Identification of risk factors for Down syndrome

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Down syndrome is the most frequent cause of mental retardation, and is one of the important issues in the area of maternal health. It has been recently suggested that a C to T change at nucleotide 677 of MTHFR gene, which is associated with the folate metabolism, is linked to the increased risk of Down syndrome, due to the chromosomal instability by mile hyperhomocyteinmeia caused by relatively low folate status. In this research project, we conducted the molecular epidemiological study of Down syndrome, in combination with nutritional and clinical evaluation.This year, we analyzed samples collected normal group and the group with mother of Down syndrome from the Republic of Kazakhstan, where we recently reported as "folate deficient area". In normal group, there was no correlation between homocysteine and folate concentration after the adjustment for age. On the other hand, concentrations of homocysteine in T/T genotype were significantly higher than those of C/C and C/T genotypes. In addition to our previous results on the folate status in this area, our current results suggests that folate intake influence the association between MTHFR genotypes and homocysteine.Furthermore, w e compared the folate and homocysteine concentrations between control group and the group of Down syndrome, but there were no significant differences after the adjustment for age, which might be merely caused by the insufficient sample number of the group of Down syndrome. Further studies are needed in this area.