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Genetic variations of the NR3C1 gene in children with sporadic nephrotic syndrome
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
2006-09-22
DOI10.1016/j.bbrc.2006.07.097
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
引用统计
被引频次:4[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/65867
专题北京大学第一临床医学院_儿科
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
推荐引用方式
GB/T 7714
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.
APA Ye, Jianwei.,Yu, Zihua.,Ding, Jie.,Chen, Yan.,Huang, Jianping.,...&Meng, Qun.(2006).Genetic variations of the NR3C1 gene in children with sporadic nephrotic syndrome.BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,348(2),507-513.
MLA Ye, Jianwei,et al."Genetic variations of the NR3C1 gene in children with sporadic nephrotic syndrome".BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 348.2(2006):507-513.
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