气候变化领域集成服务门户(CCPortal): ACTN4 Gene Mutations and Single Nucleotide Polymorphisms in Idiopathic Focal Segmental Glomerulosclerosis

CCPortal

DOI	10.1159/000191198
	ACTN4 Gene Mutations and Single Nucleotide Polymorphisms in Idiopathic Focal Segmental Glomerulosclerosis
	Dai, Shengchuan; Wang, Zhaohui; Pan, Xiaoxia; Chen, Xiaonong; Wang, Weiming; Ren, Hong; Feng, Qi; He, John Cijiang; Han, Bin; Chen, Nan
发表日期	2009
ISSN	1660-2110
卷号	111 期号:2
英文摘要	Aim: To investigate the association between mutations or single nucleotide polymorphisms (SNPs) of the gene ACTN4 in Chinese patients with idiopathic focal segmental glomerulosclerosis (FSGS). Materials and Methods: Genomic DNA of 82 Chinese idiopathic FSGS patients and 70 healthy people were used to analyze ACTN4 gene mutations by polymerase chain reaction, direct sequencing and GenBank matching. Hair follicle DNA of novel mutated patients' parents were sequenced and alpha-actinin-4 expression in patients' kidney was examined by immunofluorescence. For SNPs, after the Hardy-Weinberg equilibrium test, allele association and the frequencies of genotypes were analyzed, followed by association analysis between genotypes and clinical diagnosis. Results: We found a heterozygous candidate mutation 184T>A (S62T) in 1 patient and a 5' UTR candidate mutation 1-34C>T in another patient. Both patients had non-nephrotic syndrome FSGS with reduced kidney alpha-actinin-4 expression. Promoter activity analysis suggests that the 1-34C>T candidate mutation may affect the transcriptional regulation of ACTN4 gene. Additionally, 6 novel silent variants and 2 novel SNPs were also found in this study. Novel SNP 484 + 87C>G had a significant association with the level of urine protein excretion in these idiopathic FSGS patients. Conclusions: Our data suggest that mutations and SNP of ACTN4 gene may contribute to be associated with Chinese idiopathic FSGS. Copyright (C) 2009 S. Karger AG, Basel
关键词	Idiopathic focal segmental glomerulosclerosis Gene mutations
学科领域	Urology & Nephrology
语种	英语
WOS研究方向	Urology & Nephrology
来源期刊	NEPHRON CLINICAL PRACTICE
来源机构	中国科学院西北生态环境资源研究院
文献类型	期刊论文
条目标识符	http://gcip.llas.ac.cn/handle/2XKMVOVA/111566
作者单位	Shanghai Jiao Tong Univ, Sch Med, Ruijin Hosp, Dept Nephrol, Shanghai 200025, Peoples R China
推荐引用方式 GB/T 7714	Dai, Shengchuan,Wang, Zhaohui,Pan, Xiaoxia,et al. ACTN4 Gene Mutations and Single Nucleotide Polymorphisms in Idiopathic Focal Segmental Glomerulosclerosis[J]. 中国科学院西北生态环境资源研究院,2009,111(2).
APA	Dai, Shengchuan.,Wang, Zhaohui.,Pan, Xiaoxia.,Chen, Xiaonong.,Wang, Weiming.,...&Chen, Nan.(2009).ACTN4 Gene Mutations and Single Nucleotide Polymorphisms in Idiopathic Focal Segmental Glomerulosclerosis.NEPHRON CLINICAL PRACTICE,111(2).
MLA	Dai, Shengchuan,et al."ACTN4 Gene Mutations and Single Nucleotide Polymorphisms in Idiopathic Focal Segmental Glomerulosclerosis".NEPHRON CLINICAL PRACTICE 111.2(2009).