摘要
目的:研究云南省汉族人群LMP2、LMP7基因单核苷酸多态性(SNP)与结核病(TB)的相关性。方法:选取449例云南省汉族TB患者(其中肺TB 324例、肺外TB 125例)作为病例组,367例健康人群作为对照组;采用SNaPshot分型法对LMP 2基因的3个SNP位点rs1351383(T>G)、rs17587(C>T)、rs2127675(A>G)和LMP 7基因的rs2071543(G>T)位点进行基因分型,比较这4个SNP位点等位基因和基因型在病例组和对照组中的频率,结合遗传模式分析和单倍型分析,研究LMP 2和LMP 7基因SNP多态性与TB的相关性。结果:经Bonferroni校正后,4个SNP位点的等位基因及基因型频率在病例组和对照组中差异均无统计学意义(P>0.0125);但在分层研究中,rs1351383位点的C等位基因在肺外TB患者中的频率显著高于对照组(P=0.010,OR=1.377,95%CI为1.030~1.841),加性遗传模式分析显示该位点基因型在病例组和对照组间频率的差异具有统计学意义(P=0.008,OR=1.520,95%CI为1.120~2.080);rs1351383-rs17587-rs2127675-rs2071543单倍型C-G-G-G在肺外TB患者中的频率显著高于对照组(P=0.003,OR=1.982,95%CI为1.246~3.154)。结论:云南省汉族人群中LMP基因的多态位点rs1351383的C等位基因及其rs1351383-rs17587-rs2127675-rs2071543单倍型C-G-G-G可能增加肺外TB的患病风险。
Objective:To investigate the association between LMP2 and LMP7 gene single nucleotide polymorphisms(SNPs)and Tuberculosis(TB)of Han population in Yunnan.Methods:A total of 449 patients with TB(including 324 cases with pulmonary TB and 125 cases with extrapulmonary TB)and 367 healthy individuals of the Han people in Yunnan province were recruited in this study.SNaPshot genotyping was used to genotype the three SNPs of the LMP2 genes:rs1351383(T>G),rs17587(C>T),rs2127675(A>G),and rs2071543(G>T)of the LMP7 genes.The allelic and genotypic frequencies of the four SNPs in TB cases and the control group were compared using different inheritance models.Furthermore,the haplotype were constructed and analyzed.Results:After Bonferroni correction there was no difference between TB cases and the control group(P>0.0125)in the allelic and genotypic frequencies of the four SNPs.However,the stratified study showed that the frequency of the C allele of rs1351383 in the group with extrapulmonary TB was significantly higher than that of the control group(P=0.010,OR=1.377,95%CI:1.030~1.841),while the genotype difference was showed between the EPTB and TB cases in the analysis of additive genetic model(P=0.008,OR=1.520,95%CI:1.120~2.080).The frequency of haplotype rs1351383-rs17587-rs2127675-rs2071543:C-G-G-G was significantly higher in the group with extrapulmonary TB(P=0.015,OR=1.982,95%CI:1.246~3.154,after B.correction)than that in the control group.Conclusion:rs1351383-C in LMP2 gene,as well as haplotype rs1351383-rs17587-rs2127675-rs2071543:C-G-G-G may increase the susceptibility of extrapulmonary TB in Yunnan Han population.
作者
刘楠楠
刘舒媛
王辉
张新文
李传印
史荔
张淑琼
LIU Nannan;LIU Shuyuan;WANG Hui;ZHANG Xinwen;LI Chuanyin;SHI Li;ZHANG Shuqiong(Institute of Medical Biology,Chinese Academy of Medical Sciences&Peking Union Medical College,Yunnan Key Laboratory of Vaccine Research and Development on Severe Infectious Diseases,Kunming 650118,Yunnan,China;The Third People's Hospital of Kunming,Kunming 650118,Yunnan,China)
出处
《贵州医科大学学报》
CAS
2020年第5期512-519,共8页
Journal of Guizhou Medical University
基金
国家自然科学基金项目(31401063)
中国医学科学院医学与健康科技创新工程重大协同创新项目(2016-I2M-2-001)。
关键词
多态性
单核苷酸
低相对分子量蛋白酶体基因
结核病
云南汉族
polymorphism
single nucleotide(SNP)
low molecular weight proteasome(LMP)gene
tuberculosis(TB)
han population of yunnan
作者简介
通信作者:张淑琼,E-mail:1357626082@qq.com。
