Association of MTHFR 677ct, 1298ac Polymorphisms and Folic Acid With Spina Bifida in Pakistani Population

Spina Bifida (SB) is a neural tube defect that is commonly increasing substantial with genetic component. Complex pattern and various genetic polymorphisms may affect genetic predisposition of the disease that is mostly characterized by folic acid deficiency. Between diverse ethnic populations, the genetic architecture of SB may vary, so it is crucial that such variants are examined in Pakistani population. The present study was specifically targeted to find out the association of blood folate level and methylenetetrahydrofolate (MTHFR) gene polymorphisms with SB in Pakistan. In present study significant p value 0.001 showed the association of blood folate level and SB. Differences of genotypes among MTHFR 1298A→C highly significant between normal groups and SB X2=13.273(0.001). While 677C→T found to be non-associated X2= 0.327 (0.827) with SB in population. To conclude, low blood folate level of parents and MTHFR gene polymorphisms 1298A→C can be a cause of inception and progression of SB in local population of Pakistan but relationship between MTHFR genetic polymorphisms to diverse SB complications is yet not obvious and warrants further studies of functional genomics to validate the SB onset and progression with genetic susceptibility of MTHFR gene.