摘要目的 探讨白细胞介素-22(IL-22)基因启动子区单倍体型与肺结核易感性的关系.方法 收集2009年1月至2010年12月深圳市第三人民医院479例肺结核住院患者的资料,并以358名同期体检人员作为健康对照组.应用MassARRAY时间飞行质谱生物芯片技术检测各组的IL-22基因单核苷酸多态性(SNPs)(rs2227472、rs2227473、rs2227478、rs2227483、rs2227485、rs2227486、rs2227487和rs2227513)基因型,计算各SNPs位点及各单倍体型的等位基因频率及比值比(OR),分析IL-22基因单倍体型与肺结核易感性的关系.结果 SNPs位点rs2227472、rs2227473、rs2227478、rs2227483、rs2227485与结核易感性相关(OR值分别为0.796、0.653、0.769、0.762和0.816,x2值分别为4.594、6.921、5.256、5.089和3.827,P＜0.05或P＜0.01).IL-22基因单倍体型CTTAA(病例组频率0.004,健康对照组0.032)、TATGG(病例组频率0.522,对照组0.460)在两组人群中的频率差异有统计学意义(OR值分别为0.04和1.49,x2值分别为384.623和6.690,P＜0.01).结论 SNPs位点rs2227472、rs2227473、rs2227478、rs2227483和rs2227485与肺结核易感性相关.IL-22基因单倍体型CTTAA、TATGG与肺结核易感性相关,其中CTTAA为保护性单倍体型,TATGG为易感单倍体型.

abstractsObjective To investigte the association between haplotype of the promoter of interleukin-22 (IL-22) gene and the susceptibility to pulmonary tuberculosis.Methods Clinical data of 479 patients with pulmonary tuberculosis was collected from Shenzhen Third People's Hospital during January 2009 and December 2010,and 358 healthy controls were also enrolled in the study.Single nucleotide polymorphisms (SNPs) of IL-22 (rs2227472,rs2227473,rs2227478,rs2227483,rs2227485,rs2227486,rs2227487 and rs2227513) were genotyped using the Sequenom MassARRAY iPLEX Platform.The allele frequency and odds ratio (OR) of genotypes of SNPs and haplotypes of IL-22 were calculated; the association between the haplotypes of IL-22 and the susceptibility to pulmonary tuberculosis was analysis.Results rs2227472,rs2227473,rs2227478,rs2227483 and rs2227485 were associated with the susceptibility to tuberculosis (OR =0.796,0.653,0.769,0.762 and 0.816 ; x2 =4.594,6.921,5.256,5.089 and 3.827 ; P ＜0.05 or P ＜ 0.01).The frequencies of haplotypes (CTFAA and TATGG) in case group were significantly different from those in control group (CTFAA:0.004 vs.O.032,OR =0.04,x2 =384.623,P＜0.01; TATGG:0.522 vs.0.460,OR=1.49,x2 =6.690,P=0.01).Conclusions Five SNPs of IL-22 (rs2227472,rs2227473,rs2227478,rs2227483,rs2227485) and 2 haplotypes (CTTAA and TATGG) are associated with the susceptibility to pulmonary tuberculosis.Haplotype CTTAA is a protective factor for susceptibility to pulmonary tuberculosis,whereas haplotype TATGG is a risk factor.