TY - JOUR
T1 - Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2
AU - Deak, Kristen L.
AU - Dickerson, Margaret E.
AU - Linney, Elwood
AU - Enterline, David S.
AU - George, Timothy M.
AU - Melvin, Elizabeth C.
AU - Graham, Felicia L.
AU - Siegel, Deborah G.
AU - Hammock, Preston
AU - Mehltretter, Lorraine
AU - Bassuk, Alexander G.
AU - Kessler, John A.
AU - Gilbert, John R.
AU - Speer, Marcy C.
AU - Aben, Joanna
AU - Aylsworth, Arthur
AU - Powell, Cynthia
AU - Mackey, Joanne
AU - Worley, Gordon
AU - Brei, Timothy
AU - Buran, Connie
AU - Bodurtha, Joann
AU - Sawin, Kathleen
AU - Dias, Mark S.
AU - Mack, Philip
AU - Meeropol, Elli
AU - Lasarsky, Nicole
AU - McLone, David
AU - Ito, Joy
AU - Oakes, W. Jerry
AU - Walker, Marion
AU - Peterson, Paxila
AU - Iskandar, Bermans
PY - 2005/11
Y1 - 2005/11
N2 - BACKGROUND: Vitamin A (retinol), in the form of retinoic acid (RA), is essential for normal development of the human embryo. Studies in the mouse and zebrafish have shown that retinol is metabolized in the developing spinal cord and must be maintained in a precise balance along the anteroposterior axis. Both excess and deficiency of RA can affect morphogenesis, including failures of neural tube closure. METHODS: We chose to investigate 5 genes involved in the metabolism or synthesis of RA, ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP1, for their role in the development of human neural tube defects, such as spina bifida. RESULTS: An association analysis using both allelic and genotypic single-locus tests revealed a significant association between the risk for spina bifida and 3 polymorphisms in the gene ALDH1A2; however, we found no evidence of a significant multilocus association. CONCLUSIONS: These results may suggest that polymorphisms in ALDH1A2 may influence the risk for lumbosacral myelomeningocele in humans.
AB - BACKGROUND: Vitamin A (retinol), in the form of retinoic acid (RA), is essential for normal development of the human embryo. Studies in the mouse and zebrafish have shown that retinol is metabolized in the developing spinal cord and must be maintained in a precise balance along the anteroposterior axis. Both excess and deficiency of RA can affect morphogenesis, including failures of neural tube closure. METHODS: We chose to investigate 5 genes involved in the metabolism or synthesis of RA, ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP1, for their role in the development of human neural tube defects, such as spina bifida. RESULTS: An association analysis using both allelic and genotypic single-locus tests revealed a significant association between the risk for spina bifida and 3 polymorphisms in the gene ALDH1A2; however, we found no evidence of a significant multilocus association. CONCLUSIONS: These results may suggest that polymorphisms in ALDH1A2 may influence the risk for lumbosacral myelomeningocele in humans.
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U2 - 10.1002/bdra.20183
DO - 10.1002/bdra.20183
M3 - Article
C2 - 16237707
AN - SCOPUS:28444435486
SN - 1542-0752
VL - 73
SP - 868
EP - 875
JO - Birth Defects Research Part A - Clinical and Molecular Teratology
JF - Birth Defects Research Part A - Clinical and Molecular Teratology
IS - 11
ER -