Transforming growth factor-β1: relation between its single-nucleotide genetic variants and sickle cell nephropathy

Abstract

Abstract Background Sickle cell nephropathy is a complication of sickle cell disease characterized by functional abnormalities of the kidney and glomeruli. Our study aimed to investigate the single-nucleotide genetic variants in TGF-β-1-related genes as an early predictor of sickle cell nephropathy (SCN) risk. Methods Two hundred participants, 100 patients with SCD, and 100 age and sex-matched control. The study included full history taking, clinical examination, and laboratory evaluation. Renal function tests (serum urea and creatinine, microalbuminuria, albumin/ creatinine ratio, and e-GFR). Genotyping for TGF-β1 genetic variants rs1800469 and rs1800471. Results Twenty-one percent of patients had glomerular hyperfiltration, while 31% had reduced e-GFR. Microalbuminuria was present in 14%, and none had macroalbuminuria or edema. TGF-β1 genotyping revealed a statistically significant difference in the rs 1800471 C allele, which was more common in the control group (p 0.028). No significant correlation between the result of TGF‐ β genotyping and the albumin-to-creatinine ratio, creatinine, and e-GFR. Conclusion TGF-β1 rs1800469 and rs1800471 genetic variants were not associated with the risk of sickle nephropathy in children with sickle cell disease.

Keywords

• SCD
• SCN
• TGF-β 1