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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。
Objective To investigate the association between polymorphism of rs1042713 (SNP) site of Arg16Gly at the SNP locus of β2 adrenoceptor gene (ADRB2) and the incidence of bronchial asthma in Han Chinese of South China. Methods A case-control study was carried out to genotype rs1042713 using matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF-MS). Statistical analysis was carried out using Chi-square test and Logistic regression. Results The frequency of genotypes AA, AG and GG of rs1042713 polymorphism was 18.7%, 76.0% and 5.3% in patients with asthma, which was significantly different from that of control group (33.8%, 44.6% and 21.6%) (χ2 = 36.28, P <0.001). After adjusting for age and gender, we found an increased risk of asthma with AG genotypes relative to AA + GG genotypes (OR = 4.37, 95% CI: 2.64-7.23). Conclusions The pathogenesis of asthma in South China Han population may be related to SNP rs1042713 SNP. Heterozygous AG genotype is the risk factor for its pathogenesis.