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Epidemiologic and Genetic Aspects of Spina Bifida and Other Neural Tube Defects

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Title: Epidemiologic and Genetic Aspects of Spina Bifida and Other Neural Tube Defects
Language: English
Authors: Au, Kit Sing, Ashley-Koch, Allison, Northrup, Hope
Source: Developmental Disabilities Research Reviews. 2010 16(1):6-15.
Availability: Wiley-Blackwell. 111 River Street, Hoboken, NJ 07030-5774. Tel: 800-825-7550; Tel: 201-748-6645; Fax: 201-748-6021; e-mail: subinfo@wiley.com; Web site: http://www3.interscience.wiley.com/browse/?type=JOURNAL
Peer Reviewed: Y
Physical Description: PDF
Page Count: 10
Publication Date: 2010
Document Type: Journal Articles
Reports - Research
Descriptors: Prenatal Influences, Drug Use, Nutrition, Metabolism, Congenital Impairments, Pregnancy, Genetics, Etiology, Prevention, Epidemiology, Disabilities, Neurological Impairments, Risk, Age Differences, Racial Differences, Parents, Socioeconomic Status, Employment Level
DOI: 10.1002/ddrr.93
ISSN: 1940-5510
Abstract: The worldwide incidence of neural tube defects (NTDs) ranges from 1.0 to 10.0 per 1,000 births with almost equal frequencies between two major categories: anencephaly and spina bifida (SB). Epidemiological studies have provided valuable insight for (a) researchers to identify nongenetic and genetic factors contributing to etiology, (b) public health officials to design and implement policies to prevent NTD pregnancies, and (c) individuals to take precautions to reduce the chance of having an NTD-affected pregnancy. Despite extensive research, our knowledge of the genetic etiology of human NTDs is limited. Although more than 200 small animal models with NTDs exist, most of these models do not replicate the human disease phenotype. Over a hundred candidate genes have been examined for risk association to human SB. The candidate genes studied include those important in folic acid metabolism, glucose metabolism, retinoid metabolism, and apoptosis. Many genes that regulate transcription in early embryogenesis and maintain planar cell polarity have also been tested as candidates. Additionally, genes identified through mouse models of NTDs have been explored as candidates. We do not know how many genes in the human genome may confer risk for NTDs in human. Less than 20% of the studied candidate genes have been determined to confer even a minor effect on risk association. Many studies have provided conflicting conclusions due to limitations in study design that potentially affect the power of statistical analysis. Future directions such as genomewide association studies (GWAS) and whole exome or even whole genome sequencing are discussed as possible avenues to identify genes that affect risk for human NTDs. (Contains 1 table.)
Abstractor: As Provided
Number of References: 80
Entry Date: 2010
Accession Number: EJ889575
Database: ERIC
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  Data: Epidemiologic and Genetic Aspects of Spina Bifida and Other Neural Tube Defects
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  Data: <searchLink fieldCode="SO" term="%22Developmental+Disabilities+Research+Reviews%22"><i>Developmental Disabilities Research Reviews</i></searchLink>. 2010 16(1):6-15.
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  Data: Wiley-Blackwell. 111 River Street, Hoboken, NJ 07030-5774. Tel: 800-825-7550; Tel: 201-748-6645; Fax: 201-748-6021; e-mail: subinfo@wiley.com; Web site: http://www3.interscience.wiley.com/browse/?type=JOURNAL
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  Data: 10.1002/ddrr.93
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– Name: Abstract
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  Data: The worldwide incidence of neural tube defects (NTDs) ranges from 1.0 to 10.0 per 1,000 births with almost equal frequencies between two major categories: anencephaly and spina bifida (SB). Epidemiological studies have provided valuable insight for (a) researchers to identify nongenetic and genetic factors contributing to etiology, (b) public health officials to design and implement policies to prevent NTD pregnancies, and (c) individuals to take precautions to reduce the chance of having an NTD-affected pregnancy. Despite extensive research, our knowledge of the genetic etiology of human NTDs is limited. Although more than 200 small animal models with NTDs exist, most of these models do not replicate the human disease phenotype. Over a hundred candidate genes have been examined for risk association to human SB. The candidate genes studied include those important in folic acid metabolism, glucose metabolism, retinoid metabolism, and apoptosis. Many genes that regulate transcription in early embryogenesis and maintain planar cell polarity have also been tested as candidates. Additionally, genes identified through mouse models of NTDs have been explored as candidates. We do not know how many genes in the human genome may confer risk for NTDs in human. Less than 20% of the studied candidate genes have been determined to confer even a minor effect on risk association. Many studies have provided conflicting conclusions due to limitations in study design that potentially affect the power of statistical analysis. Future directions such as genomewide association studies (GWAS) and whole exome or even whole genome sequencing are discussed as possible avenues to identify genes that affect risk for human NTDs. (Contains 1 table.)
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      – SubjectFull: Prenatal Influences
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      – TitleFull: Epidemiologic and Genetic Aspects of Spina Bifida and Other Neural Tube Defects
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