Association of endothelin-1 gene polymorphisms with the clinical phenotype in primary nephrotic syndrome of children

• Published in: Life sciences (1973) Vol. 118; no. 2; pp. 446 - 450
• Main Authors: Yang, Fang, Lai, Xinlong, Deng, Li, Liu, Xiaoxiao, Li, Jian, Zeng, Shuixiu, Zhang, Cheng, Hocher, Carl-Friedrich, Hocher, Berthold
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Inc 24.11.2014
• Subjects: Blood Urea Nitrogen; Case-Control Studies; Child; Childhood nephrotic syndrome; Cholesterol; Creatinine - blood; Endothelin-1; Endothelin-1 - genetics; Female; Gene Frequency; Gene polymorphism; Genetic Predisposition to Disease; Humans; Male; Nephrotic Syndrome - blood; Nephrotic Syndrome - genetics; Nephrotic Syndrome - urine; Phenotype; Polymorphism, Single Nucleotide - genetics; Childhood nephrotic syndrome; Gene polymorphism; Cholesterol; Endothelin-1
• DOI: 10.1016/j.lfs.2014.04.010
• ISSN: 0024-3205

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. 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. 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). 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. [Display omitted]