MTHFR C677T polymorphism in indonesian patients with oral cleft

The complex pathogenesis and etiology of orofacial cleft (OFC) include numerous environmental, genetic, and epigenetic contributing factors. Recent studies have implicated the MTHFR C677T polymorphism as a possible risk factor for orofacial cleft . The aim of the present work was to assess the genotype distribution of the MTHFRC677T polymorphism in Indonesian OFC patients and healthy control subjects. The PCR-RFLP techniques was used to identify the MTHFRC677T genotypes and allesles in 24 cleft cases and 47 control subjects. A significant association was noted in the distribution of genotypes of MTHFRC677T polymorphism between the cleft cases and the control group. The results showed a more pronounced dominance of the CC genotype (79.2% of cleft cases) and a clearer rarity of the TT genotype (none observed in the cleft cases) than has been generally reported for the same polymorphism elsewhere. In conclusion, an association was found between the MTHFRC677T polymorphism and OFC status in Indonesia. However, the number of included cleft cases was relatively small and the study should be extended to a larger sample.