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Endothelin-1 RS5370 gene polymorphism in primary nephrotic syndrome: A case-control study
Hoda Rizk1, Ayman Hammad1, Afaf El-Said2
1Department of Pediatrics, Faculty of Medicine, University of Mansoura, Mansoura, Egypt.
Anales De Pediatria
|December 13, 2021
Summary
The GG genotype of the EDN1 gene rs5370 may increase the risk of childhood nephrotic syndrome (NS). This genotype also appears linked to a better response to steroid therapy in NS patients.
Area of Science:
- Genetics
- Pediatrics
- Nephrology
Background:
- Primary nephrotic syndrome (NS) is a prevalent glomerular disease in children.
- The endothelin 1 (EDN1) gene, specifically the rs5370 locus, is investigated for its role in NS pathogenesis.
- Understanding genetic predispositions can aid in diagnosing and managing pediatric NS.
Purpose of the Study:
- To investigate the association between EDN1 gene rs5370 genotypes and alleles and the risk of primary nephrotic syndrome in children.
- To compare genotype and allele frequencies between children with steroid-sensitive NS (SSNS), steroid-resistant NS (SRNS), and healthy controls.
- To explore potential correlations between EDN1 rs5370 variants and clinical parameters like blood pressure and treatment response.
Main Methods:
- A case-control study involving 50 SSNS patients, 50 SRNS patients, and 100 healthy controls.
- Genotyping of the EDN1 gene rs5370 locus (GG, GT, TT genotypes; G, T alleles) using polymerase chain reaction.
- Clinical evaluations and laboratory tests including serum albumin, cholesterol, creatinine, urea, and 24-h urinary protein.
Main Results:
- The GG genotype was more frequent in the NS group (both overall and SSNS subgroup) compared to controls (P=.02 and P=.03, respectively).
- The GT genotype was most common in controls (88%, P=.001).
- The GG genotype was associated with hypertension in NS patients (P<.001), while the GT genotype was linked to normal blood pressure (P=.007). No significant differences were found in allele frequencies or renal histopathology/serum cholesterol based on genotype.
Conclusions:
- The GG genotype at the EDN1 rs5370 locus may be associated with an increased risk of developing primary nephrotic syndrome in children.
- The GG genotype might also indicate a better response to steroid therapy in pediatric NS patients.
- Further research is warranted to elucidate the precise mechanisms linking EDN1 variants to NS and its clinical course.
Keywords:
Endotelina-1Endothelin-1HipertensiónHypertensionNephrotic syndromeRespuesta a corticoidesSteroid responseSíndrome nefróticoMore Related Videos
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