TY  - JOUR
A1  - Yang, Fang
A1  - Lai, Xinlong
A1  - Deng, Li
A1  - Liu, Xiaoxiao
A1  - Li, Jian
A1  - Zeng, Shuixiu
A1  - Zhang, Cheng
A1  - Hocher, Carl-Friedrich
A1  - Hocher, Berthold
T1  - Association of endothelin-1 gene polymorphisms with the clinical phenotype in primary nephrotic syndrome of children
JF  - Life sciences : molecular, cellular and functional basis of therapy
N2  - 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 Cl 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. (C) 2014 Elsevier Inc. All rights reserved.
KW  - Endothelin-1
KW  - Gene polymorphism
KW  - Childhood nephrotic syndrome
KW  - Cholesterol
Y1  - 2014
U6  - https://doi.org/10.1016/j.lfs.2014.04.010
SN  - 0024-3205
SN  - 1879-0631
VL  - 118
IS  - 2
SP  - 446
EP  - 450
PB  - Elsevier
CY  - Oxford
ER  -