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 R. Gilbert; Marcy C. Speer; Joanna Aben; Arthur Aylsworth; Cynthia Powell; Joanne Mackey; Gordon Worley; Timothy Brei; Connie 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

doi:10.1002/bdra.20183

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 R. 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 journal › Article › peer-review

42 Scopus citations

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 language	English (US)
Pages (from-to)	868-875
Number of pages	8
Journal	Birth Defects Research Part A - Clinical and Molecular Teratology
Volume	73
Issue number	11
DOIs	https://doi.org/10.1002/bdra.20183
State	Published - Nov 2005
Externally published	Yes

Keywords

ALDH1A2
CRABP1
CRABP2
CYP26A1
CYP26B1
Neural tube defects
Retinoic acid

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Embryology
Developmental Biology

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10.1002/bdra.20183

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Deak, K. L., Dickerson, M. E., Linney, E., Enterline, D. S., George, T. M., Melvin, E. C., Graham, F. L., Siegel, D. G., Hammock, P., Mehltretter, L., Bassuk, A. G., Kessler, J. A., Gilbert, J. R., Speer, M. C., Aben, J., Aylsworth, A., Powell, C., Mackey, J., Worley, G., ... 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, 73(11), 868-875. https://doi.org/10.1002/bdra.20183

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 et al.
In: Birth Defects Research Part A - Clinical and Molecular Teratology, Vol. 73, No. 11, 11.2005, p. 868-875.

Research output: Contribution to journal › Article › peer-review

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, JR, 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

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

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.",

keywords = "ALDH1A2, CRABP1, CRABP2, CYP26A1, CYP26B1, Neural tube defects, Retinoic acid",

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

year = "2005",

month = nov,

doi = "10.1002/bdra.20183",

language = "English (US)",

volume = "73",

pages = "868--875",

journal = "Birth Defects Research Part A - Clinical and Molecular Teratology",

issn = "1542-0752",

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number = "11",

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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 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.

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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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

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

Abstract

Keywords

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