Anterior Encephalocele and Its Association with MTHFR Polymorphisms: A Case-Control Study
Abstract 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 ...
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Thieme Medical and Scientific Publishers Pvt. Ltd.
2017-10-01
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| Series: | Indian Journal of Neurosurgery |
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| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0037-1606821 |
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| author | Hemonta K. Dutta Debasish Borbora Mauchumi Baruah Kanwar Narain |
| author_facet | Hemonta K. Dutta Debasish Borbora Mauchumi Baruah Kanwar Narain |
| author_sort | Hemonta K. Dutta |
| collection | DOAJ |
| description | Abstract
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. |
| format | Article |
| id | doaj-art-b20a46c29ae84a3aa0c499555fbe7bd9 |
| institution | OA Journals |
| issn | 2277-954X 2277-9167 |
| language | English |
| publishDate | 2017-10-01 |
| publisher | Thieme Medical and Scientific Publishers Pvt. Ltd. |
| record_format | Article |
| series | Indian Journal of Neurosurgery |
| spelling | doaj-art-b20a46c29ae84a3aa0c499555fbe7bd92025-08-20T02:00:27ZengThieme Medical and Scientific Publishers Pvt. Ltd.Indian Journal of Neurosurgery2277-954X2277-91672017-10-01060318418810.1055/s-0037-1606821Anterior Encephalocele and Its Association with MTHFR Polymorphisms: A Case-Control StudyHemonta K. Dutta0Debasish Borbora1Mauchumi Baruah2Kanwar Narain3Department of Pediatric Surgery, Assam Medical College & Hospital, Dibrugarh, Assam, IndiaDepartment of Biotechnology, Gauhati University, Guwahati, Assam, IndiaDepartment of Physiology, Assam Medical College, Dibrugarh, Assam, IndiaRegional Medical Research Laboratory, ICMR, Lahowal, Dibrugarh, Assam, IndiaAbstract 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.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0037-1606821anterior encephalocelesneural tube defectspolymorphism |
| spellingShingle | Hemonta K. Dutta Debasish Borbora Mauchumi Baruah Kanwar Narain Anterior Encephalocele and Its Association with MTHFR Polymorphisms: A Case-Control Study Indian Journal of Neurosurgery anterior encephaloceles neural tube defects polymorphism |
| title | Anterior Encephalocele and Its Association with MTHFR Polymorphisms: A Case-Control Study |
| title_full | Anterior Encephalocele and Its Association with MTHFR Polymorphisms: A Case-Control Study |
| title_fullStr | Anterior Encephalocele and Its Association with MTHFR Polymorphisms: A Case-Control Study |
| title_full_unstemmed | Anterior Encephalocele and Its Association with MTHFR Polymorphisms: A Case-Control Study |
| title_short | Anterior Encephalocele and Its Association with MTHFR Polymorphisms: A Case-Control Study |
| title_sort | anterior encephalocele and its association with mthfr polymorphisms a case control study |
| topic | anterior encephaloceles neural tube defects polymorphism |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0037-1606821 |
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