Influencia de la metilentetrahidrofolatoreductasa (MTHFR) en la predisposición genética a DM2 en la población argentina

GILIBERTO FLORENCIA, ; CÉDOLA N, ; CÉDOLA F, ; PUCHULU F, ; LOBO P ; FRECHTEL GUSTAVO.

Mendoza, Argentina.

Congreso; XV Congreso Argentino de Diabetes; 2006

ABSTRACT Aims The etiology of Type 2 diabetes mellitus (T2DM) is a result of a complex interaction between environmental influence and genetic background. The environment can affect the degeneration of epigenetic marks causing modifications in the DNA methylation patterns and should be considered in the context of disease predisposition. The increase of plasma homocysteine (metabolic intermediary in methylation reactions) would be associated with nutritious deficiencies or genetic polymorphisms in the metabolic pathway of the folate. There is a single nucleotide polymorphism  (SNP)  (C677T) in the methylenetetrahydrofolate reductase (MTHFR) gene that decreases the enzyme efficiency, leading to a global hypomethylation of DNA. This hypomethylation of DNA should be deregulating genes and they would cause different functional disorders. Recent publications relate this sequence variant with a predisposition to develop T2DM and other complications of the metabolic syndrome in many ethnic groups. The aim of this work was to analyze the influence of C677T polymorphism of the MTHFR gene in the genetic predisposition to T2DM in an Argentine population. Methods Study subjects comprised 108 T2DM patients and 92 control subjects. C677T genotype were determined by PCR-RFLP analysis. Results The genotypic frequencies were (CC-CT-TT) (%) 40.7-47.2-12 in T2DM and 40.2-49-10.87 in control subjects. The frequency of the T allele was 35.6 % in T2DM and 35.3 % in control subjects. Conclusions In conclusion our work showed that the difference between the genotypes and T allelic frequency in T2DM patients and control subjects was not significative (P›0.05%); suggesting that this SNP would be not implicated in the etiopathogeny of the T2DM in the Argentine population.