Abstract
Aims: To investigate the relationship between endothelin-1 gene polymorphisms in loci /INS;rs1630736, rs5370, and /INS;3A/4A and the morbidity and progress of nephrotic syndrome (NS) in children. Methods: 36 children with primary NS were treated /INS;as case group while/INS; /INS;94 healthy children were treated /INS;as control. All subjects were genotyped for endothelin-1 polymorphisms in loci /INS;3A/4A, rs5370 and rs1630736 by using polymerase chain reaction and direct gene sequence test technique. Results: (1) In locus rs5370, the frequencies of the /INS;GG, GT, and /INS;TT genotypes /INS;were statistically significantly different /INS;within the /INS;case group and control group (χ2 = 6.25, P = 0.044). (2) In locus 3A/4A, the frequencies of the /INS;3A/3A, 3A/4A, and /INS;4A/4A genotypes /INS;were statistically significantly different /INS;within the /INS;case group and control group /INS;(χ2 = 5.47, P = 0.048). (3) In locus rs1630736, the frequencies of the /INS;CC, CT, and /INS;TT genotypes /INS;were not /INS;statistically significantly different /INS;within the /INS;case group and control group. (4) In the /INS;GG + CT + 3A/4A combined genotype, the difference between the /INS;case group and the /INS;control group on gene frequency distribution was statistically significant /INS;(χ2 = 4.65, P = 0.03). (5) The plasma level of ET-1 between the /INS;case group and the /INS;control group (t = 2.85, P = 0.007), and /INS;the active phase and remittent phase of the /INS;case group had statistical significance (t = 3.27, P = 0.003). (6) The difference between gene frequency distributions /INS;in loci /INS;rs5370 and /INS;3A/4A and plasma of cholesterol had statistical significance (P<0.05). Conclusions: (1) The endothelin-1 gene polymorphisms in loci /INS;rs5370 and 3A/4A are related to the morbidity of nephrotic syndrome. (2) In loci /INS;rs5370, rs1630736 and 3A/4A, the GG + CT + 3A/4A combined genotype shows /INS;greater risk of nephrotic syndrome. (3) Loci/INS; rs5370 and 3A/4A are related to the plasma cholesterol level in NS children.
