“…Its epidemiology is poorly understood probably because of its minor global footprint and its localization in the socioeconomically backward pockets of Southeast Asia and Africa (Munoz et al, ; Suphapeetiporn et al, ; Lacasana et al, ; Copp et al, ; Zhang et al, ). Although inadequacies in periconceptional maternal supplementation of folate and iodine have been associated with the disease (Dutta et al, ), the predisposing genetic risk factors remain mostly unknown. In view of the available information and the reportedly higher incidence of AE in Assam (Dutta and Deori, ), we proposed to carry out this hospital based case–control study wherein we focused on the associations between anterior encephalocele and the three folate metabolism related SNPs: MTHFD1 1958G>A, MTHFR 677C>T, and 1298A>C. We focused on establishing gene–gene interactions as it may provide insight into development of the disease.…”