Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals.
Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals.
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DOI：
10.1186/s12881-015-0252-4
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发表时间：
2015-11-20
影响因子：
--
通讯作者：
Ki CS
中科院分区：
文献类型：
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作者：
Jang MA;Shin S;Yoon JH;Ki CS
烟雾病（MMD）是一种进行性狭窄闭塞性血管病，累及颅内大动脉并伴有异常侧支血管。最近，RNF 213被确定为MMD的易感基因，p.Arg4810Lys（rs 112735431）是东亚MMD患者中最常见的变异。有趣的是，许多研究报告称，日本，韩国和中国的总人口中有一定比例也有这种变体。在这项研究中，我们调查了这种变异的频率，并估计了两个不同的韩国人群的MMD的比值比。共有1,516个匿名DNA样本，799个来自脐带血库，717个来自常规健康检查的成年人，使用靶向桑格测序进行基因分型。在脐带血样本和成人样本中分别检测到p.Arg4810Lys变体的基因型频率为2.25%（18/799; 95%置信区间（CI），1.43- 3.53%）和2.65%（19/717; 95%CI，1.70- 4.10%）。该变异与MMD有很强的相关性（P < 0.001），基于脐带血和成人样本的比值比分别为162.7（95%CI，65.5-403.9）和137.8（95%CI，55.8-339.9）。这些结果证实了RNF 213 p.Arg4810Lys变异在韩国普通人群中并不罕见，并为该变异与MMD的关联提供了参考数据。
Moyamoya disease (MMD) is a progressive steno-occlusive vasculopathy that involves large intracranial arteries accompanied by abnormal collateral vessels. Recently, RNF213 was identified as a susceptibility gene for MMD and p.Arg4810Lys (rs112735431) is the most common variant in East Asian MMD patients. Interestingly, many studies have reported that a certain proportion of the general population in Japan, Korea, and China also has this variant. In this study, we investigated the frequency of this variant and estimated an odds ratio of MMD using two different Korean populations. A total of 1,516 anonymous DNA samples, 799 from an umbilical cord blood bank and 717 from routine health-checked adults, were genotyped using targeted Sanger sequencing. The p.Arg4810Lys variant was detected at genotype frequencies of 2.25 % (18/799; 95 % confidence interval (CI), 1.43-3.53 %) in cord blood samples and 2.65 % (19/717; 95 % CI, 1.70-4.10 %) in adult samples, respectively. This variant showed a strong association with MMD (P < 0.001), giving an odds ratio of 162.7 (95 % CI, 65.5–403.9) and 137.8 (95 % CI, 55.8–339.9) based on the cord blood and adults samples, respectively. These results confirm that the RNF213 p.Arg4810Lys variant is not uncommon in the general Korean population and provide reference data for the association of this variant and MMD.