of single nucleotide polymorphisms(SNP) rs1042713,Arg16Gly,in ADRB2 is presumed to play a role in asthma.Here,we aimed to examine the association of loci rs1042713 of ADRB2 gene with asthma in a southern Chinese population.A case-control study consisting of 171 asthma cases and 148 controls was preformed using the Sequenom MassARRAY-IPLEX platform and MALDI-TOF-MS technique.Association analyses based on the χ2 test and binary logistic regression were performed to determine the odds ratio(OR) and 95% confidence interval(95% CI).The frequencies of genotypes AA,AG and GG at SNP rs1042713 were 18.7%,76.0% and 5.3% in asthmatic group which were significantly different from that in controls(33.8%,44.6% and 21.6%;χ2=36.28,P < 0.001).Compared with genotype AA+GG,the heterozygote AG elevated the onset risk of asthma(adjusted OR=4.37;95% CI=2.64-7.23;P < 0.001).All the results suggested that SNP rs1042713 could be a susceptible gene for adult asthma of the southern Chinese population,and the AG genotype might be the risk factor among asthmatic patients.