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Association of CD40 Gene Polymorphisms with Susceptibility to Neuromyelitis Optica Spectrum Disorders

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Abstract

The CD40 gene is associated with many autoimmune diseases; however, there are few studies in literatures that investigate the association between CD40 and neuromyelitis optica spectrum disorders (NMOSD). This study aimed to estimate the potential association of CD40 gene polymorphisms with susceptibility to NMOSD. Four SNPs (rs1883832, rs3765459, rs4810485, and rs6074022) were selected and genotyped in a Chinese cohort comprising 162 patients with NMOSD and 237 healthy controls. P values, odds ratios (ORs), and 95 % confidential intervals (CI) for four test models (allelic, additive, dominant, and recessive) were used to assess relationships between CD40 and NMOSD. Results showed that the rs3765459 variant was significantly associated with increased risk of NMOSD in allelic model (OR = 1.48, 95 % CI 1.10–1.98, P = 0.009, P corr = 0.037), and similar results were detected in the additive and recessive models (OR = 1.47, 95 % CI 1.09–1.97, P = 0.010, P corr = 0.042; OR = 2.12, 95 % CI 1.18–3.8, P = 0.012, P corr = 0.048, respectively). Other three SNPs showed protections on NMOSD in dominant models (rs6074022, OR = 0.64, 95 % CI 0.42–0.95, P = 0.031; rs1883832, OR = 0.65, 95 % CI 0.43–0.97, P = 0.036; and rs4810485, OR = 0.63, 95 % CI 0.42–0.95, P = 0.029, respectively), but not significantly after Bonferroni corrections for multiple tests. In addition, haplotype analysis of these SNPs in tight linkage did not reveal significant association with NMOSD. This study indicates that the rs3765459 variant in CD40 gene is associated with susceptibility to NMOSD. Larger sample size studies in other ethnicities are needed to verify this association.

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Acknowledgments

We are grateful to the subjects for their participation and to Editage (http:// online. editage.cn/) for English language editing. We would also like to thank Dr. Yu Tao (Genesky Biotechnologies Inc., Shanghai, China) for assisting with the statistical analysis and Dr. Xinglong Yang (Sichuan University, Chengdu, China) for his revision comments. The study was funded by the National Natural Science Foundation of China (Grant No. 81271321) and the Department of Science and Technology Research Projects in the Sichuan Province of China (Grant No. 2013FZ0015).

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Authors and Affiliations

  1. Department of Neurology, West China Hospital, Sichuan University, Guo Xuexiang #37, Chengdu, 610041, China

    Ziyan Shi, Qin Zhang, Hongxi Chen, Xiaohui Miao, Ju Liu, Zhiyun Lian, Huiru Feng & Hongyu Zhou

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  1. Ziyan Shi
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  2. Qin Zhang
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Correspondence to Hongyu Zhou.

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This study was approved by the Medical Ethics Committee of the West China Hospital, Sichuan University, and performed in accordance with the ethical standards of the Declaration of Helsinki. All participants gave their informed consent prior to their inclusion in this study.

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The authors declare that they have no conflicts of interest.

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Ziyan Shi and Qin Zhang were the first co-authors due to their equal contributions to this work.

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Shi, Z., Zhang, Q., Chen, H. et al. Association of CD40 Gene Polymorphisms with Susceptibility to Neuromyelitis Optica Spectrum Disorders. Mol Neurobiol 54, 5236–5242 (2017). https://doi.org/10.1007/s12035-016-0070-5

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  • DOI: https://doi.org/10.1007/s12035-016-0070-5

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