Evaluation of the relationship between methyltetrahydrofolate reductase (MTHFR) gene polymorphism, folate metabolism and homocysteine value in father-mather-child as a risk of Down's syndrome: a clinic study

Headnote

Keywords: Down syndrome, mother, father, child

[OP-059]

Objective: The objective of our study is evaluating the relationship folate/homocysteine metabolism with having a child with Down syndrome (DS) as well as mother, father and the child.

Material and Methods: 48 families who have children with DS (father, mother, child with DS) and as control group 20 families (father, mother, child) who had not experienced miscarriages or abnormal pregnancies and delivered a healthy child, were studied. The mothers were separated into two groups above 35 years of age and under 35 years of age. MTHFR gene C677T and A1298C polymorphisms, Vit-B6 (vitamin B6), Vit-B12 (vitamin B12), folic acid and homocysteine (Hyc) levels were analyzed in these families.

Results: In our study no relationship was found between DS and MTHFR gene polymorphisms, Vit-B12 and Vit-B6 levels in parents. Mothers and fathers with folic acid value less than 8.4 which is although in the reference range, were found more risky in terms of DS in logistic regression analysis and detailed Blogreg analysis (Odds Ratio (OR): 5.405, 3.745, respectively). Hyc levels were found higher in 26.3% of the fathers in mothers with a DS child (DSM) group under 35 years of age and it was statistically significant with DS. However Hyc levels were within normal values in other father groups and higher in all mothers except in DSM over 35 years of age which were less higher and statistically significant. There was no significant difference between children with DS and healthy children in terms of MTHFR gene polymorphisms, T allele frequency and Vit-B6, folic acid, Hyc plasma levels. Vit-B12 values were found higher in 25% of the children with DS and a statistically significant difference was found.

Conclusion: Despite all scanning methods in pregnancy, the majority of pregnancies with DS cannot be identified prenatally. The current idea about the complex relationship between folate/hyc metabolism and DS; the diet and life style of mother with maternal and embryonic combinations which including polymorphisms in genes especially in folate metabolism are associated with survival of fetus with DS. However, the maternal age and paternal transfer makes the role of folate metabolism more complicated in having a baby with DS. According to the results of our study, it seems that along with the future studies fathers will have to take the folic acid support in preconception period as mothers to prevent DS.