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学科主题: 临床医学
题名:
Genetic variations of the NR3C1 gene in children with sporadic nephrotic syndrome
作者: Ye, Jianwei; Yu, Zihua; Ding, Jie; Chen, Yan; Huang, Jianping; Yao, Yong; Xiao, Huijie; Yang, Jiyun; Shen, Ying; Meng, Qun
关键词: steroid-resistant nephrotic syndrome ; NR3C1 ; glucocorticoid receptor ; polymorphism ; haplotype
刊名: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
发表日期: 2006-09-22
DOI: 10.1016/j.bbrc.2006.07.097
卷: 348, 期:2, 页:507-513
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Biochemistry & Molecular Biology ; Biophysics
研究领域[WOS]: Biochemistry & Molecular Biology ; Biophysics
关键词[WOS]: GLUCOCORTICOID-RECEPTOR GENE ; IN-VITRO ; GLOMERULAR PROTEIN ; N363S VARIANT ; MUTATIONS ; NPHS2 ; POLYMORPHISMS ; ASSOCIATION ; SENSITIVITY ; PODOCIN
英文摘要:

Previous studies have demonstrated that the genetic variations of glucocorticoid receptor gene (NR3C1) are associated with both familial steroid resistance and acquired steroid resistance in some diseases, such as Cushing′s disease, leukemia, lupus nephritis, and female pseudohermaphroditism. In this study, we examined the genetic variations of NR3C1 in 35 children with sporadic steroid-resistant nephrotic syndrome (SRNS), and in 83 cases with sporadic steroid - sensitive NS (SSNS) using polymerase chain reaction, denaturing high-performance liquid chromatography and DNA sequencing, and analyzed possible associations between NR3C1 variants and steroid resistance in sporadic NS. No causative mutations were found; however, six previously identified and six novel polymorphisms, 1206C > T, 1374A > G, 2382C > T, 2193T > G, IVS7-68_-63delAAAAAA, and IVS8-9C > G, were detected. Two novel haplotypes, [1374A > G; IVS7-68_-63delAAAAAA; IVS8-9C > G; 2382C > T] and [1896C > T; 2166C > T; 2430T > C], of NR3C1 were also identified in sporadic NS and controls. The odds ratios (95% Confidence Interval) for the two novel NR3C1 haplotypes in the sporadic nephrotic children at risk of steroid resistance were 4.970 (0.889-27.788) and 2.194 (0.764-6.306), respectively, but the association between NR3C1 haplotypes and steroid resistance was not significant. Further studies on the possible association between the two novel NR3C1 haplotypes and steroid resistance in sporadic NS in larger cohorts are required. (c) 2006 Elsevier Inc. All rights reserved.

语种: 英语
WOS记录号: WOS:000240275000026
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/65867
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Fuzhou Gen Hosp, Dept Pediat, Fuzhou, Fujian, Peoples R China
2.Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China
3.Capital Univ Med Sci, Beijing Childrens Hosp, Beijing, Peoples R China

Recommended Citation:
Ye, Jianwei,Yu, Zihua,Ding, Jie,et al. Genetic variations of the NR3C1 gene in children with sporadic nephrotic syndrome[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,2006,348(2):507-513.
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