Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2

Kristen L. Deak, Margaret E. Dickerson, Elwood Linney, David S. Enterline, Timothy M. George, Elizabeth C. Melvin, Felicia L. Graham, Deborah G. Siegel, Preston Hammock, Lorraine Mehltretter, Alexander G. Bassuk, John A. Kessler, John Gilbert, Marcy C. Speer, Joanna Aben, Arthur Aylsworth, Cynthia Powell, Joanne Mackey, Gordon Worley, Timothy BreiConnie Buran, Joann Bodurtha, Kathleen Sawin, Mark S. Dias, Philip Mack, Elli Meeropol, Nicole Lasarsky, David McLone, Joy Ito, W. Jerry Oakes, Marion Walker, Paxila Peterson, Bermans Iskandar

Research output: Contribution to journalArticle

38 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)868-875
Number of pages8
JournalBirth Defects Research Part A - Clinical and Molecular Teratology
Volume73
Issue number11
DOIs
StatePublished - Nov 1 2005
Externally publishedYes

Fingerprint

Neural Tube Defects
Tretinoin
Vitamin A
Spinal Dysraphism
Alleles
Human Development
Meningomyelocele
Neural Tube
Zebrafish
Morphogenesis
Genes
Embryonic Development
Spinal Cord
Retinoic Acid 4-Hydroxylase

Keywords

  • ALDH1A2
  • CRABP1
  • CRABP2
  • CYP26A1
  • CYP26B1
  • Neural tube defects
  • Retinoic acid

ASJC Scopus subject areas

  • Developmental Biology

Cite this

Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2. / Deak, Kristen L.; Dickerson, Margaret E.; Linney, Elwood; Enterline, David S.; George, Timothy M.; Melvin, Elizabeth C.; Graham, Felicia L.; Siegel, Deborah G.; Hammock, Preston; Mehltretter, Lorraine; Bassuk, Alexander G.; Kessler, John A.; Gilbert, John; Speer, Marcy C.; Aben, Joanna; Aylsworth, Arthur; Powell, Cynthia; Mackey, Joanne; Worley, Gordon; Brei, Timothy; Buran, Connie; Bodurtha, Joann; Sawin, Kathleen; Dias, Mark S.; Mack, Philip; Meeropol, Elli; Lasarsky, Nicole; McLone, David; Ito, Joy; Oakes, W. Jerry; Walker, Marion; Peterson, Paxila; Iskandar, Bermans.

In: Birth Defects Research Part A - Clinical and Molecular Teratology, Vol. 73, No. 11, 01.11.2005, p. 868-875.

Research output: Contribution to journalArticle

Deak, KL, Dickerson, ME, Linney, E, Enterline, DS, George, TM, Melvin, EC, Graham, FL, Siegel, DG, Hammock, P, Mehltretter, L, Bassuk, AG, Kessler, JA, Gilbert, J, Speer, MC, Aben, J, Aylsworth, A, Powell, C, Mackey, J, Worley, G, Brei, T, Buran, C, Bodurtha, J, Sawin, K, Dias, MS, Mack, P, Meeropol, E, Lasarsky, N, McLone, D, Ito, J, Oakes, WJ, Walker, M, Peterson, P & Iskandar, B 2005, 'Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2', Birth Defects Research Part A - Clinical and Molecular Teratology, vol. 73, no. 11, pp. 868-875. https://doi.org/10.1002/bdra.20183
Deak, Kristen L. ; Dickerson, Margaret E. ; Linney, Elwood ; Enterline, David S. ; George, Timothy M. ; Melvin, Elizabeth C. ; Graham, Felicia L. ; Siegel, Deborah G. ; Hammock, Preston ; Mehltretter, Lorraine ; Bassuk, Alexander G. ; Kessler, John A. ; Gilbert, John ; Speer, Marcy C. ; Aben, Joanna ; Aylsworth, Arthur ; Powell, Cynthia ; Mackey, Joanne ; Worley, Gordon ; Brei, Timothy ; Buran, Connie ; Bodurtha, Joann ; Sawin, Kathleen ; Dias, Mark S. ; Mack, Philip ; Meeropol, Elli ; Lasarsky, Nicole ; McLone, David ; Ito, Joy ; Oakes, W. Jerry ; Walker, Marion ; Peterson, Paxila ; Iskandar, Bermans. / Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2. In: Birth Defects Research Part A - Clinical and Molecular Teratology. 2005 ; Vol. 73, No. 11. pp. 868-875.
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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

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 - 2005/11/1

Y1 - 2005/11/1

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.

KW - ALDH1A2

KW - CRABP1

KW - CRABP2

KW - CYP26A1

KW - CYP26B1

KW - Neural tube defects

KW - Retinoic acid

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DO - 10.1002/bdra.20183

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