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Article Open Access

Association analysis of polymorphisms of the CRHR1 gene with infantile spasms

  • Authors:
    • Guang Yang
    • Li-Ping Zou
    • Jing Wang
    • Xiu-Yu Shi
    • Xiao-Fan Yang
    • Bin Wang
    • Yu-Jie Liu
    • Yan-Hong Sun
    • Fei-Yong Jia
  • View Affiliations / Copyright

    Affiliations: Department of Pediatrics, Chinese PLA General Hospital, Beijing 100853, P.R. China, Department of Pediatrics, Cangzhou Central Hospital, Cangzhou, Hebei 061001, P.R. China, Department of Pediatrics, First Hospital of Jilin University, Changchun, Jilin 130021, P.R. China
    Copyright: © Yang et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].
  • Pages: 2539-2546
    |
    Published online on: May 7, 2015
       https://doi.org/10.3892/mmr.2015.3751
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Abstract

While >200 types of etiologies have been shown to be involved in the pathogenesis of infantile spasms, the pathophysiology of infantile spasms remains largely elusive. Pre-natal stress and hypothalamic-pituitary-adrenal axis dysfunction were shown to be involved in the development of infantile spasms. To test the genetic association between the CRHR1 gene, which encodes the corticotrophin-releasing hormone (CRH) receptor, and infantile spasms, five single nucleotide polymorphisms (SNPs) in the CRHR1 gene were genotyped in a sample set of 128 cases with infantile spasms and 131 healthy controls. Correlation analysis was performed on the genotyped data. Under the assumption of the dominant model, the selected five SNPs, rs4458044, rs171440, rs17689966, rs28364026 and rs242948, showed no association with the risk of infantile spasms and the effectiveness of adrenocorticotropic hormone treatment. In addition, subsequent haplotype analysis suggested none of them was associated with infantile spasms. In conclusion, the experimental results of the present study suggested no association between the CRHR1 gene and infantile spasms in a Chinese population.
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Copy and paste a formatted citation
Spandidos Publications style
Yang G, Zou L, Wang J, Shi X, Yang X, Wang B, Liu Y, Sun Y and Jia F: Association analysis of polymorphisms of the CRHR1 gene with infantile spasms. Mol Med Rep 12: 2539-2546, 2015.
APA
Yang, G., Zou, L., Wang, J., Shi, X., Yang, X., Wang, B. ... Jia, F. (2015). Association analysis of polymorphisms of the CRHR1 gene with infantile spasms. Molecular Medicine Reports, 12, 2539-2546. https://doi.org/10.3892/mmr.2015.3751
MLA
Yang, G., Zou, L., Wang, J., Shi, X., Yang, X., Wang, B., Liu, Y., Sun, Y., Jia, F."Association analysis of polymorphisms of the CRHR1 gene with infantile spasms". Molecular Medicine Reports 12.2 (2015): 2539-2546.
Chicago
Yang, G., Zou, L., Wang, J., Shi, X., Yang, X., Wang, B., Liu, Y., Sun, Y., Jia, F."Association analysis of polymorphisms of the CRHR1 gene with infantile spasms". Molecular Medicine Reports 12, no. 2 (2015): 2539-2546. https://doi.org/10.3892/mmr.2015.3751
Copy and paste a formatted citation
x
Spandidos Publications style
Yang G, Zou L, Wang J, Shi X, Yang X, Wang B, Liu Y, Sun Y and Jia F: Association analysis of polymorphisms of the CRHR1 gene with infantile spasms. Mol Med Rep 12: 2539-2546, 2015.
APA
Yang, G., Zou, L., Wang, J., Shi, X., Yang, X., Wang, B. ... Jia, F. (2015). Association analysis of polymorphisms of the CRHR1 gene with infantile spasms. Molecular Medicine Reports, 12, 2539-2546. https://doi.org/10.3892/mmr.2015.3751
MLA
Yang, G., Zou, L., Wang, J., Shi, X., Yang, X., Wang, B., Liu, Y., Sun, Y., Jia, F."Association analysis of polymorphisms of the CRHR1 gene with infantile spasms". Molecular Medicine Reports 12.2 (2015): 2539-2546.
Chicago
Yang, G., Zou, L., Wang, J., Shi, X., Yang, X., Wang, B., Liu, Y., Sun, Y., Jia, F."Association analysis of polymorphisms of the CRHR1 gene with infantile spasms". Molecular Medicine Reports 12, no. 2 (2015): 2539-2546. https://doi.org/10.3892/mmr.2015.3751
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