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由于东亚的创始人效应,遗传的CARD9缺陷

Dan Tomomasa¹, Beom Hee Lee², Yuki Hirata³

¹Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.

Journal of clinical immunology

|May 17, 2024

概括

卡达胺9 (CARD9) 缺乏导致真菌性疾病. 一种特定的CARD9变种c.820dup在东亚患有Candida albicans感染的患者中很常见,这表明他们有共同的祖先和环境影响.

科学领域:

免疫学免疫学免疫学
遗传学遗传学是一个
菌类学菌类学是指菌类学.

背景情况:

自体逆向的CARD9缺陷与真菌感染有关.
患有表面和侵入性真菌病的患者,包括Candida albicans.

研究的目的:

为了研究两名日本患者的真菌疾病的遗传基础.
分析东亚人口中CARD9变异的流行程度和起源.

主要方法:

在两名患有Candida albicans感染的日本患者中对CARD9的遗传分析.
与之前报告的中国,日本和韩国的病例相比,CARD9变种和单元类型的比较.

主要成果:

这两名日本患者均携带双性CARD9变异,包括复发的c.820dup变异.
在多名东亚患者中,c.820dup CARD9 变种在同卵性或异卵性状态中被发现.
围绕c.820dup的共享的10Kb单元型表明在过去的4000年内有一个共同的东亚祖先.
环境因素可能解释了菲亚洛波拉种类 (Phialophora spp.) 的缺失. 与中国队伍相比,研究患者的感染率.

结论:

这种c.820dup CARD9变异在东亚患有真菌病的患者中是一个重要的遗传因素.
这种变种的流行表明了共同的祖先起源和潜在的创始人效应.
环境因素在与CARD9缺乏相关的真菌病的临床表现中发挥着作用.

关键词:

在Candida spp.菲亚洛福拉种类 (Phialophora spp.) 的种类在CARD9中存在缺陷.东亚东亚东亚东亚 c.820dup的变体是什么中枢神经系统中枢神经系统这是创始人效应.菌病是一种真菌性疾病.形性形性形性形性形性形

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