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Association between CFL1 gene polymorphisms and spina bifida risk in a California population.

ABSTRACT: CFL1 encodes human non-muscle cofilin (n-cofilin), which is an actin-depolymerizing factor and is essential in cytokinesis, endocytosis, and in the development of all embryonic tissues. Cfl1 knockout mice exhibit failure of neural tube closure at E10.5 and die in utero. We hypothesized that genetic variation within the human CFL1 gene may alter the protein's function and result in defective actin depolymerizing and cellular activity during neural tube closure. Such alterations may be associated with an increased risk for neural tube defects (NTDs).Having re-sequenced the human CFL1 gene and identified five common single nucleotide polymorphisms (SNPs) in our target population, we investigated whether there existed a possible association between the genetic variations of the CFL1 gene and risk of spina bifida. Samples were obtained from a large population-based case-control study in California. Allele association, genotype association and haplotype association were evaluated in two different ethnicity groups, non-Hispanic white and Hispanic white.Homozygosity for the minor alleles of the SNPs studied (rs652021, rs665306, rs667555, rs4621 and rs11227332) appeared to produce an increased risk for spina bifida. Subjects with the haplotype composed of all minor alleles (CCGGT) appeared to have increased spina bifida risk (OR = 1.6, 95% CI: 0.9~2.9), however, this finding is not statistically significant likely due to limited sample size.The sequence variation of human CFL1 gene is a genetic modifier for spina bifida risk in this California population.

SUBMITTER: Zhu H

PROVIDER: S-EPMC1831766 | biostudies-literature | 2007 Mar

REPOSITORIES: biostudies-literature

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Association between CFL1 gene polymorphisms and spina bifida risk in a California population.

Zhu Huiping H Enaw James O Ebot JO Ma Chen C Shaw Gary M GM Lammer Edward J EJ Finnell Richard H RH

BMC medical genetics 20070312

<h4>Background</h4>CFL1 encodes human non-muscle cofilin (n-cofilin), which is an actin-depolymerizing factor and is essential in cytokinesis, endocytosis, and in the development of all embryonic tissues. Cfl1 knockout mice exhibit failure of neural tube closure at E10.5 and die in utero. We hypothesized that genetic variation within the human CFL1 gene may alter the protein's function and result in defective actin depolymerizing and cellular activity during neural tube closure. Such alterations ...[more]

PMID: 17352815

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Project description:ObjectiveThe aim of the study was to identify which neurologic impairment scales correlate with ambulation status in adults with spina bifida.DesignA retrospective chart review was performed on patients seen at the University of Pittsburgh Medical Center Adult Spina Bifida Clinic. Findings were graded using several neurologic impairment scales: two versions of the National Spina Bifida Patient Registry classification, the International Standards for Neurological Classification of Spinal Cord Injury motor level, and the Broughton Neurologic Impairment Scale. Ambulation ability was ranked using the Hoffer classification system.ResultsData collected from 409 patient records showed significant correlations between Hoffer ambulation status and all neurologic impairment scales evaluated. The strongest correlation was noted with the Broughton classification (rs = -0.771, P < 0.001). High correlations were also noted with both versions of the National Spina Bifida Patient Registry: strength 3/5 or greater (rs = -0.763, P < 0.001), and strength 1/5 or greater (rs = -0.716, P < 0.001). For the International Standards for Neurological Classification of Spinal Cord Injury motor level, only a moderate correlation was observed (rs = -0.565, P < 0.001).ConclusionsMultiple grading scales can be used to measure motor function in adult spina bifida patients. Although the Broughton classification seems to be the most highly correlated with ambulation status, the less complex National Spina Bifida Patient Registry scale is also highly correlated and may be easier to administer in busy clinic settings.To claim cme creditsComplete the self-assessment activity and evaluation online at http://www.physiatry.org/JournalCME CME OBJECTIVES: Upon completion of this article, the reader should be able to: (1) Explain the clinical significance of identifying ambulation status and maximizing ambulation potential in adults with spina bifida; (2) Describe each of the neurologic grading scales examined in this study, identifying potential shortcomings in applying them to the adult spina bifida population; and (3) Administer the National Spina Bifida Patient Registry (NSBPR) impairment scale motor assessment in a standard adult spina bifida outpatient clinic visit.LevelAdvanced ACCREDITATION: The Association of Academic Physiatrists is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.The Association of Academic Physiatrists designates this Journal-based CME activity for a maximum of 1.0 AMA PRA Category 1 Credit(s)™. Physicians should only claim credit commensurate with the extent of their participation in the activity.

Dataset Information

Association between CFL1 gene polymorphisms and spina bifida risk in a California population.

Publications

Association between CFL1 gene polymorphisms and spina bifida risk in a California population.

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