The Potential Impact of MYH9 (rs3752462) and ELMO1 (rs741301) Genetic Variants on the Risk of Nephrotic Syndrome Incidence

• Published in: Biochemical genetics Vol. 62; no. 2; pp. 1304 - 1324
• Main Authors: Hassan, Eglal A, Elsaid, Afaf M, Abou -Elzahab, M M, El-Refaey, Ahmed M., Elmougy, Rehab, Youssef, Magdy M.
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.04.2024; Springer Nature B.V
• Subjects: Adaptor Proteins, Signal Transducing - genetics; Biochemistry; Biomedical and Life Sciences; Biomedicine; Child; Children; Edema; Genetic diversity; Genetic variance; Genotype; Genotypes; Human Genetics; Humans; Hyperlipidemia; Incidence; Kidney diseases; Medical Microbiology; MYH9 gene; Myosin Heavy Chains - genetics; Nephrotic syndrome; Nephrotic Syndrome - drug therapy; Nephrotic Syndrome - genetics; Nucleotide sequence; Original Article; Proteinuria; Risk factors; Statistical analysis; Steroids; Steroids - therapeutic use; Zoology; MYH9; Nephrotic syndrome; Genetic variant; ELMO1 gene; PCR
• ISSN: 0006-2928; 1573-4927; 1573-4927
• DOI: 10.1007/s10528-023-10481-y

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-dependent (SDNS) 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 gene (rs741301 G > A) variant as risk factors for Nephrotic Syndrome. This study aimed to determine the potential effect of the MYH9 gene (rs3752462, C > T) and ELMO1 gene (rs741301) variant on the risk of (NS) among Egyptian Children. This study included two hundred participants involving 100 nephrotic syndrome (NS) cases and 100 healthy controls free from nephrotic syndrome (NS). The MYH9 gene (rs3752462, C > T) variant and ELMO1 gene (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 (rs3752462, C > T) variant were observed in NS patients compared to the controls with p -value < 0.001. The frequencies of the MYH9 (rs3752462, 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 ELMO1gene (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 ELMO1 gene variants are significantly different in NS in comparison with the control group ( p  < 0.001). The MYH9 gene (rs3752462, C > T) and ELMO1gene (rs G > A741301) variants were considered independent risk factors for NS among Egyptian Children.