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Open Access Research article

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

Huiping Zhu1*, James O Ebot Enaw1, Chen Ma3, Gary M Shaw3, Edward J Lammer4 and Richard H Finnell12

Author Affiliations

1 Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A&M University System Health Science Center, Houston, Texas 77030, USA

2 Center for Environmental and Rural Health, Texas A&M University, College Station, Texas 77843, USA

3 California Birth Defects Monitoring Program, Berkeley, CA, USA

4 Children's Hospital Oakland Research Institute, Oakland, CA, USA

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BMC Medical Genetics 2007, 8:12  doi:10.1186/1471-2350-8-12

Published: 12 March 2007



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.