摘要目的：探讨中国汉族人群蛋白酪氨酸磷酸酶非受体型（ PTPN22）基因多态性（PTPN22 R620W 和 PTPN22 R263Q）与肺结核发病的关系，并分析影响肺结核发病的环境因素。方法采用病例对照研究设计，用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测235例病例和251例对照的 PTPN22基因 R620W 和 R263Q 位点的基因型分布；对肺结核相关环境因素进行问卷调查，进行单因素和多因素 Logistic 回归分析，比较两组基因型和等位基因频率。结果 R620W （C1858T）：CC、CT、TT 基因型在病例组和对照组的分布频率分别为233（99.15％）、2（0.85％）、0（0％）和240（95.62％）、11（4.38％）、0（0％）；C 和 T 等位基因在病例组和对照组的频率之比为0.19（0.43％/2.19％），OR＝0.19，95％ CI 为0.07~0.35；R263Q（G788A）：GG、GA、AA 基因型在病例组和对照组的分布频率分别为218（92.77％）、17（7.31％）、0（0％）和248（98.71％）、3（1.29％）、0（0％）；G 和 A 等位基因在病例组和对照组的频率之比为6.03（3.62％/0.60％），OR ＝6.03，95％ CI为2.12~18.38。结论 PTPN22基因 R263Q GG 基因型可能是中国汉族人的肺结核易感基因型。

abstractsObjective To analyze the correlation between the polymorphism of PTPN22 gene (R620W and R263Q sites)and pulmonary tuberculosis(TB)in Chinese Han population and to investigate the environmental factors associated with pulmonary TB. Methods A case-control study was conducted on 235 patients with pulmonary TB and 251 healthy subjects. The single nucleotide polymorphisms(SNP)of PTPN22 gene at R620W and R263Q sites were detected by the assay of polymerase chain reaction and re-striction fragment length polymorphism(PCR-RFLP). A questionnaire was designed to gather information about tuberculosis-associated environmental factors. Univariate and multivariate logistic analysis were con-ducted. Results Genotype frequencies of PTPN22 R620W(C1858T)SNP were 233(99. 15% ,CC),2 (0. 85% ,CT),0(0% ,TT)in patients with pulmonary TB and 240(95. 62% ,CC),11(4. 38% ,CT), 0(0% ,TT)in healthy subjects. There was a difference with the distribution of PTPN22 C1858T allele be-tween patients with pulmonary TB and healthy subjects[0. 43% vs 2. 19% ,P = 0. 01,odds ratio(OR)=0. 19,95% confidence interval(CI)= 0. 07-0. 35]. Genotype frequencies of PTPN22 R263Q(G788A) were 218(92. 77% ,GG),17(7. 31% ,GA),0(0% ,AA)in patients with pulmonary TB and 248 (98. 71% ,GG),3(1. 29% ,GA),0(0% ,AA)in healthy subjects. The frequencies of G788A allele in patients with pulmonary TB were higher than those in healthy subjects(3. 62% vs 0. 60% ,P﹤0. 01,OR=6. 03,95% CI=2. 12-18. 38). Conclusion The results of this study suggested that the R263Q GG geno-type of PTPN22 gene was associated with the susceptibility to TB in Chinese Han population.