关键词: 结核, 胸膜/遗传学, 转化生长因子&, beta, 1, 多态性, 单核苷酸, 聚合酶链反应, 深圳市

Abstract: Objective  To explore the single nucleotide polymorphisms（SNP）of rs4803455 from TGFβ1 gene in the Han population in Shenzhen, and study the correlation between its gene polymorphisms and different clinical manifestations of tuberculosis (TB).   Methods  The allele genotypes of TGFβ1（rs4803455）in 373 TB patients (TB group) and 350 healthy controls (control group) were detected by using the real-time fluorescent PCR method based on TaqMan probe technology and performed stratified analyses. Then we observed the difference of allele frequency between in pulmonary TB patients (pulmonary TB group) and in the patients with tuberculous pleurisy (tuberculous pleurisy group), all of which were confirmed by bacteriological and pathological examination.    Results The frequencies of allele C/A in the genetic locus rs4803455 were as follow: allele A and allele C in TB group were 31.8%（237/746）and 68.2%（509/746）respectively, and in control group were 40.6%（284/700）and 59.4%（416/700）respectively. There were statistical differences between two groups (P=0.000,  χ²=12.139，OR=1.466, 95% CI=1.182-1.819). There were not significant differences between the population aged ≤25 years of two groups (P=0.094,  χ²=2.807, OR=1.381, 95% CI=0.946-2.015): allele A and allele C in TB group with 121 cases were 33.5%（81/242）and 66.5%（161/242）respectively, and in control group with 111 people were 41.0%（91/222）and 59.0%（131/222）respectively. There were significant differences between the population aged >25 years of two groups (P=0.002,  χ²=9.511,  OR=1.511, 95% CI=1.162-1.965): allele A and allele C in TB group with 252 cases were 31.0%（156/504）and 69.0%（348/504）, and in control group with 239 people were 40.4%（193/478） and 59.6%（285/478）allele A and allele C in pulmonary TB group with 111 cases were 32.4%（72/222） and 67.6%（150/222）respectively, in tuberculous pleurisy group with 57 cases were 21.1%（24/114） and 78.9%（90/114）respectively, and in control group with 350 people were 40.6%（284/700）and 59.4%（416/700）respectively,there were significant differences between pulmonary TB group or tuberculous pleurisy group and control group (P<0.05; OR value were 1.422, 2.560; 95%CI were 1.034-1.957, 1.592-4.116).The frequency of allele C in tuberculous pleurisy group  (78.9%, 90/114) was higher than that in pulmonary TB group（67.6%, 150/222）.   Conclusion  The gene polymorphisms of TGFβ1 (rs4803455) may be associated with TB, especially tuberculous pleurisy. Allele C may be a risk factor for prediction of TB in particular tuberculous pleurisy, and its prediction in the age of >25 years had greater possibility.

Key words: Tuberculosis, pleural/genetics, Transforming growth factor beta1, Polymorphism, single nucleotide, Polymerase chain reaction, Shenzhen city