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学科主题临床医学
Common Apolipoprotein E Gene Mutations Contribute to Lipoprotein Glomerulopathy in China
Han, Jia1; Pan, Yongli1; Chen, Yuqing1; Li, Xia2; Xing, Guangqun3; Shi, Junhua4; Hou, Ping1; Zhang, Hong1; Wang, Haiyan1
关键词Lipoprotein Glomerulopathy Apolipoprotein e Apoe Mutations
刊名NEPHRON CLINICAL PRACTICE
2010
DOI10.1159/000276578
114期:4页:C260-C267
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Urology & Nephrology
资助者Capital Medical Development ; Grant for Excellent Scientist ; Capital Medical Development ; Grant for Excellent Scientist
研究领域[WOS]Urology & Nephrology
关键词[WOS]ACID DELETION ; VARIANT ; APOE ; RECEPTOR ; PATIENT ; BINDING
英文摘要

Background: Lipoprotein glomerulopathy (LPG) is a unique disease characterized by thrombus-like lipoprotein deposition in glomeruli and an increased serum apolipoprotein E level (ApoE protein or APOE gene). Several APOE mutations contribute to the occurring of LPG. Methods: We confirmed LPG in 7 individuals by renal biopsy, and investigated families of 2 patients with urinalysis, serum creatinine and serum lipid examination. Exons of APOE of all individuals as well as their relatives were amplified and sequenced directly. Results: Two types of APOE mutations were identified in the 7 patients and their relatives. APOE Maebashi (Arg142-Leu144 -> 0) heterozygotes were found in 5 individuals who were from 4 different families. APOE Kyoto (Arg25-Cys) was confirmed heterogeneous in another 2 individuals. Both mutations present incomplete penetrance. Conclusion: Our research indicates that APOE Maebashi (Arg142-Leu144 -> 0) is a common mutation in Chinese LPG. However, not all carriers of the 2 mutations have LPG, although hyperlipidemia and high serum ApoE level are tested. There are likely other reasons, such as a local mechanism in the glomeruli, which participated in the renal injury. Copyright (C) 2010 S. Karger AG, Basel

语种英语
所属项目编号ZD199910 ; 2003-2001 ; 985-2-007-113
资助者Capital Medical Development ; Grant for Excellent Scientist ; Capital Medical Development ; Grant for Excellent Scientist
WOS记录号WOS:000273804900009
Citation statistics
Cited Times:7[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/57599
Collection北京大学第一临床医学院_肾脏内科
作者单位1.Peking Univ, Hosp 1, Div Renal, Beijing 100034, Peoples R China
2.Tradit Chinese Med Univ, Dongzhimen Hosp, Div Renal, Beijing, Peoples R China
3.Qingdao Med Univ, Hosp 1, Div Renal, Qingdao, Peoples R China
4.Tanggu Hosp, Div Renal, Tianjin, Peoples R China
Recommended Citation
GB/T 7714
Han, Jia,Pan, Yongli,Chen, Yuqing,et al. Common Apolipoprotein E Gene Mutations Contribute to Lipoprotein Glomerulopathy in China[J]. NEPHRON CLINICAL PRACTICE,2010,114(4):C260-C267.
APA Han, Jia.,Pan, Yongli.,Chen, Yuqing.,Li, Xia.,Xing, Guangqun.,...&Wang, Haiyan.(2010).Common Apolipoprotein E Gene Mutations Contribute to Lipoprotein Glomerulopathy in China.NEPHRON CLINICAL PRACTICE,114(4),C260-C267.
MLA Han, Jia,et al."Common Apolipoprotein E Gene Mutations Contribute to Lipoprotein Glomerulopathy in China".NEPHRON CLINICAL PRACTICE 114.4(2010):C260-C267.
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