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Plasmatic higher levels of homocysteine in Non-alcoholic fatty liver disease (NAFLD)

Sylene Coutinho Rampche de Carvalho13, Maria Tereza Cartaxo Muniz1247*, Maria Deozete Vieira Siqueira124, Erika Rabelo Forte Siqueira36, Adriana Vieira Gomes124, Karina Alves Silva2, Laís Carvalho Luma Bezerra2, Vânia D’Almeida5, Claudia Pinto Marques Souza de Oliveira6 and Leila Maria M Beltrão Pereira13

Author affiliations

1 School of Medicine, Universityof Pernambuco, Pernambuco, Brazil

2 Pediatrics Hematology and Oncology Center, University of Pernambuco, Pernambuco, Brazil

3 Liver Institute of Pernambuco, Pernambuco, Brazil

4 Biological Science Institute, University of Pernambuco, Pernambuco, Brazil

5 Department of Pediatrics, Federal University of São Paulo, São Paulo, Brazil

6 School of Medicine, University of São Paulo, São Paulo, Brazil

7 Instituto do Fígado de Pernambuco, Arnóbio Marques Street, 310, Santo Amaro- Recife, PE, Zip Code: 50.100-130, Brazil

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Citation and License

Nutrition Journal 2013, 12:37  doi:10.1186/1475-2891-12-37

Published: 2 April 2013



Non-alcoholic fatty liver disease (NAFLD) is a chronic liver disease, which includes a spectrum of hepatic pathology such as simple steatosis, steatohepatitis, fibrosis and cirrhosis. The increased serum levels of homocysteine (Hcy) may be associated with hepatic fat accumulation. Genetic mutations in the folate route may only mildly impair Hcy metabolism. The aim of this study was to investigate the relation between liver steatosis with plasma homocysteine level and MTHFR C677T and A1298C polymorphisms in Brazilian patients with NAFLD.


Thirty-five patients diagnosed with NAFLD by liver biopsy and forty-five healthy controls neither age nor sex matched were genotyped for C677T and A1298C MTHFR polymorphisms using PCR-RFLP and PCR-ASA, respectively, and Hcy was determined by HPLC. All patients were negative for markers of Wilson’s, hemochromatosis and autoimmune diseases. Their daily alcohol intake was less than 100 g/week. A set of metabolic and serum lipid markers were also measured at the time of liver biopsies.


The plasma Hcy level was higher in NAFLD patients compared to the control group (p = 0.0341). No statistical difference for genotypes 677C/T (p = 0.110) and 1298A/C (p = 0.343) in patients with NAFLD and control subjects was observed. The genotypes distribution was in Hardy-Weinberg equilibrium (677C/T p = 0.694 and 1298 A/C p = 0.188). The group of patients and controls showed a statistically significant difference (p < 0.001) for BMI and HOMA_IR, similarly to HDL cholesterol levels (p < 0,006), AST, ALT, γGT, AP and triglycerides levels (p < 0.001). A negative correlation was observed between levels of vitamin B12 and Hcy concentration (p = 0.005).


Our results indicate that plasma Hcy was higher in NAFLD than controls. The MTHFR C677T and A1298C polymorphisms did not differ significantly between groups, despite the 677TT homozygous frequency was higher in patients (17.14%) than in controls (677TT = 4.44%) (p > 0.05). The suggested genetic susceptibility to the MTHFR C677T and A1298C should be confirmed in large population based studies.

Fatty liver; Non-alcoholic steatohepatitis; Methylenetetrahydrofolate reductase (MTHFR); Oxidative stress; Polymorphisms