Human SA gene Pst1 polymorphism and chronic renal failure: Results of the family‐based study
| Autor: | Ewa Zukowska-Szczechowska, Janusz Gumprecht, Władysław Grzeszczak, Marcin Zychma |
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| Rok vydání: | 2001 |
| Předmět: |
Adult
Male Heterozygote medicine.medical_specialty Adolescent Genotype Interstitial nephritis Renal function Diabetic nephropathy chemistry.chemical_compound Gene Frequency Renal Dialysis Internal medicine Coenzyme A Ligases medicine Humans Child Alleles Transplantation Creatinine Kidney Polymorphism Genetic business.industry Proteins Creatine medicine.disease Endocrinology medicine.anatomical_structure chemistry Nephrology Immunology Kidney Failure Chronic Female Gene polymorphism business Peritoneal Dialysis Nephritis Kidney disease |
| Zdroj: | Nephrology Dialysis Transplantation. 16:387-390 |
| ISSN: | 1460-2385 0931-0509 |
| DOI: | 10.1093/ndt/16.2.387 |
| Popis: | Background. Because of the heterogeneous aetiology of kidney diseases, interactions between multiple genetic and environmental factors are thought to be involved in the process of progression to end-stage renal disease (ESRD). Raised blood pressure remains a well-established, independent risk factor for a more rapid decline of renal function in various kidney diseases. The aim of the study was to investigate the role of the human SA gene Pstl polymorphism in the development and or progression of chronic renal failure (CRF). Methods. This polymorphism was genotyped in a group of 247 family trios (offspring affected with end-stage renal disease, and both parents): 120 with primary chronic glomerulonephritis, 80 with interstitial nephritis, and 47 with diabetic nephropathy. Transmission/disequilibrium test (TDT) was used to evaluate allele transmission from heterozygous parents to affected offspring. Results. SA gene Pstl allele transmission did not differ from random proportion of 50: 50, with no significant variation in the slope of reciprocal serum creatinine over time between patients with SA Pst 1 A1A1, A1A2, and A2A2 genotypes. In addition, no impact of this marker on the rate of progression of CRF in the course of diabetes mellitus, interstitial nephritis, and chronic glomerular nephritis was shown. Conclusion. Results of the study suggest no major role of SA gene polymorphism in promoting renal damage. However, the limited numbers of patients having both parents alive included in the analysis might have resulted in insufficient power to detect a minor impact of this polymorphism, especially if such effect is confined to a certain aetiology of CRF. |
| Databáze: | OpenAIRE |
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