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儿童变应性鼻炎严重度与TGFB1基因-509 C/T多态性的关系
引用本文:Zhu XJ,Zhu LP,Lu MP,Wang ML,Qi QH,Yin M,Zhang ZD,Cheng L. 儿童变应性鼻炎严重度与TGFB1基因-509 C/T多态性的关系[J]. 中华耳鼻咽喉头颈外科杂志, 2010, 45(6): 459-464. DOI: 10.3760/cma.j.issn.1673-0860.2010.06.005
作者姓名:Zhu XJ  Zhu LP  Lu MP  Wang ML  Qi QH  Yin M  Zhang ZD  Cheng L
作者单位:1. 南京医科大学第一附属医院耳鼻咽喉科,210029
2. 南京医科大学公共卫生学院分子遗传毒理实验室
3. 南京医科大学第一附属医院临床实验研究中心
4. 南京医科大学第一附属医院耳鼻咽喉科南京医科大学国际变态反应研究中心,210029
5. 210029,南京医科大学第一附属医院耳鼻咽喉科;南京医科大学国际变态反应研究中心
基金项目:教育部留学回国人员科研启动基金,江苏省"科教兴卫工程"医学重点学科基金,重点人才基金 
摘    要:目的 探讨儿童变应性鼻炎(allergic rhinitis,AR)严重度与转化生长因子β1(transforming growth factor β1,TGF-β1)基因(TGFB1)启动子区-509C/T多态性的相关性.方法 儿童持续性AR患者96例,年龄3~17岁,平均((x)±s)年龄(9.4±3.8)岁;其中轻度51例(53.1%),中-重度45例(46.9%).应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测患儿外周血中TGFB1基因-509C/T多态性的基因型,双抗体夹心ELISA法测定血清TGF-β1水平,ImmunoCAP100E变应原体外检测系统测定血清总IgE、特异性IgE和嗜酸粒细胞阳离子蛋白(eosinophil cationic protein,ECP)水平.使用SPSS11.0统计学软件对实验结果进行分析.结果 TGFB1基因-509C/T多态性在轻度AR组和中-重度AR组中的基闪型分布差异有统计学意义(x2=8.361,P=0.015),TT基因型与CC/CT基因型相比,在中-重度AR组中的频率显著高于轻度AR组(Fisher's精确概率法,P=0.007).该多态性位点的各基凶型之间,患者血清TGF-β1水平的差异无统计学意义(F=0.389,P=0.679),但血清总IgE水平(F=4.210,P=0.018)和ECP水平(H=6.297,P=0.043)的差异均有统计学意义.结论 TGFB1基因-509C/T多态件对儿童持续性AR的严重度可能有一定影响.

关 键 词:鼻炎  变应性  常年性  转化生长因子β1  多态性  单核苷酸  启动区(遗传学)  儿童

Association of TGFB1 gene polymorphism -509C/T with disease severity in childhood allergic rhinitis
Zhu Xin-jie,Zhu Lu-ping,Lu Mei-ping,Wang Mei-lin,Qi Qin-hong,Yin Min,Zhang Zheng-dong,Cheng Lei. Association of TGFB1 gene polymorphism -509C/T with disease severity in childhood allergic rhinitis[J]. Chinese journal of otorhinolaryngology head and neck surgery, 2010, 45(6): 459-464. DOI: 10.3760/cma.j.issn.1673-0860.2010.06.005
Authors:Zhu Xin-jie  Zhu Lu-ping  Lu Mei-ping  Wang Mei-lin  Qi Qin-hong  Yin Min  Zhang Zheng-dong  Cheng Lei
Affiliation:Department of Otorhinolaryngology, the First Affiliated Hospital, Nanjing Medical University, Nanjing 210029, China.
Abstract:Objective To investigate the association between the promoter polymorphism -509C/T of the transforming growth factor-pi gene (TGFB1) and the disease severity of allergic rhinitis (AR) in childhood. Methods A total of 96 Chinese patients with persistent AR aged 3-17 (9. 4 ±3. 8) years old were enrolled in the study. Among these patients 53. 1% were mild cases (n = 51 ) and 46.9% were moerate-to-severe cases (n = 45). Genotyping was performed on peripheral blood genomic DNA by using PCR-RFLP. Serum levels of TGF-β1 was measured by ELISA, and serum total IgE, specific IgE and eosinophil cationic protein (ECP) levels were determined using an ImmunoCAPlOOE system. Statistical analysis was conducted with SPSS11.0 software. Results Significant differences were found in genotype frequencies for the TGFB1 - 509C/T polymorphism between mild and moderate-to-severe AR patients (X2 = 8. 361 , P =0. 015 ). Children with persistent AR bearing the TT genotype of the - 509C/T polymorphism had significantly increased risk for moderate-to-severe AR (Fisher's exact test, P=0.007) compared to children with the CC/CT genotypes. There was no significant association between the - 509C/Tpolymorphism and serum TGF-β1 levels (F=0. 389,P=0. 679) ; however, serum total IgE (F = 4.210,P = 0.018) and ECP ( H = 6. 297, P = 0. 043) levels were found to be significantly associated with the polymorphism. Conclusion The results suggest that the TGFB1 gene polymorphism - 509C/T may play a potential role in the severity of persistent AR in childhood.
Keywords:Rhinitis,allergic,perennial  Transforming growth factor beta 1  Polymorphism,single nucleotide  Promoter regions (genetics)  Child
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