ArticleHuman genetics2005
SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects.
Article in Human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
18 citing papers in PubMed, 40 citations in OpenAlex.
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- CyCoNP lncRNA establishes cis and trans RNA-RNA interactions to supervise neuron physiology.Nucleic acids research · 2024Article
- A quest for genetic causes underlying signaling pathways associated with neural tube defects.Frontiers in pediatrics · 2023Review
- Analysis of Genes Associated with Both Neural Tube Defects and Neuroectodermal Tumors.Medical science monitor : international medical journal of experimental and clinical research · 2022Article
- Latrophilin-3 disruption: Effects on brain and behavior.Neuroscience and biobehavioral reviews · 2021Review
- Identification of the Key Regulators of Spina Bifida Through Graph-Theoretical Approach.Frontiers in genetics · 2021Article
- Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes.Neural development · 2020Article
- Relationship between Single Nucleotide Polymorphisms ofInternational journal of molecular and cellular medicine · 2020Article
- Multiple Congenital Anomalies in a Patient with Interstitial 6q26 Deletion.Molecular syndromology · 2020Article
- Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans.Scientifica · 2017Review
- Genetic studies of myelomeningocele.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2013Review
- A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD.Molecular psychiatry · 2012Article
- Strain-specific modifier genes governing craniofacial phenotypes.Birth defects research. Part A, Clinical and molecular teratology · 2012Article
- Epidemiologic and genetic aspects of spina bifida and other neural tube defects.Developmental disabilities research reviews · 2010Review
- Orthopedic management of spina bifida. Part I: hip, knee, and rotational deformities.Journal of children's orthopaedics · 2009Article
- Genetics of human neural tube defects.Human molecular genetics · 2009Review
- Current perspectives on the genetic causes of neural tube defects.Neurogenetics · 2006Review
Corrections and comments
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Authors and funding
16 authors at 6 institutions in 2 countries.
Funding
Abstract
Neural tube defects (NTDs) are common birth defects, occurring in approximately 1/1,000 births; both genetic and environmental factors are implicated. To date, no major genetic risk factors have been identified. Throughout development, cell adhesion molecules are strongly implicated in cell-cell interactions, and may play a role in the formation and closure of the neural tube. To evaluate the role of neural cell adhesion molecule 1 (NCAM1) in risk of human NTDs, we screened for novel single-nucleotide polymorphisms (SNPs) within the gene. Eleven SNPs across NCAM1 were genotyped using TaqMan. We utilized a family-based approach to evaluate evidence for association and/or linkage disequilibrium. We evaluated American Caucasian simplex lumbosacral myelomeningocele families (n=132 families) using the family based association test (FBAT) and the pedigree disequilibrium test (PDT). Association analysis revealed a significant association between risk for NTDs and intronic SNP rs2298526 using both the FBAT test (P=0.0018) and the PDT (P=0.0025). Using the HBAT version of the FBAT to look for haplotype association, all pairwise comparisons with SNP rs2298526 were also significant. A replication study set, consisting of 72 additional families showed no significant association; however, the overall trend for overtransmission of the less common allele of SNP rs2298526 remained significant in the combined sample set. In addition, we analyzed the expression pattern of the NCAM1 protein in human embryos, and while NCAM1 is not expressed within the neural tube at the time of closure, it is expressed in the surrounding and later in differentiated neurons of the CNS. These results suggest variations in NCAM1 may influence risk for human NTDs.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.