TY - JOUR AU - Dutta, Hemonta K.; Borbora, Debasish; Baruah, Mauchumi; Narain, Kanwar TI - Anterior Encephalocele and Its Association with MTHFR Polymorphisms: A Case-Control Study SN - 2277-954X SN - 2277-9167 PY - 2017 JF - Indian Journal of Neurosurgery LA - EN VL - 06 IS - 03 SP - 184 EP - 188 ET - 2017/10/13 DA - 2017/12/29 KW - anterior encephaloceles KW - neural tube defects KW - polymorphism AB - Background Neural tube defects (NTDs) are thought to be associated with genetic defects and environmental factors. This study aims to determine the association of MTHFR gene polymorphisms and maternal body mass index (BMI) with anterior encephalocele (AE).Methods Blood samples of 20 patients (out of 41 children) were available for genetic analysis. Genomic DNA was extracted from whole blood samples using Wizard genomic DNA purification kit. The MTHFR C677T and A1298C polymorphisms genotyping protocols were adapted from Cicek et al. Eighty-two age- (1–14 years) and sex-matched apparently healthy children were taken as controls. We assessed the nutritional status of all the volunteers by measuring their BMI and then classified according to WHO BMI cutoff points.Results Nasofrontal AE was seen mostly among the female cases while among males, nasoethmoidal AE was predominant. We observed a weak association between MTHFR 677CT genotype and AE. In the case of MTHFR A1298C, both the 1298AC and 1298CC genotypes increased the risk of acquiring AE by several folds. Multivariate analysis revealed that both 1298AC and 1298CC genotypes increased the risk of acquiring AE. However, only 1298AC was significantly associated with the risk of AE. The study also showed significantly low BMI among the children and their mothers.Conclusion There is a strong association between MTHFR A1298C polymorphism and the risk of anterior encephalocele in this community. The C677T polymorphism, however, did not constitute a genetic risk factor in this study. Children with AE also had significantly low BMI. PB - Thieme Medical and Scientific Publishers Private Ltd. DO - 10.1055/s-0037-1606821 UR - http://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-0037-1606821 ER -