• Qiong Zhang, Jie Zhou, Hong Lei, Chun-Yu Zhu, Fei-Feng Li, Dong Zheng, and Shu-Lin Liu.
• College 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 (Baltimore). 2018 Aug 1; 97 (31): e11420e11420.

Trial DesignCerebral small vessel diseases (CSVDs) are a group of brain pathological processes involving cerebral small arteries, brain venules, and capillaries. The recombination signal-binding protein Jκ (RBPJ) is implicated in the pathogenesis of these diseases but its actual roles need confirmation. The aim of this work was to evaluate variations in RBPJ gene for their possible associations with the disease.MethodsThe RBPJ gene was sequenced for 400 patients with cerebral infarction disease and 600 normal controls. The statistical analyses and Hardy-Weinberg equilibrium tests of the patients and control populations were conducted using the SPSS software (version 19.0) and Plink (version 1.9), Haploview software, and online software SNPSpD.ResultsWe characterized variants rs2871198, rs1397731, rs3822223, rs2077777, rs2270226, and rs2788861 within or near the RBPJ gene. The genetic heterozygosity of rs2871198, rs1397731, rs3822223, rs2077777, and rs2270226 was very high. Statistical analysis showed that the variants rs2270226 and rs2077777 in the gene were associated with the risk of cerebral infarction diseases in the Chinese Han population.Conclusionsrs2270226 and rs2077777 in the RBPJ gene were associated with the risk of cerebral infarction diseases in the Chinese Han population.

11 keywords...

hide…