The potential impact of MYH9 gene (rs3752462) and ELMO1 (rs741301) variants on the risk of Nephrotic syndrome incidence

Abstract

Abstract The kidney lost a lot of protein in the urine when you have nephrotic syndrome (NS). Clinical manifestations mostly common in NS include massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Idiopathic nephrotic syndrome is currently classified into steroid-sensitive (SSNS) and steroid-resistant (SRNS) based on the initial response to corticosteroid therapy at presentation. Several reports examined the association of the MYH9 gene (rs3752462, C >T) variant and ELMO1 (rs741301 G >A) variant as risk factors for Nephrotic Syndrome. This study aimed to determine the potential effect of the MYH9 gene (rs375246, C >T) and ELMO1 (rs741301) variant on the risk of (NS) among Egyptian Children. This study included two hundred participants involving 100 NS cases and 100 healthy controls free from NS. The MYH9 gene (rs3752462, C >T) variant and ELMO1 (rs G>A741301) variant were analyzed by ARMS-PCR technique. Nephrotic syndrome cases include 74% SRNS and 26% SDNS. Higher frequencies of the heterozygous carrier (CT) and homozygous variant (TT) genotypes of the MYH9 (rs375246, C >T) variant were observed in NS patients compared to the controls with p-value < 0.001.The frequencies of the MYH9 (rs375246, C >T variant indicated a statistically significant elevated risk of NS under various genetic models, including allelic model (OR=2.85, p<0.001), dominant (OR =3.97, P < 0.001) models and the recessive model OR = 5.94, p< 0.001). Higher frequencies of the heterozygous carrier (GA) and homozygous variant (AA) genotypes of ELMO1 (rs G>A741301) variant were observed in NS patients compared to the controls with p-value <0.001. The frequencies of the ELMO1 (rs G>A741301) variant indicated a statistically significant elevated risk of NS under various genetic models, including allelic model (OR=2.15, p<0.001), dominant models (OR=2.8, p<0.001) and the recessive model (OR = 4.17, p=0.001). Both MYH9 and ELMO1variants are significantly different in NS in comparison with the control group (p<0.001).The MYH9 gene (rs375246, C >T) and ELMO1 (rs G>A741301) variants were considered independent risk factors for NS among Egyptian Children.