Nichd-Health Research Broad of Ireland Neural Tube Defects Study

Mills, J L.

Abstract

The Epidemiology Branch (DESPR) is conducting a number of studies in collaboration with the Health Research Board and Trinity College, Ireland. These investigations are designed to determine the biochemical mechanisms by which folate reduces the risk for neural tube defects. Data and blood samples have been collected on a large proportion of Irish women delivering babies in Dublin. Samples from women whose pregnancy ended in the delivery of a child with a neural tube defect and control women whose pregnancy ended in the delivery of a normal child are being studied. Various aspects of folate metabolism and other nutritional measures are being examined. Ancillary studies are also being performed to determine whether other micro nutrients are involved in the pathogenesis of neural tube defects and how the risk for having an affected child varies from pregnancy to pregnancy in the same women.

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
• Type: Intramural Research (Z01)
• Project #: 1Z01HD002502-02
• Application #: 3756775
• Support Year: 2
• Fiscal Year: 1994

Institution

• Name: Eunice Kennedy Shriver National Institute of Child Health & Human Development
• Country: United States

Publications

Mills, James L; Carter, Tonia C (2009) Invited commentary: Preventing neural tube defects and more via food fortification? Am J Epidemiol 169:18-21; discussion 22-3

Molloy, Anne M; Brody, Lawrence C; Mills, James L et al. (2009) The search for genetic polymorphisms in the homocysteine/folate pathway that contribute to the etiology of human neural tube defects. Birth Defects Res A Clin Mol Teratol 85:285-94

Pangilinan, Faith; Geiler, Kerry; Dolle, Jessica et al. (2008) Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population. Am J Med Genet A 146A:2617-25

Mills, James L; Molloy, Anne M; Parle-McDermott, Anne et al. (2008) Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate. Birth Defects Res A Clin Mol Teratol 82:636-43

Molloy, Anne M; Kirke, Peadar N; Brody, Lawrence C et al. (2008) Effects of folate and vitamin B12 deficiencies during pregnancy on fetal, infant, and child development. Food Nutr Bull 29:S101-11;discussion S112-5

Parle-McDermott, Anne; Pangilinan, Faith; Mills, James L et al. (2007) The 19-bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR) may decrease rather than increase risk for spina bifida in the Irish population. Am J Med Genet A 143A:1174-80

Parle-McDermott, Anne; Mills, James L; Molloy, Anne M et al. (2006) The MTHFR 1298CC and 677TT genotypes have opposite associations with red cell folate levels. Mol Genet Metab 88:290-4

Parle-McDermott, Anne; Kirke, Peadar N; Mills, James L et al. (2006) Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population. Eur J Hum Genet 14:768-72

O'leary, Valerie B; Pangilinan, Faith; Cox, Christopher et al. (2006) Reduced folate carrier polymorphisms and neural tube defect risk. Mol Genet Metab 87:364-9

Parle-McDermott, Anne; Pangilinan, Faith; Mills, James L et al. (2005) A polymorphism in the MTHFD1 gene increases a mother's risk of having an unexplained second trimester pregnancy loss. Mol Hum Reprod 11:477-80