机构：[1]Capital Med Univ, Key Lab Major Dis Children, Beijing 100045, Peoples R China;[2]Capital Med Univ, Natl Key Discipline Pediat, Minist Educ, Beijing Pediat Res Inst,Beijing Childrens Hosp, Beijing 100045, Peoples R China;科研平台儿科研究所首都医科大学附属北京儿童医院[3]Peking Union Med Coll, Grad Sch, Beijing 100730, Peoples R China;[4]Natl Res Inst Family Planning, Beijing 100081, Peoples R China;[5]Capital Med Univ, Key Lab Major Dis Children, 56 Nan Li Shi Rd, Beijing 100045, Peoples R China
Host genetic factors play a major role in determining differential susceptibility to human tuberculosis (TB), a re-emerging infectious disease throughout the world. Genetic variations in the IFNG gene coding for interferon gamma (IFN-gamma), have been identified in TB patients. To investigate the association of the IFNG polymorphisms with TB susceptibility in Chinese pediatric population. A case-control study of 189 TB patients and 164 controls was performed using single-nucleotide polymorphism (SNP) analysis. Genomic DNA was extracted from leukocytes in peripheral blood. Three SNPs of IFNG, including -1616C/T (rs2069705), +874A/T (rs2430561), and +3234C/T (rs2069718), were selected for genotyping and analysis. The +874A and +3234C alleles were more frequent among TB patients (P = 0.108 and P = 0.088), especially in females (both P = 0.029), although this difference was not significant since Bonferroni corrected significance threshold was 0.025 (two of three SNPs were found to be in linkage disequilibrium). More pronounced differences for the +874 and +3234 polymorphisms were found under the genotype comparison between TB cases and controls in the total population [P = 0.026 (borderline non-significance) and P = 0.020, respectively], and in the female subgroup (P = 0.020 and P = 0.020). The dominant model of inheritance was shown to be significant for +874A and +3234C alleles (both P = 0.019) in the female subgroup. The +874A and +3234C alleles were more frequently found in extrapulmonary TB patients than in controls (P = 0.039). Haplotype analysis carried out on these three SNPs showed the TTT haplotype to be more frequent in controls than in TB cases, and this difference showed a strong significance (P = 0.005). The +874A and +3234C alleles may be related to TB susceptibility in the female subgroup in the Chinese pediatric population of North China. The higher rate of +874A (known to correlate with lower IFN-gamma expression) in the extrapulmonary TB subgroup suggests a sufficient IFN-gamma expression to be not only an important factor for the onset of TB disease but also for limiting its dissemination to lungs.
基金：
National Natural Science Foundation of ChinaNational Natural Science Foundation of China [81071315]; Beijing Natural Science FoundationBeijing Natural Science Foundation [7121007]
第一作者机构：[1]Capital Med Univ, Key Lab Major Dis Children, Beijing 100045, Peoples R China;[2]Capital Med Univ, Natl Key Discipline Pediat, Minist Educ, Beijing Pediat Res Inst,Beijing Childrens Hosp, Beijing 100045, Peoples R China;
通讯作者：
通讯机构：[1]Capital Med Univ, Key Lab Major Dis Children, Beijing 100045, Peoples R China;[2]Capital Med Univ, Natl Key Discipline Pediat, Minist Educ, Beijing Pediat Res Inst,Beijing Childrens Hosp, Beijing 100045, Peoples R China;[5]Capital Med Univ, Key Lab Major Dis Children, 56 Nan Li Shi Rd, Beijing 100045, Peoples R China
推荐引用方式(GB/T 7714)：
Shen Chen,Jiao Wei-Wei,Feng Wei-Xing,et al.IFNG polymorphisms are associated with tuberculosis in Han Chinese pediatric female population[J].MOLECULAR BIOLOGY REPORTS.2013,40(9):5477-5482.doi:10.1007/s11033-013-2647-7.
APA：
Shen, Chen,Jiao, Wei-Wei,Feng, Wei-Xing,Wu, Xi-Rong,Xiao, Jing...&Shen, A-Dong.(2013).IFNG polymorphisms are associated with tuberculosis in Han Chinese pediatric female population.MOLECULAR BIOLOGY REPORTS,40,(9)
MLA：
Shen, Chen,et al."IFNG polymorphisms are associated with tuberculosis in Han Chinese pediatric female population".MOLECULAR BIOLOGY REPORTS 40..9(2013):5477-5482
