The Role of RNF213 4810G>A and 4950G>A Variants in Patients with Moyamoya Disease in Korea.
The Role of RNF213 4810G>A and 4950G>A Variants in Patients with Moyamoya Disease in Korea.
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DOI：
10.3390/ijms18112477
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发表时间：
2017-11-21
影响因子：
5.6
通讯作者：
Kim DS
中科院分区：
文献类型：
--
作者：
Park YS;An HJ;Kim JO;Kim WS;Han IB;Kim OJ;Kim NK;Kim DS
虽然RNF213 4810G>；A的创立者变异是东亚人烟雾病(MMD)的主要遗传风险因素，但RNF213变异的频率和疾病易感性仍然很大程度上尚不清楚。本研究调查了RNF213(4448、4810、4863和4950)在韩国MMD和健康对照人群中的突变情况。我们进行了聚合酶链式反应-限制性片段长度多态性分析。为了确定RNF213基因多态性与MMD疾病的关系，我们进行了多变量Logistic回归和Fisher‘s精确检验等统计分析。对117例MMD患者的遗传资料进行了分析，并与253名健康对照进行了比较。我们评估和比较了MMD组和对照组中RNF213(4448、4810、4863和4950)的单核苷酸多态性。我们进行了全基因组关联研究，以探讨MMD的遗传病理生理学。在RNF213变异(4448G>；A、4810G>；A、4863G>；A和4950G>；A)中，RNF213 4810G>；A和4950G>；A变异在MMD患者中频率较高。在亚组分析中，RNF213 4810G>；A在烟雾病中的频率更高，与GG+AA基因型在烟雾病中的比较也有显著差异。这些结果证实了RNF213 4810G>；A和RNF213 4950G>；A在MMD患者中的频率较高。我们已经证实RNF213 4810G>；A和4950G>；A与韩国儿童和成人MMD以及缺血型和出血性MMD密切相关。
Although a founder variant of RNF213 4810G>A is a major genetic risk factor for moyamoya disease (MMD) in East Asians, the frequency and disease susceptibility of RNF213 variants remain largely unknown. This study investigated the mutation analysis of RNF213 (4448, 4810, 4863, and 4950) between Korean MMD and healthy controls. We performed a polymerase chain reaction-restriction fragment length polymorphism analysis. To identify the association between RNF213 gene polymorphisms and MMD disease, we performed statistical analyses such as multivariable logistic regression and Fisher’s exact test. Genetic data from 117 MMD patients were analyzed and compared with 253 healthy controls. We assessed and compared single nucleotide polymorphisms of RNF213 (4448, 4810, 4863, and 4950) between MMD and control groups. We performed genome-wide association studies to investigate the genetic pathophysiology of MMD. Among the RNF213 variants (4448G>A, 4810G>A, 4863G>A, and 4950G>A), RNF213 4810G>A and 4950G>A variants were more frequent in MMD patients. In a subgroup analysis, the RNF213 4810G>A was more frequent in moyamoya disease, and the comparison with GG+AA genotype was also significantly different in moyamoya patients. These results confirm that RNF213 4810G>A and RNF213 4950G>A were more frequent in MMD patients. We have confirmed that RNF213 4810G>A and 4950G>A are strongly associated with Korean MMD in children and adults as well as for the ischemic and hemorrhagic types.
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影响因子：
1.4
作者：
EZURA, M;YOSHIMOTO, T;MIZOI, K
通讯作者：
MIZOI, K
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：
8.3
作者：
Kuroda, Satoshi;Hashimoto, Nobuo;Iwasaki, Yoshinobu
通讯作者：
Iwasaki, Yoshinobu
影响因子：
4.8
作者：
Kang, Hyun-Seung;Kim, Seung-Ki;Wang, Kyu-Chang
通讯作者：
Wang, Kyu-Chang
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