Association of endothelin-1 gene polymorphisms with the clinical phenotype in primary nephrotic syndrome of children
作者： Fang Yang , Xinlong Lai , Li Deng , Xiaoxiao Liu , Jian Li
DOI: 10.1016/J.LFS.2014.04.010
关键词:
摘要: 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) children. Materials methods Thirty-six children with NS were selected as case group, 94 healthy control group. All subjects genotyped for three single nucleotide (SNPs) (rs5370, rs10478694 [3A4A] rs 1630736) by sequencing. The concentrations measured using a radio-immunoassay. Key findings Plasma higher patients ( P = 0.007) compared allele frequencies significantly different only respect SNP gene. rs5370 showed trend towards difference = 0.057). cholesterol is associated both: GT genotype locus 3A4A Significance ET systems might play disease modifying role pediatric NS. cholesterol, hallmark NS, seems be genetic variations within human
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