An analysis of the demographic history of the risk allele R4810K in RNF213 of moyamoya disease,Annals of Human Genetics

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An analysis of the demographic history of the risk allele R4810K in RNF213 of moyamoya disease
Annals of Human Genetics ( IF 1.0 ) Pub Date : 2021-05-20 , DOI: 10.1111/ahg.12424
Kae Koganebuchi _{1,

2,

3} , Kimitoshi Sato ₄ , Kiyotaka Fujii ₄ , Toshihiro Kumabe ₄ , Kuniaki Haneji ₅ , Takashi Toma ₅ , Hajime Ishida ₅ , Keiichiro Joh ₆ , Hidenobu Soejima ₆ , Shuhei Mano ₇ , Motoyuki Ogawa _{1,

8} , Hiroki Oota _{1,

3,

8}

Affiliation

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.

中文翻译：

烟雾病RNF213危险等位基因R4810K的人口学史分析

无名指蛋白213（RNF213）是烟雾病（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 R4810K (rs112735431) 与 MMD 之间存在很强的关联。我们的目标是揭示 R4810K 在东亚人群中的进化历史。

更新日期：2021-05-20

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