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目的 探索白细胞介素23受体(IL-23R)基因多态性在汉族人群中的分布,以及与肺结核患病的关联.方法 选取2014年3月至2015年12月在首都医科大学附属北京胸科医院所收治的肺结核住院患者作为病例组,共243例;选取北京市昌平区结核病防治所于2014年5-10月进行结核病体检的健康者作为对照组,共226名.利用NCBI数据库筛选出9个IL-23R基因单核苷酸多态性(single nucleotide polymorphism,SNP)位点(rs3762318、rs11209026、rs10889657、rs10889677、rs6682925、rs1004819、rs11465804、rs2201841、rs7514847)作为待测位点,利用高温连接酶检测技术对待测位点进行检测并做基因分型,比较病例组和对照组等位基因及基因型频率,分析找出连锁不平衡和易感单倍型,从而发现该基因多态性与肺结核易感性之间的关系.结果经过比较分析,IL-23R多态性位点rs6682925最小等位基因C在病例组中频率为44.0％(213/484),高于对照组中的37.4％(169/452),差异有统计学意义[x2=4.24,P=0.040;OR(95％CI)值:1.32(1.01～1.71)];基因型TT在病例组频率为30.1％(73/242),低于对照组的38.9％(88/226),差异有统计学意义[x2=3.99,P=0.040;OR(95％CI)值:0.68(0.46～0.99)].rs3762318等位基因C频率在病例组中为16.0％(78/486),高于对照组的10.2％(46/450),差异有统计学意义[x2=7.04,P＜0.01;OR(95％CI)值:1.69(1.14～2.49)];基因型CC在病例组中频率为3.3％(8/243),高于对照组的0.4％(1/225),差异有统计学意义[x2=5.02,P=0.040;OR(95％CI)值:7.63(0.95～61.46)];基因型TT频率在病例组中为71.5％(173/243),低于对照组的80.0％(180/225),差异有统计学意义[x2 =4.89,P=0.030;OR(95％CI)值:0.62(0.40～0.95)].连锁分析和单倍型分析中发现由9个目标SNP位点构建的单倍型CTCACTCTG在病例组中期望频率为5.1％,在对照组中为2.2％,差异有统计学意义[x2 =5.65,P=0.017;OR(95％CI)值:2.44(1.14～5.19)].结论 IL-23R的rs6682925和rs3762318多态性位点突变在汉族人群中有较高的频率,且和肺结核患病相关;携带由9个目标SNP点位构建的单倍型CTCACTCTG是肺结核的危险因素.“,”Objective To investigate distribution of interleukin-23 receptor (IL-23R) polyrnorphisms in Chinese Han and the relationship between the distribution and pulmonary tuberculosis (PTB).Methods A casecontrol study was performed,243 PTB cases were selected as case group hospitalized Beijing Chest Hospital,Capital Medical University during March 2014 to December 2015 and 226 healthy controls were recruited by the tuberculosis physical examination in Beijing Changping Center for tuberculosis control and prevention during May 2014 to October 2014.Nine polymorphic sites (rs3762318,rs11209026,rs10889657,rs10889677,rs6682925,rs1004819,rs11465804,rs2201841,rs7514847) were screened out using NCBI database,single nucleotide polymorphisms (SNPs) were detected by ligase detection reaction (LDR) for genotyping and frequency comparision,linkage analysis and haplotype analysis were performed to find out linkage disequilibrium and haplotype.Through above-mentioned methods,the association between IL-23R SNPs and PTB were estimated.Results There was a significant difference in the distribution of IL-23R gene polymorphism at polymorphic site rs6682925 between PTB cases and healthy controls,allele C frequency in cases (44.0％ (213/484)) was significantly higher than in controls (37.4％ (169/452)) (x2=4.24,P=0.040;OR=1.32,95％CI:1.01-1.71);genotype TT frequency in cases (30.1％ (73/242)) was also significantly higher than in controls (38.9％ (88/226)) (x2 =3.99,P=0.040;OR=0.68,95％CI:0.46-0.99).As to polymorphic site rs3762318,allele T frequency in cases (16.0％ (78/486))was significantly higher than in controls (10.2％ (46/450)) (x2 =7.04,P＜0.01;OR=1.69,95％CI:1.14 2.49);genotype CC frequency in cases (3.3％ (8/243)) was significantly higher than in controls (0.4％ (1/225))(x2 =5.02,P=0.040;OR=7.63,95％CI:0.95-61.46);genotype TT frequency in cases (71.5％ (173/243)was significantly higher than in controls (80.0％ (180/225)) (x2=4.89,P=0.030;OR=0.62,95％CI:0.40-0.95).Haplotype CTCACTCTG built by nine target SNPs sites in cases was found significantly different from controls by haplotype analysis (5.1％ vs.2.2％,x2=5.65,P=0.017;OR=2.44,95％CI:1.14-5.19).Conclusion Polymorphic sites rs6682925 and rs3762318 are widely existed among Chinese Han population and these two SNPs are susceptible to PTB.Haplotype CTCACTCTG built by the nine SNPs sites is a risk factor for susceptibility to PTB in Chinese Han population.