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Combined effects of age and polymorphisms in Notch3 in the pathogenesis of cerebral infarction disease

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Abstract

Cerebral infarction disease is a severe hypoxic ischemic tissue necrosis in the brain, often leading to long-term functional disability and residual impairments. The Notch signaling pathway plays key roles in proliferation and survival of the stem/progenitor cells of the central and peripheral nervous systems. Notch3 is an important member of the pathway, but the relationships between the genetic abnormalities and cerebral infarction disease still remain unclear. The aim of this work was to evaluate variations in Notch3 gene for their possible associations with the cerebral infarction disease. We sequenced the Notch3 gene for 260 patients with cerebral infarction disease, 300 normal controls with old ages and 300 normal controls with younger ages, and identified the variations. The statistical analyses were conducted using Chi-Square Tests as implemented in SPSS (version 19.0). The Hardy-Weinberg equilibrium test of the population was carried out using the online software OEGE. Six variations, including rs1044116, rs1044009, rs1044006, rs10408676, rs1043996 and rs16980398 within or near the Notch3 gene, were found. The genetic heterozygosity of rs1044116, rs1044009, rs1044006, and rs1043996 was very high, whereas that of rs10408676 and rs16980398 was very low. Statistical analyses showed that rs1044009 and rs1044006 were associated with the risk of cerebral infarction disease in the Chinese Han agedness population. The SNPs rs1044009 and rs1044006 in the Notch3 gene were associated with the risk of cerebral infarction diseases in the Chinese Han agedness population.

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Acknowledgments

The authors thank the patients and the family members for their cooperation and participation in this study.

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Authors and Affiliations

  1. Systemomics Center, College of Pharmacy, and Genomics Research Center (State-Province Key Laboratories of Biomedicine-Pharmaceutics of China), Harbin Medical University, Harbin, China

    Chun-Yu Zhu, Qing-Xuan Zeng, Yu Qian, Huan Li, Zi-Xia Yang, Ya-Mei Yang, Fei-Feng Li & Shu-Lin Liu

  2. Department of Neurology, Daqing Oilfield General Hospital, Daqing, China

    Chun-Yu Zhu

  3. Department of Occupational Health, College of Public Health, Harbin Medical University, Harbin, China

    Yue Wang

  4. Department of Antibiotics, Heilongjiang province food and drug inspection testing Institute, Harbin, China

    Qiong Zhang

  5. Translational Medicine Research and Cooperation Center of Northern China, Heilongjiang Academy of Medical Sciences, Heilongjiang, China

    Fei-Feng Li & Shu-Lin Liu

  6. Department of Microbiology and Infectious Diseases, University of Calgary, Calgary, Canada

    Shu-Lin Liu

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  1. Chun-Yu Zhu
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  2. Yue Wang
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  3. Qing-Xuan Zeng
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  7. Ya-Mei Yang
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  8. Qiong Zhang
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  9. Fei-Feng Li
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  10. Shu-Lin Liu
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Correspondence to Fei-Feng Li or Shu-Lin Liu.

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Funding

This work was supported by grants of National Natural Science Foundation of China (NSFC30870098, 30,970,119, 81,030,029), and a grant from Health and Family Planning Commission of Heilongjiang province Foundation (2016–189), a grant from Heilongjiang Innovation Research Foundation for College Students (201,610,226,096).

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The authors have declared that no competing interests exist.

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Ethics Committee of Harbin Medical University.

Author contributions

Study concept or design: FFL, SLL; specimen collection: CYZ, YW; experiment: CYZ, YW, QXZ, YQ, HL, YMY, ZXY; funding: SLL; drafting/revising of manuscript: all the authors.

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Chun-Yu Zhu, Yue Wang contributed equally to this work.

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Zhu, CY., Wang, Y., Zeng, QX. et al. Combined effects of age and polymorphisms in Notch3 in the pathogenesis of cerebral infarction disease. Metab Brain Dis 31, 1157–1164 (2016). https://doi.org/10.1007/s11011-016-9868-0

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