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Association between MEF2 family gene polymorphisms and susceptibility to multiple sclerosis in Chinese population

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Abstract

Purpose

Multiple sclerosis (MS) is an autoimmune disease characterized by inflammatory demyelinating lesions in the white matter of the central nervous system. Myocyte enhancer factor 2 (MEF2) family genes play important roles in the immune response. This study focuses on the relationship between MEF2 family gene polymorphisms and MS.

Methods

A total of 174 MS patients and 120 healthy controls were recruited. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to analyze the gene polymorphisms of MEF2D and MEF2C. In addition, peripheral blood was collected and leukocytes were isolated. The transcription level of MEF2D in the two groups of samples was detected with quantitative real time polymerase chain reaction (qRT-PCR).

Results

We found that the C allele frequency and CC genotype frequency of rs2274316 in MEF2D were significantly higher in MS patients. The C allele and CT genotype distribution for rs3790455 were significantly more frequent in MS patients. Female patients showed higher CC genotype frequency of rs2274316. The genotype frequency distribution of rs2274316 and rs3790455 were not related to onset age and phenotype of MS patients. In addition, this study also proved that MEF2D was significantly overexpressed in the peripheral blood leukocytes of MS patients. The transcription level of MEF2D was significantly higher in patients with CC genotype of rs2274316.

Conclusion

These findings suggest rs2274316 and rs3790455 of MEF2D gene are potential genetic risk factors for MS in Chinese population. The transcription level of MEF2D is also associated with susceptibility to MS and MEF2D gene polymorphisms.

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Availability of data and material

The data used to support the findings of this study are available from the corresponding author upon reasonable request.

Code availability

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Acknowledgements

Not applicable.

Funding

This work was supported by the Zhejiang Basic Public Welfare Research Project (LTGY23H090006), the Zhejiang Medical and Health Science and Technology Plan Project (2022489445).

Author information

Author notes

  1. Lei Wu, Bo Liu and Yanbing Wei equally contributed.

Authors and Affiliations

  1. Department of Neurology, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, 310000, China

    Lei Wu

  2. Department of Clinical Laboratory, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, 310000, China

    Bo Liu

  3. School of Statistics, Renmin University of China, Bei**g, 100000, China

    Yanbing Wei

  4. Hangzhou Cred Technology Co., Ltd, Hangzhou, 310000, China

    Peng Lu

Authors
  1. Lei Wu
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Contributions

LW and YW conceived and designed the experiments and revised the manuscript. BL did genetic analyzes and collected the clinical data. LW, YW and PL analyzed and interpreted the data; and drafted the manuscript. All authors were involved in the revision of the manuscript.

Corresponding author

Correspondence to Yanbing Wei.

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The study was designed and performed in agreement with the Declaration of Helsinki and was approved by Ethics Committee of The Second Affiliated hospital of Zhejiang University School of Medicine (Approval number: 20230416). Written informed consent was obtained from individual or guardian participants.

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Wu, L., Liu, B., Wei, Y. et al. Association between MEF2 family gene polymorphisms and susceptibility to multiple sclerosis in Chinese population. Acta Neurol Belg 124, 141–149 (2024). https://doi.org/10.1007/s13760-023-02357-0

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  • DOI: https://doi.org/10.1007/s13760-023-02357-0

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