韩国人颅内动脉狭窄闭塞性疾病和烟雾病中RNF213 rs112735431基因多态性
RNF213 rs112735431 polymorphism in intracranial artery steno-occlusive disease and moyamoya disease in Koreans.
作者信息
Park Min-Gyu, Shin Jin-Hong, Lee Sang Weon, Park Hae Rim, Park Kyung-Pil
机构信息
Departments of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Republic of Korea.
Departments of Neurosurgery, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Republic of Korea.
出版信息
J Neurol Sci. 2017 Apr 15;375:331-334. doi: 10.1016/j.jns.2017.02.033. Epub 2017 Feb 16.
BACKGROUND
The rs112735431 polymorphism of the RNF213, a susceptibility variant for moyamoya disease (MMD), may be associated with non-MMD intracranial artery steno-occlusive disease of non-MMD type (non-MMD ICAD) in Asian. We investigated whether the rs112735431 polymorphism of the RNF213 affect the development of non-MMD ICAD in Koreans compared to MMD and control group.
METHODS
We included 31 patients with non-MMD ICAD, 25 patients with MMD, and 100 participants as control group. The rs112735431 polymorphism of the RNF213 was evaluated by polymerase chain reaction amplification of target and detection by restriction fragment length polymorphism analysis. Clinical phenotype was compared between patients with and without the rs112735431 polymorphism in non-MMD ICAD and MMD.
RESULTS
The rs112735431 polymorphism of the RNF213 was significantly associated with non-MMD ICAD (p=0.001; odds ratio, 14.3; 95% confidence interval, 2.80-73.2) and MMD (p<0.0001; odds ratio, 126.0; 95% confidence interval, 24.2-656.0). The rate of hypertension was more frequent in MMD with the rs112735431 polymorphism than MMD without polymorphism (p=0.010).
CONCLUSIONS
The rs112735431 polymorphism of the RNF213 is highly associated not only with MMD but also with non-MMD ICAD in Koreans. Also, our study suggests that the rs112735431 polymorphism of the RNF213 may be linked to the hypertension in MMD. Further studies are needed to clarify the relationship between the rs112735431 polymorphism of the RNF213 and hypertension in patients with MMD.
背景
RNF213基因的rs112735431多态性是烟雾病（MMD）的一个易感变异，在亚洲人群中可能与非MMD型颅内动脉狭窄闭塞性疾病（非MMD ICAD）相关。我们研究了与MMD组和对照组相比，RNF213基因的rs112735431多态性是否会影响韩国人非MMD ICAD的发病情况。
方法
我们纳入了31例非MMD ICAD患者、25例MMD患者以及100名参与者作为对照组。通过聚合酶链反应扩增靶点来评估RNF213基因的rs112735431多态性，并通过限制性片段长度多态性分析进行检测。比较了非MMD ICAD组和MMD组中有无rs112735431多态性患者的临床表型。
结果
RNF213基因的rs112735431多态性与非MMD ICAD显著相关（p = 0.001；比值比，14.3；95%置信区间，2.80 - 73.2），与MMD也显著相关（p < 0.0001；比值比，126.0；95%置信区间，24.2 - 656.0）。存在rs112735431多态性的MMD患者中高血压发生率高于无该多态性的MMD患者（p = 0.010）。
结论
RNF213基因的rs112735431多态性不仅与韩国人的MMD高度相关，也与非MMD ICAD高度相关。此外，我们的研究表明RNF213基因的rs112735431多态性可能与MMD患者的高血压有关。需要进一步研究来阐明RNF213基因的rs112735431多态性与MMD患者高血压之间的关系。
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