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Several studies have demonstrated that Slug, which encodes a zinc finger of the Snail family of transcription factors, is a potential risk factor for neural tube defects. Neural tube defects tend to occur with a high rate in Shanxi province, China. The present case-control study investigated genotypic distributions and allele frequencies of Slug C1548A polymorphisms in DNA samples from 59 women with a history of neural tube defect pregnancies and 73 controls during the same period from Shanxi Province, China. Results demonstrated that women with a history of neural tube defect pregnancies had significantly greater genotypic distributions of Slug AA genotypes and A allele frequencies compared with controls, and A allele Slug C1548A was a risk factor for neural tube defects (odds ratio = 3.444; 95% confidence interval: 2.021-5.868, P < 0.05). Three-dimensional structure prediction revealed that Slug C1548A resulted in transition of aspartic acid into glutamate at position 119. This indicated that these mutations could lead to damaged protein structure and function. These findings suggest that Slug C1548A gene polymorphism is closely related to neural tube defects in a population of Han Chinese origin from Shanxi Province, China
Several studies have demonstrated that Slug, which encodes a zinc finger of the Snail family of transcription factors, is a potential risk factor for neural tube defects. control study investigated genotypic distributions and allele frequencies of Slug C1548A polymorphisms in DNA samples from 59 women with a history of neural tube defect pregnancies and 73 controls during the same period from Shanxi Province, China. pregnancies had significantly greater genotypic distributions of Slug AA genotypes and A allele frequencies compared with controls, and A allele Slug C1548A was a risk factor for neural tube defects (odds ratio = 3.444; 95% confidence interval: 2.021-5.868, P <0.05) Three-dimensional structure prediction revealed that Slug C1548A resulted in transition of aspartic acid into glutamate at position 119. This indic ated that these mutations could lead to damaged protein structure and function. These findings suggest that Slug C1548A gene polymorphism is closely related to neural tube defects in a population of Han Chinese origin from Shanxi Province, China