MTHFR C677T and A1298C Gene Polymorphisms, Hyperhomocysteinemia, and Intimal Medial Thickness as Risk Factors of End-Stage Renal Disease in Children on Hemodialysis

Journal of Clinical and Basic Cardiology

Elghoroury EA¹  El-Saaid GS¹  El-Sonbaty MM¹  Elshamaa MF¹  Kamel S¹  Esam R¹  Hamdy R¹  Abd-El Haleem DA¹ 

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关键词: A1298C;    C677T;    child;    end-stage renal disease;    MTHFR;    single nucleotide polymorphism;   

DOI  :  

学科分类：心脏病和心血管学

来源: Krause & Pachernegg GmbH

【 摘 要 】

Background: The methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism has been shown to be associated with cardiovasculardisease and in patients with end-stage renal disease (ESRD). However, the relationship between MTHFR polymorphisms and cardiovasculardisease (CVD) in patients on hemodialysis has not been examined. The aim of this study was to assess the association of polymorphisms ofMTHFR gene with homocysteine (Hcy) and intimal medial thickness (IMT) in children on hemodialysis. Methods: We performed a casecontrolstudy comprising 55 pediatric patients with ESRD and 55 healthy children as controls. Plasma Hcy was measured in all the subjects andthese subjects were genotyped for 2 MTHFR polymorphisms (C677T and A1298C). Results: We observed significantly higher Hcy levels inpatients compared to controls. The frequency of MTHFR 1298CC genotype was significantly higher in ESRD children than in controls (21.82% vs 5.45 %) and the frequency of the MTHFR 677TT genotype differs significantly between groups (18.18 % vs 0.00 %). The frequency ofco-occurrence of MTHFR 677CT/1298AC and 677TT/1298CC was significantly higher in patients than controls and was associated with anincreased risk of disease (p < 0.05). MTHFR 1298AC+CC genotypes were associated with higher Hcy levels. IMT was also significantlyhigher in patients with the 1298AC+CC genotypes (p < 0.05). Conclusion: A1298C polymorphism of MTHFR gene appears to be associatedwith the severity of carotid atherosclerosis and co-occurrence of MTHFR polymorphisms has a synergistic effect on increased risk of diseasesusceptibility.

【 授权许可】

Unknown