Methylenetetrahydrofolate Reductase Gene C677T Polymorphism, Plasma Homocysteine and Folate in End-Stage Renal Disease Dialysis and Non-Dialysis Patients
| Autor: | Marcin Zychma, Ewa Zukowska-Szczechowska, Władysław Grzeszczak, Janusz Gumprecht |
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| Rok vydání: | 2002 |
| Předmět: |
Adult
Male medicine.medical_specialty Adolescent Genotype Homocysteine Offspring Renal function Polymorphism Single Nucleotide End stage renal disease chemistry.chemical_compound Folic Acid Renal Dialysis Risk Factors Internal medicine medicine Humans Genetic Predisposition to Disease Methylenetetrahydrofolate Reductase (NADPH2) Oxidoreductases Acting on CH-NH Group Donors biology business.industry Age Factors Case-control study medicine.disease Endocrinology chemistry Methylenetetrahydrofolate reductase Disease Progression biology.protein Kidney Failure Chronic Female business Kidney disease |
| Zdroj: | Nephron. 92:235-239 |
| ISSN: | 2235-3186 1660-8151 |
| DOI: | 10.1159/000064458 |
| Popis: | Background: It has been recently suggested that the presence of the methylenetetrahydrofolate reductase gene 677TT genotype is associated with younger age at initiation of dialysis, thus raising a hypothesis that younger renal patients carrying the TT genotype are at higher risk to develop end-stage renal disease. The aim of this study was to test the association between the C677T polymorphism and the presence of end-stage renal disease using a family-based study design. Material and Method: C677T polymorphism was genotyped in a group of 247 family trios (offspring affected with end-stage renal disease, dialysed or conservatively treated, and both parents). Transmission/disequilibrium test (TDT) was used to evaluate allele transmission from heterozygous parents to affected offspring. Results: The TDT analysis revealed no significant deviation in the transmission of the MTHFR C677T alleles to CRF patients (51 vs. 49% for the C allele and T allele transmission, respectively). We observed a significant relationship between MTHFR genotypes and total plasma homocysteine (tHcy), as well as folate concentration. Also, plasma tHcy and folate were negatively correlated. Conclusion: Our results did not show any association between the MTHFR reductase C677T polymorphism and the increased risk of the development of end-stage renal disease. Whether this polymorphism contributes to the faster rate of decline of renal function in renal patients, must be evaluated further. |
| Databáze: | OpenAIRE |
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