Title |
Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects
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Published in |
BMC Medical Genomics, August 2012
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DOI | 10.1186/1471-2350-13-62 |
Pubmed ID | |
Authors |
Faith Pangilinan, Anne M Molloy, James L Mills, James F Troendle, Anne Parle-McDermott, Caroline Signore, Valerie B O’Leary, Peter Chines, Jessica M Seay, Kerry Geiler-Samerotte, Adam Mitchell, Julia E VanderMeer, Kristine M Krebs, Angelica Sanchez, Joshua Cornman-Homonoff, Nicole Stone, Mary Conley, Peadar N Kirke, Barry Shane, John M Scott, Lawrence C Brody |
Abstract |
Neural tube defects (NTDs) are common birth defects (~1 in 1000 pregnancies in the US and Europe) that have complex origins, including environmental and genetic factors. A low level of maternal folate is one well-established risk factor, with maternal periconceptional folic acid supplementation reducing the occurrence of NTD pregnancies by 50-70%. Gene variants in the folate metabolic pathway (e.g., MTHFR rs1801133 (677 C > T) and MTHFD1 rs2236225 (R653Q)) have been found to increase NTD risk. We hypothesized that variants in additional folate/B12 pathway genes contribute to NTD risk. |
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Demographic breakdown
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Scientists | 1 | 50% |
Mendeley readers
Geographical breakdown
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India | 1 | 1% |
Unknown | 78 | 96% |
Demographic breakdown
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Researcher | 12 | 15% |
Student > Master | 11 | 14% |
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Other | 12 | 15% |
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