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

doi:10.1002/bdra.20183

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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

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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

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, …

Birth defects research. A Clinical and molecular teratology, Vol.73(11), pp.868-875

11/2005

DOI: 10.1002/bdra.20183

PMID: 16237707

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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 CRABP2, 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. Birth Defects Research (Part A), 2005. © 2005 Wiley‐Liss, Inc.

CYP26A1

CYP26B1

retinoic acid

CRABP2

ALDH1A2

CRABP1

neural tube defects

Details

Title: Subtitle: Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2
Creators: 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
Resource Type: Journal article
Publication Details: Birth defects research. A Clinical and molecular teratology, Vol.73(11), pp.868-875
DOI: 10.1002/bdra.20183
PMID: 16237707
NLM abbreviation: Birth Defects Res A Clin Mol Teratol
ISSN: 1542-0752
eISSN: 1542-0760
Publisher: Wiley; Hoboken
Number of pages: 8
Grant note: National Institutes of Health (NIH) (ES11375; NS39818; ES11961)
Language: English
Date published: 11/2005
Academic Unit: Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
Record Identifier: 9984020634102771

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