RBPJ polymorphisms associated with cerebral infarction diseases in Chinese Han population: A Clinical Trial/Experimental Study (CONSORT Compliant).
RBPJ polymorphisms associated with cerebral infarction diseases in Chinese Han population: A Clinical Trial/Experimental Study (CONSORT Compliant).
复制标题
RBPJ多态性与中国汉族人群脑梗死疾病相关的临床试验/实验研究（符合CONSORT标准）
DOI：
10.1097/md.0000000000011420
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发表时间：
2018-08
期刊：
影响因子：
1.6
通讯作者：
Liu SL
中科院分区：
文献类型：
--
作者：
Zhang Q;Zhou J;Lei H;Zhu CY;Li FF;Zheng D;Liu SL
脑小血管病是一组累及脑小动脉、脑小静脉和毛细血管的脑病理过程。重组信号结合蛋白Jκ（RBPJ）参与了这些疾病的发病机制，但其实际作用尚待证实。本研究的目的是评估RBPJ基因的变异与疾病的可能关联。对400例脑梗死患者和600例正常对照者的RBPJ基因进行测序。使用SPSS软件（19.0版）和Plink（1.9版）、Haploview软件和在线软件SNPSpD对患者和对照人群进行统计分析和Hardy-Weinberg平衡检验。我们表征了RBPJ基因内或附近的变体rs 2871198、rs 1397731、rs3822223、rs 2077777、rs 2270226和rs 2788861。rs 2871198、rs 1397731、rs3822223、rs 2077777和rs 2270226的遗传杂合度很高。统计学分析表明，该基因rs 2270226和rs 2077777变异与中国汉族人群脑梗死疾病的危险性相关。RBPJ基因rs 2270226和rs 2077777与中国汉族人群脑梗死相关。
Cerebral 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. The 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. We 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. rs2270226 and rs2077777 in the RBPJ gene were associated with the risk of cerebral infarction diseases in the Chinese Han population.