Genetic analysis of RNF213 p.R4810K variant in non-moyamoya intracranial artery stenosis/occlusion disease in a Chinese population.
Genetic analysis of RNF213 p.R4810K variant in non-moyamoya intracranial artery stenosis/occlusion disease in a Chinese population.
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中国人群非烟雾病颅内动脉狭窄/闭塞症RNF213 p.R4810K变异基因分析
DOI：
10.1186/s12199-017-0649-0
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发表时间：
2017-04-24
影响因子：
4.7
通讯作者：
Yan J
中科院分区：
文献类型：
--
作者：
Zhang T;Guo C;Liao X;Xia J;Wang X;Deng J;Yan J
RNF 213 p.R4810K在亚洲被鉴定为烟雾病的易感变异体，在日本和韩国被鉴定为非烟雾病颅内动脉狭窄/闭塞疾病。在中国非烟雾病颅内动脉狭窄/闭塞疾病患者中评价了该变异的发生率。本研究中使用了两个研究人群。1名于2015年4月至2016年5月在河北医科大学第二医院招募。另一份是2014年收集的湘雅医院颅内动脉狭窄/闭塞患者存档DNA样本。在总共715名患有非烟雾病颅内动脉狭窄/闭塞疾病的患者中研究了RNF 213 p.R4810K的发生。以507例正常人RNF 213 p.R4810K携带率为对照。715例非烟雾病颅内动脉狭窄/闭塞患者中有6例（0.84%）和507例正常对照中有2例（0.39%）存在RNF 213 p.R4810K变异。非烟雾病颅内动脉狭窄/闭塞组RNF 213 p.R4810K携带率高于正常组。然而，未观察到统计学显著相关性（比值比，2.14; 95%置信区间，0.43-10.63; p = 0.56）。中国非烟雾病颅内动脉狭窄/闭塞患者RNF 213 p.R4810K携带率显著低于韩国和日本患者。遗传异质性非常明显。需要进一步开展系统的遗传流行病学研究，重点是在更大的人群中对颅内动脉狭窄/闭塞疾病的中国特有遗传变异和环境危险因素进行研究。
RNF213 p.R4810K was identified as a susceptibility variant for moyamoya disease in Asia and non-moyamoya intracranial artery stenosis/occlusion disease in Japan and Korea recently. The occurrence of this variant was evaluated in patients with non-moyamoya intracranial artery stenosis/occlusion disease in China. Two study populations were used in this study. One was recruited from the Second Hospital of Hebei Medical University from April 2015 to May 2016. The other was the archived DNA samples of intracranial artery stenosis/occlusion patients in XiangYa Hospital collected in 2014. The occurrence of RNF213 p.R4810K was investigated in a total of 715 patients with non-moyamoya intracranial artery stenosis/occlusion disease. The carrier rate of RNF213 p.R4810K in 507 normal individuals was used as control. Six of 715 patients (0.84%) with non-moyamoya intracranial artery stenosis/occlusion disease and 2 of the 507 normal controls (0.39%) had RNF213 p.R4810K variant. The carrier rate of RNF213 p.R4810K was higher in non-moyamoya intracranial artery stenosis/occlusion group than that in the normal group. However, no statistically significant association was observed (Odds ratio, 2.14; 95% confidence interval, 0.43–10.63; p = 0.56). The carrier rate of RNF213 p.R4810K in Chinese non-moyamoya intracranial artery stenosis/occlusion disease patients was significantly lower than that in Korea or Japan. Genetic heterogeneity was highly indicated. Further systematic genetic epidemiology studies with emphasis on Chinese-specific genetic variants and environmental risk factors of intracranial artery stenosis/occlusion disease in larger population are needed.
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影响因子：
3.7
作者：
Bang OY;Chung JW;Cha J;Lee MJ;Yeon JY;Ki CS;Jeon P;Kim JS;Hong SC
通讯作者：
Hong SC
影响因子：
--
作者：
Jang MA;Shin S;Yoon JH;Ki CS
通讯作者：
Ki CS
影响因子：
4.2
作者：
Abramzon Y;Johnson JO;Scholz SW;Taylor JP;Brunetti M;Calvo A;Mandrioli J;Benatar M;Mora G;Restagno G;Chiò A;Traynor BJ
通讯作者：
Traynor BJ
DOI：
10.1073/pnas.95.15.8630
发表时间：
1998-07-21
影响因子：
11.1
作者：
Geisbrecht, BV;Collins, CS;Gould, SJ
通讯作者：
Gould, SJ
影响因子：
3.7
作者：
Bang OY;Ryoo S;Kim SJ;Yoon CH;Cha J;Yeon JY;Kim KH;Kim GM;Chung CS;Lee KH;Shin HJ;Ki CS;Jeon P;Kim JS;Hong SC
通讯作者：
Hong SC