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RBPJ polymorphisms associated with cerebral infarction diseases in Chinese Han population: A Clinical

Qiong Zhang1, Jie Zhou, Hong Lei

  • 1College of Wildlife Resources, Northeast Forestry University Department of Antibiotics, Heilongjiang Institute for Food and Drug Control Systemomics Center, College of Pharmacy, and Genomics Research Center (State-Province Key Laboratories of Biomedicine-Pharmaceutics of China), Harbin Medical University, Harbin Translational Medicine Research and Cooperation Center of Northern China, Heilongjiang Academy of Medical Sciences, Heilongjiang Department of Neurology, Daqing Oilfield General Hospital, Daqing, China Department of Microbiology, Immunology and Infectious Diseases, University of Calgary, Calgary, Canada.

Medicine
|August 5, 2018
PubMed

Insights

Genetic variations in the RBPJ gene, specifically rs2270226 and rs2077777, are linked to an increased risk of cerebral infarction diseases. This finding is significant for the Chinese Han population in understanding small vessel disease pathogenesis.

Area of Science:

  • Genetics
  • Neurology
  • Pathology

Background:

  • Cerebral small vessel diseases (CSVDs) encompass pathological processes affecting small cerebral arteries, venules, and capillaries.
  • The recombination signal-binding protein Jκ (RBPJ) is implicated in CSVD pathogenesis, necessitating further investigation into its specific roles.

Purpose of the Study:

  • To investigate the association between variations in the RBPJ gene and the risk of cerebral infarction diseases.

Main Methods:

  • Sequencing of the RBPJ gene in 400 patients with cerebral infarction and 600 healthy controls.
  • Statistical analyses, including Hardy-Weinberg equilibrium tests, were performed using specialized software (SPSS, Plink, Haploview, SNPSpD).

Main Results:

  • Several variants within or near the RBPJ gene were identified, including rs2871198, rs1397731, rs3822223, rs2077777, rs2270226, and rs2788861.
  • High genetic heterozygosity was observed for variants rs2871198, rs1397731, rs3822223, rs2077777, and rs2270226.
  • The variants rs2270226 and rs2077777 in the RBPJ gene showed a significant association with the risk of cerebral infarction diseases in the Chinese Han population.

Conclusions:

  • Specific variants (rs2270226 and rs2077777) in the RBPJ gene are associated with an increased risk of cerebral infarction diseases.
  • These findings contribute to understanding the genetic underpinnings of CSVDs in the Chinese Han population.
Abstract

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