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目的:探讨IL-1β基因单核苷酸多态性（SNP）与活动性结核病易感性的关系。方法:采用病例对照研究方法，入选2012年1月至2014年12月深圳市第三人民医院确诊的1 533例活动性结核病患者，其中1 432例肺结核，男920例，女512例，平均年龄（37±14）岁；101例肺外结核，男60例，女41例，平均年龄（35±13）岁。同期选取1 445例在该院体检者为健康对照，其中男882例，女563例，平均年龄（37±20）岁。运用飞行时间质谱技术检测两组的IL-1β基因rs1143627、rs1143623、rs16944及rs2853550基因型，比较两组人群SNP等位基因频率差异。进一步分层比较肺结核与肺外结核病患者rs1143627 T>C（-31）位点等位基因频率差异。随机选取53例活动性结核病患者，其中男32例，女21例，平均年龄（37±15）岁，进行抗结核治疗前后的高分辨率CT检查及评分，分析各SNP等位基因与结核病严重程度的相关性。结果:飞行时间质谱技术能有效检测4个SNP位点基因型。在4个SNP位点中，仅-31位点等位基因频率在活动性结核组和对照组中存在显著差异，活动性结核组rs1143627位点T等位基因频率为53.3%（1 634/3 066），显著高于健康对照组的48.7%（1 407/2 890），差异有统计学意义（n OR=1.20；95% n CI为1.09~1.33；n P=0.001 6）。其他3个SNP等位基因频率在活动性结核组和对照组间差异均无统计学意义，rs1143623 G等位基因频率为59%（1 821/3 066）和60%（1 732/2 890），rs16944 G等位基因频率为51%（1 574/3 066）和52%（1 499/2 890），rs2853550 T等位基因频率为64%（1 964/3 066）和65%（1 875/2 890）。分层分析结果显示，肺外结核病患者-31位点T等位基因的频率（62.9%，127/202）显著高于肺结核病患者（52.6%，1 507/2 864），差异有统计学意义（n OR=1.53；95% n CI为1.13~2.05；n P=0.005）。高分辨率CT评分结果显示抗结核治疗前携带rs1143627 TT、TC、CC基因型患者的高分辨率CT评分分别为26.6、13.9和13.3分，抗结核治疗2年后，携带rs1143627 TT、TC、CC基因型患者的高分辨率CT评分为14.7、6.6和5.4分，表明携带rs1143627 T等位基因的肺结核患者病情更为严重。n 结论:IL-1β基因-31位点T>C的SNP与活动性结核易感性相关，其T等位基因为结核易感基因，且携带T等位基因的个体更易患肺外结核。“,”Objective:To investigate the relationship between single nucleotide polymorphism (SNP) of IL-1β gene and susceptibility to tuberculosis.Methods:A case-control study was conducted in Shenzhen Third People′s Hospital from January 2012 to December 2014. A total of 1 533 patients with active tuberculosis were enrolled, including 1 432 cases of pulmonary tuberculosis[920 males and 512 females, mean age (37±14) years] and 101 cases of extrapulmonary tuberculosis [60 males and 41 females, mean age (35±13) years]. At the same time, 1 445 healthy controls (882 males and 563 females, mean age (37±20) years) were selected. The genotypes of rs1143627, rs1143623, rs16944 and rs2853550 of IL-1β gene were detected by time-of-flight mass spectrometry. The allele frequencies of rs1143627 T>C (-31) were compared between patients with pulmonary tuberculosis and those with extrapulmonary tuberculosis. Fifty-three patients with active tuberculosis [male 32, female 21, mean age (37±15) years] were randomly selected, and the correlation between SNP alleles and tuberculosis severity was analyzed before and after treatment.Results:Time-of-flight mass spectrometry effectively detected the genotypes of 4 SNP loci. Among the 4 SNP loci, only the allele frequency of -31 locus was significantly different between the active tuberculosis group and the control group. The allele frequency of rs1143627 T locus in active tuberculosis group was 53.3%(1 634/3 066), which was significantly higher than that in the healthy control group 48.7%(1 407/2 890; n OR=1.20, 95%n CI=1.09-1.33, n P=0.001 6) .The frequencies of the other 3 SNP alleles were not significantly different between the active tuberculosis group and the control group. The frequencies of the other 3 SNP alleles were 59% (1 821/3 066) and 60% (1 732/2 890) for rs1143623 G allele, 51% (1 574/3 066) and 52% (1 499/2 890) for rs16944 G allele, and 64% (1 964/3 066) and 65% (1 875/2 890) for rs2853550 T allele respectively. Stratified analysis showed that the frequency of the -31 T allele in patients with extrapulmonary tuberculosis (62.9%, 127/202) was significantly higher than that in patients with pulmonary tuberculosis (52.6%,1 507/2 864) (n OR=1.53; 95% n CI=1.13-2.05; n P=0.005).The HRCT scores of patients with rs1143627 TT, TC and CC genotypes were 26.6, 13.9 and 13.3 respectively before anti-tuberculosis treatment, and after 2 years of anti-tuberculosis treatment, the HRCT scores of patients with rs1143627 TT, TC and CC genotypes were 14.7, 6.6 and 5.4 respectively, which indicated that TB patients with rs1143627T allele were associated with more severe pulmonary disease.n Conclusion:The SNP of IL-1β-31T>C was associated with susceptibility to active tuberculosis, and T allele was the susceptible gene and individuals carrying T allele were more likely to develop extrapulmonary tuberculosis.