Fang Yang1, Xinlong Lai2, Li Deng2, Xiaoxiao Liu2, Jian Li3, Shuixiu Zeng2, Cheng Zhang4, Carl-Friedrich Hocher5, Berthold Hocher6. 1. Department of Pediatrics, First Affiliated Hospital of Jinan University, Guangzhou, Guangdong, China. Electronic address: tyf@jnu.edu.cn. 2. Department of Pediatrics, First Affiliated Hospital of Jinan University, Guangzhou, Guangdong, China. 3. Department of Clinical Medicine, Medical college of Hunan Normal University, Changsha, China. 4. Department of Pediatrics, Zhuhai Hospital of Jinan University, Zhuhai, Guangdong, China. 5. Institute of Nutritional Science, University of Potsdam, Germany and Jinan University, Guangzhou, China. 6. Institute of Nutritional Science, University of Potsdam, Germany and Jinan University, Guangzhou, China. Electronic address: hocher@uni-potsdam.de.
Abstract
AIMS: 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. MATERIALS AND 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. KEY FINDINGS: 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). SIGNIFICANCE: 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.
AIMS: 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. MATERIALS AND 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. KEY FINDINGS: Plasma ET-1 concentrations were higher in NSpatients (P=0.007) as compared to healthy children. The allele frequencies between control and NSpatients were significantly different only with respect to the rs10478694 SNP of the ET-1 gene. The allele frequencies between control and NSpatients for the rs5370 SNP showed a trend towards difference (P=0.057). Plasma cholesterol in NSpatients is associated with both: the GT genotype in locus rs5370 and the 3A4A genotype in locus rs10478694 (P<0.05 in both cases). SIGNIFICANCE: 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 humanET-1 gene.