白细胞介素1β基因rs1143627位点单核苷酸多态性与活动性结核病易感性的关系  

The association between single nucleotide polymorphism of interleukin-1βgene rs1143627 site and susceptibility to active tuberculosis

作　　者：李国保[1] 欧敏 王召钦[1] 李桂霞[1] 贺星[1] 刘智[1] 邓永聪 罗蓝[1] 张国良[1] Li Guobao;Ou Min;Wang Zhaoqin;Li Guixia;He Xing;Liu Zhi;Deng Yongcong;Luo Lan;Zhang Guoliang(National Clinical Research Center for Infectious Disease,the Third People′s Hospital of Shenzhen,Shenzhen 518112,China)

机构地区：[1]深圳市第三人民医院国家感染性疾病临床医学研究中心,518112

出　　处：《中华结核和呼吸杂志》2020年第5期444-449,共6页Chinese Journal of Tuberculosis and Respiratory Diseases

摘　　要：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1533例活动性结核病患者,其中1432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1445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%(1634/3066),显著高于健康对照组的48.7%(1407/2890),差异有统计学意义(OR=1.20;95%CI为1.09~1.33;P=0.0016)。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%(1821/3066)和60%(1732/2890),rs16944 G等位基因频率为51%(1574/3066)和52%(1499/2890),rs2853550 T等位基因频率为64%(1964/3066)和65%(1875/2890)。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%,1507/2864),差异有统计学意义(OR=1.53;95%CI为1.13~2.05;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Objective To investigate the relationship between single nucleotide polymorphism(SNP)of IL-1βgene 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 1533 patients with active tuberculosis were enrolled,including 1432 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,1445 healthy controls(882 males and 563 females,mean age(37±20)years)were selected.The genotypes of rs1143627,rs1143623,rs16944 and rs2853550 of IL-1βgene 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%(1634/3066),which was significantly higher than that in the healthy control group 48.7%(1407/2890;OR=1.20,95%CI=1.09-1.33,P=0.0016).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%(1821/3066)and 60%(1732/2890)for rs1143623 G allele,51%(1574/3066)and 52%(1499/2890)for rs16944 G allele,and 64%(1964/3066)and 65%(1875/2890)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

关 键 词：白细胞介素1Β 多态性 单核苷酸 结核 疾病易感性 

分 类 号：R5[医药卫生—内科学]