Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects

F Pangilinan, AM Molloy, JL Mills, JF Troendle… - BMC medical …, 2012 - Springer
Abstract Background 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 variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature

T Zhang, J Lou, R Zhong, J Wu, L Zou, Y Sun, X Lu… - PLos one, 2013 - journals.plos.org
Background Neural Tube Defects (NTDs) are among the most prevalent and most severe
congenital malformations worldwide. Polymorphisms in key genes involving the folate …

[PDF][PDF] Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects

K Doudney, J Grinham, J Whittaker… - American Journal of …, 2009 - theshinelibrary.org
Neural tube defects (NTDs) are among the commonest human birth defects, affecting around
1 per 1,000 births [Copp et al., 2003]. A genetic basis for NTDs is implicated based on the …

The search for genetic polymorphisms in the homocysteine/folate pathway that contribute to the etiology of human neural tube defects

AM Molloy, LC Brody, JL Mills… - … Research Part A …, 2009 - Wiley Online Library
In this paper, we trace the history of current research into the genetic and biochemical
mechanisms that underlie folate‐preventable neural tube defects (NTDs). The inspired …

Gene–gene interaction in folate-related genes and risk of neural tube defects in a UK population

CL Relton, CS Wilding, MS Pearce… - Journal of medical …, 2004 - jmg.bmj.com
Objective: To investigate the contribution of polymorphic variation in genes involved in the
folate-dependent homocysteine pathway in the aetiology of neural tube defects (NTD) …

Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population

A Parle-McDermott, PN Kirke, JL Mills… - European Journal of …, 2006 - nature.com
The risk of neural tube defects (NTDs) is known to have a significant genetic component that
could act through either the NTD patient and/or maternal genotype. The success of folic acid …

Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10

E Rampersaud, AG Bassuk, DS Enterline… - Journal of medical …, 2005 - jmg.bmj.com
Neural tube defects (NTDs) are the second most common birth defects (1 in 1000 live births)
in the world. Periconceptional maternal folate supplementation reduces NTD risk by 50 …

Exploring gene—gene interactions in the etiology of neural tube defects

LD Botto, P Mastroiacovo - Clinical genetics, 1998 - Wiley Online Library
The role of susceptibility genes in the etiology of birth defects is unclear, but may involve in
some cases multiple alleles at multiple loci. We suggest a simple epidemiologic approach to …

Association of neural tube defects with maternal alterations and genetic polymorphisms in one-carbon metabolic pathway

CQ Cai, YL Fang, JB Shu, LS Zhao, RP Zhang… - Italian Journal of …, 2019 - Springer
Abstract Background Neural tube defects (NTDs) are birth defects of the brain, spine, or
spinal cord invoked by the insufficient intake of folic acid in the early stages of pregnancy …

Polymorphisms in folate metabolism genes as maternal risk factor for neural tube defects: an updated meta-analysis

U Yadav, P Kumar, SK Yadav, OP Mishra, V Rai - Metabolic brain disease, 2015 - Springer
Epidemiological studies have evaluated the association between maternal
methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C and methionine synthase …