Detection of copy number variants reveals association of cilia genes with neural tube defects

Neural tube defects (NTDs) are one of the most common birth defects caused by a combination of genetic and environmental factors. Currently, little is known about the genetic basis of NTDs although up to 70% of human NTDs were reported to be attributed to genetic factors. Here we performed genome-wi...

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Bibliographic Details
Published in:PloS one 2013-01, Vol.8 (1), p.e54492-e54492
Main Authors: Chen, Xiaoli, Shen, Yiping, Gao, Yonghui, Zhao, Huizhi, Sheng, Xiaoming, Zou, Jizhen, Lip, Va, Xie, Hua, Guo, Jin, Shao, Hong, Bao, Yihua, Shen, Jianliang, Niu, Bo, Gusella, James F, Wu, Bai-Lin, Zhang, Ting
Format: Article
Language:English
Subjects:
Asian Continental Ancestry Group
Biology
Birth defects
Cell division
Children & youth
Cilia
Cilia - genetics
Cilia - physiology
Congenital defects
Copy number
Deoxyribonucleic acid
DNA
DNA Copy Number Variations - genetics
Environmental factors
Female
Genes
Genetic aspects
Genetic Association Studies
Genetic factors
Genetic research
Genome, Human
Genomes
Genomics
Genotype
Hospitals
Humans
Kinases
Laboratories
Male
Medicine
Morphogenesis
Neural tube defects
Neural Tube Defects - genetics
Neural Tube Defects - pathology
Pathogenesis
Patients
Pediatrics
Population
Pregnancy
Protein kinase A
Proteins
Science
Signal transduction
Signaling
Studies
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Summary:Neural tube defects (NTDs) are one of the most common birth defects caused by a combination of genetic and environmental factors. Currently, little is known about the genetic basis of NTDs although up to 70% of human NTDs were reported to be attributed to genetic factors. Here we performed genome-wide copy number variants (CNVs) detection in a cohort of Chinese NTD patients in order to exam the potential role of CNVs in the pathogenesis of NTDs. The genomic DNA from eighty-five NTD cases and seventy-five matched normal controls were subjected for whole genome CNVs analysis. Non-DGV (the Database of Genomic Variants) CNVs from each group were further analyzed for their associations with NTDs. Gene content in non-DGV CNVs as well as participating pathways were examined. Fifty-five and twenty-six non-DGV CNVs were detected in cases and controls respectively. Among them, forty and nineteen CNVs involve genes (genic CNV). Significantly more non-DGV CNVs and non-DGV genic CNVs were detected in NTD patients than in control (41.2% vs. 25.3%, p
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0054492