Correlation between polymorphism of PTPN22 gene and pulmonary tuberculosis：a case-control study

Abstract

Objective 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 restriction fragment length polymorphism（PCR-RFLP）. A questionnaire was designed to gather information about tuberculosis-associated environmental factors. Univariate and multivariate logistic analysis were conducted. 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 between 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 genotype of PTPN22 gene was associated with the susceptibility to TB in Chinese Han population. Key words: Tuberculosis; PTPN22; Case-control study; Polymorphism