| Screening for novel PAX3 polymorphisms and risks of spina bifida. | |
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MedLine Citation:
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PMID: 17149730 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: PAX3 plays an important role in mammalian embryonic development. Known mutations in PAX3 are etiologically associated with Waardenburg syndrome and syndromic neural tube defects (NTDs). Mutations in the murine homologue, pax3, are responsible for the phenotype of splotch mice, in which nullizygotes are 100% penetrant for NTDs. METHODS: The study sample included 74 infants with spina bifida (cases) and 87 nonmalformed infant controls. The conserved paired-box domain as well as the upstream genomic region of PAX3 were subjected to resequencing and those identified SNPs were evaluated as haplotypes. The associations of haplotypes for selected gene regions and the risks of spina bifida were further studied. RESULTS: Nineteen SNPs were observed; 15 observed in controls had been submitted to the National Center for Biotechnology Information (NCBI) database with allele frequencies. The PAX3 gene variant T-1186C (rs16863657) and its related haplotype, TCTCCGCCC of nine SNPs, were found to be associated with an increased risk of spina bifida, with an OR of 3.5 (95% CI: 1.2-10.0) among Hispanic Whites. CONCLUSIONS: Our analyses indicated that PAX3 SNPs were not strong risk factors for human spina bifida. However, additional follow-up of the PAX3 gene variant T-1186C (rs16863657) and its related haplotype, TCTCCGCCC, may be important in other populations. |
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Authors:
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Wei Lu; Huiping Zhu; Shu Wen; Cecile Laurent; Gary M Shaw; Edward J Lammer; Richard H Finnell |
Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Birth defects research. Part A, Clinical and molecular teratology Volume: 79 ISSN: 1542-0752 ISO Abbreviation: Birth Defects Res. Part A Clin. Mol. Teratol. Publication Date: 2007 Jan |
Date Detail:
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Created Date: 2007-01-10 Completed Date: 2007-04-09 Revised Date: 2011-06-14 |
Medline Journal Info:
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Nlm Unique ID: 101155107 Medline TA: Birth Defects Res A Clin Mol Teratol Country: United States |
Other Details:
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Languages: eng Pagination: 45-9 Citation Subset: IM |
Copyright Information:
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Copyright (c) 2006 Wiley-Liss, Inc. |
Affiliation:
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Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A&M University System Health Science Center, Houston, Texas 77030, and Children's Hospital Oakland Research Institute, CA, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Case-Control Studies Genotype Haplotypes Humans Infant Models, Genetic Paired Box Transcription Factors / genetics* Polymorphism, Single Nucleotide* Risk Factors Sequence Analysis, DNA Spinal Dysraphism / diagnosis, genetics* |
| Grant Support | |
ID/Acronym/Agency:
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R01 NS050249/NS/NINDS NIH HHS; R01 NS050249-06/NS/NINDS NIH HHS; U50/CCU913241//PHS HHS |
| Chemical | |
Reg. No./Substance:
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0/PAX3 protein, human; 0/Paired Box Transcription Factors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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