… reductase (MTHFR) gene, and the observation that elevated … has focused on genetic
variation in genes encoding for … the genetics of NTD, in particular genetic variation in genes …

… In summary, this study involves the largest evaluation of common genetic variation for NTD
risk yet reported: 1441 SNPs in 82 candidate genes. While no SNP associations remained …

… ), suggesting that gene-dosage can affect neural tube closure. … mutation screening of candidate
genes has been carried out … of sequence variants in or near candidate genes. Most work …

… We investigated the effects of 5 genetic variants from 47 study populations, for a total of 85
case-control comparisons MTHFR C677T (42 studies; 4374 cases, 7232 controls), MTHFR …

… Although genetic variants have been identified in folate-related genes that increase the risk
… genetic variation identified to date in these genes does not account for the overall genetic …

… gene VANGL1 associated with NTDs. The aim of the present study was to define the role
of VANGL1 genetic variants … We identified five novel missense variants in VANGL1, p.Ser83Leu…

… arrays, next-generation sequencing) that are helping to elucidate the full spectrum of
genetic variation (from common to rare) contributing to complex traits, including structural birth …

… NTDs while accounting for variation in caffeine metabolism … Defects Prevention Study (NBDPS),
this study explored associations between NTDs and maternal and infant gene variants …

… tube defects (NTDs) represent a common group of severe congenital malformations that
result from failure of neural tube … role of folate pathway gene variants and their interaction with …

Background: Low maternal choline intake and blood concentration may be risk factors for
having a child with a neural tube defect (NTD); however, the data are inconsistent. This is an …