An analysis of the demographic history of the risk allele R4810K in RNF213 of moyamoya disease.
An analysis of the demographic history of the risk allele R4810K in RNF213 of moyamoya disease.
复制标题
烟雾病RNF213中危险等位基因R4810K的人口统计学史分析
DOI：
10.1111/ahg.12424
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发表时间：
2021-09
影响因子：
1.9
通讯作者：
Oota H
中科院分区：
文献类型：
--
作者：
Koganebuchi K;Sato K;Fujii K;Kumabe T;Haneji K;Toma T;Ishida H;Joh K;Soejima H;Mano S;Ogawa M;Oota H
Ring finger protein 213（RNF 213）是烟雾病（moyamoya disease，MMD）的易感基因。先前的病例对照研究和家族分析表明东亚特异性变异R4810 K（rs 112735431）与MMD有很强的关联。我们的目标是揭示东亚人群中R4810 K的进化历史。使用靶向捕获测序对日本24名MMD患者的RNF 213基因座进行测序。根据序列数据，我们进行了群体遗传分析，并估计了R4810 K的合并模拟的年龄。RNF 213基因的多样性在非洲人中高于非非洲人，这可以通过非洲移民的瓶颈效应来解释。合并模拟显示，该风险变体在14，500 -5100年前出生于东亚，之后来到日本列岛，可能是在基于考古证据的已知迁移发生的时期。尽管临床数据显示症状各不相同，但所有携带风险等位基因的序列几乎相同，只有少数例外，这表明MMD表型不受该基因变体的影响，而更受环境因素的影响。
Ring finger protein 213 (RNF213) is a susceptibility gene of moyamoya disease (MMD). A previous case–control study and a family analysis demonstrated a strong association of the East Asian‐specific variant, R4810K (rs112735431), with MMD. Our aim is to uncover evolutionary history of R4810K in East Asian populations. The RNF213 locus of 24 MMD patients in Japan were sequenced using targeted‐capture sequencing. Based on the sequence data, we conducted population genetic analysis and estimated the age of R4810K using coalescent simulation. The diversity of the RNF213 gene was higher in Africans than non‐Africans, which can be explained by bottleneck effect of the out‐of‐Africa migration. Coalescent simulation showed that the risk variant was born in East Asia 14,500–5100 years ago and came to the Japanese archipelago afterward, probably in the period when the known migration based on archaeological evidences occurred. Although clinical data show that the symptoms varies, all sequences harboring the risk allele are almost identical with a small number of exceptions, suggesting the MMD phenotypes are unaffected by the variants of this gene and rather would be more affected by environmental factors.
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影响因子：
16.8
作者：
Kuhner MK
通讯作者：
Kuhner MK
影响因子：
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作者：
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通讯作者：
Kim JS
影响因子：
1.9
作者：
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通讯作者：
Yonekawa, Yasuhiro
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通讯作者：
Saitou N
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作者：
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通讯作者：
Tamura, Koichiro