title: Association of endothelin-1 gene polymorphisms with the clinical phenotype in primary nephrotic syndrome of children.
abstract: OBJECTIVE
  This study aims to investigate the relationship between plasma endothelin-1 (ET-1) concentrations, ET-1 gene polymorphisms in loci rs5370, rs1630736, 3A/4A and clinical features of primary nephrotic syndrome (NS) in children.
  
  
  METHODS
  Thirty-six children with primary NS were selected as case group, and 94 healthy children were selected as control group. All subjects were genotyped for three single nucleotide polymorphisms (SNPs) (rs5370, rs10478694 [3A4A] and rs 1630736) in the ET-1 gene by gene sequencing. The plasma ET-1 concentrations were measured using a radio-immunoassay.
  
  
  RESULTS
  Plasma ET-1 concentrations were higher in NS patients (P=0.007) as compared to healthy children. The allele frequencies between control and NS patients were significantly different only with respect to the rs10478694 SNP of the ET-1 gene. The allele frequencies between control and NS patients for the rs5370 SNP showed a trend towards difference (P=0.057). Plasma cholesterol in NS patients is associated with both: the GT genotype in locus rs5370 and the 3A4A genotype in locus rs10478694 (P<0.05 in both cases).
  
  
  CONCLUSIONS
  The ET systems might play a disease modifying role in pediatric NS. Plasma cholesterol, a hallmark of NS, seems to be associated with genetic variations within the human ET-1 gene.
authors.affiliation: Department of Pediatrics, First Affiliated Hospital of Jinan University, Guangzhou, Guangdong, China. Electronic address: tyf@jnu.edu.cn.
authors.forename: Fang
authors.initials: F
authors.lastname: Yang
authors.affiliation: Department of Pediatrics, First Affiliated Hospital of Jinan University, Guangzhou, Guangdong, China.
authors.forename: Xinlong
authors.initials: X
authors.lastname: Lai
authors.affiliation: Department of Pediatrics, First Affiliated Hospital of Jinan University, Guangzhou, Guangdong, China.
authors.forename: Li
authors.initials: L
authors.lastname: Deng
authors.affiliation: Department of Pediatrics, First Affiliated Hospital of Jinan University, Guangzhou, Guangdong, China.
authors.forename: Xiaoxiao
authors.initials: X
authors.lastname: Liu
authors.affiliation: Department of Clinical Medicine, Medical college of Hunan Normal University, Changsha, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Li
authors.affiliation: Department of Pediatrics, First Affiliated Hospital of Jinan University, Guangzhou, Guangdong, China.
authors.forename: Shuixiu
authors.initials: S
authors.lastname: Zeng
authors.affiliation: Department of Pediatrics, Zhuhai Hospital of Jinan University, Zhuhai, Guangdong, China.
authors.forename: Cheng
authors.initials: C
authors.lastname: Zhang
authors.affiliation: Institute of Nutritional Science, University of Potsdam, Germany and Jinan University, Guangzhou, China.
authors.forename: Carl-Friedrich
authors.initials: CF
authors.lastname: Hocher
authors.affiliation: Institute of Nutritional Science, University of Potsdam, Germany and Jinan University, Guangzhou, China. Electronic address: hocher@uni-potsdam.de.
authors.forename: Berthold
authors.initials: B
authors.lastname: Hocher
mesh_terms: D001806:Blood Urea Nitrogen; D016022:Case-Control Studies; D002648:Child; D003404:Creatinine / Q000097:blood; D019332:Endothelin-1 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009404:Nephrotic Syndrome / Q000097:blood / Q000235:genetics* / Q000652:urine; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D019332:Endothelin-1; D003404:Creatinine
keywords: Childhood nephrotic syndrome; Cholesterol; Endothelin-1; Gene polymorphism