Environmental and Genetic Causes of Birth Defects

Wilcox, Allen J.

Abstract

of Work: We are carrying out a large six-year population-based case-control study of facial clefts in Norway, incorporating molecular genetic tools and in-depth questionnaires to examine the separate and combined roles of genetics and environment. The incidence of facial clefts in Norway is one of the highest in the world. We plan to enroll 600 babies with facial clefts and 1100 random live births from the general population. Cases are enrolled within two months of birth. Blood samples are collected from the cases and their biological parents, and cheek swabs are collected from the controls and their parents. In preparation for the analysis of these data, we have developed new statistical methods for detecting gene effects within families of affected persons that have distinct advantages over previous approaches. This method can be useful for the study of diseases besides birth defects. - facial cleft, cleft lip, cleft palate, gene-environment interaction - Human Subjects

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: National Institute of Environmental Health Sciences (NIEHS)
• Type: Intramural Research (Z01)
• Project #: 1Z01ES049027-03
• Application #: 6289992
• Study Section: Epidemiology and Biometry Training Committee (EB)
• Support Year: 3
• Fiscal Year: 1999

Institution

• Name: National Institute of Environmental Health Sciences
• Country: United States

Publications

Skuladottir, Hildur; Wilcox, Allen; McConnaughey, Robert et al. (2014) First-trimester nonsystemic corticosteroid use and the risk of oral clefts in Norway. Ann Epidemiol 24:635-40

Johansen, Anne Marte W; Wilcox, Allen J; Lie, Rolv T et al. (2009) Maternal consumption of coffee and caffeine-containing beverages and oral clefts: a population-based case-control study in Norway. Am J Epidemiol 169:1216-22

Nguyen, Ruby H N; Wilcox, Allen J; Moen, Bente E et al. (2007) Parent's occupation and isolated orofacial clefts in Norway: a population-based case-control study. Ann Epidemiol 17:763-71

Harville, Emily W; Wilcox, Allen J; Lie, Rolv Terje et al. (2007) Epidemiology of cleft palate alone and cleft palate with accompanying defects. Eur J Epidemiol 22:389-95

Sivertsen, Ase; Lie, Rolv Terje; Wilcox, Allen J et al. (2007) Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate. Am J Med Genet A 143:129-34

Wilcox, Allen J; Lie, Rolv Terje; Solvoll, Kari et al. (2007) Folic acid supplements and risk of facial clefts: national population based case-control study. BMJ 334:464

Harville, Emily W; Wilcox, Allen J; Lie, Rolv Terje et al. (2005) Cleft lip and palate versus cleft lip only: are they distinct defects? Am J Epidemiol 162:448-53

Jugessur, Astanand; Wilcox, Allen J; Lie, Rolv T et al. (2003) Exploring the effects of methylenetetrahydrofolate reductase gene variants C677T and A1298C on the risk of orofacial clefts in 261 Norwegian case-parent triads. Am J Epidemiol 157:1083-91

Jugessur, Astanand; Lie, Rolv T; Wilcox, Allen J et al. (2003) Cleft palate, transforming growth factor alpha gene variants, and maternal exposures: assessing gene-environment interactions in case-parent triads. Genet Epidemiol 25:367-74

Jugessur, Astanand; Lie, Rolv T; Wilcox, Allen J et al. (2003) Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts: a case-parent triad analysis. Genet Epidemiol 24:230-9