神经退行性疾病的易感性:来自古基因组数据的见解

4区 生物学 Q2 Medicine
D. Toncheva, S. Karachanak-Yankova, M. Marinova, P. Borovska, D. Serbezov
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引用次数: 1

摘要

近年来积累的古代人类基因组数据可用于建立与人类疾病相关的遗传变异的时空轨迹。这些知识可能会说明过去的适应是否以及如何影响当代人类健康和医学。几乎没有任何研究试图评估古代人类群体对神经退行性疾病的遗传易感性。利用公开的古人类全基因组数据,本研究评估了古人类社区神经退行性疾病的分子易感性。对古代全基因组数据进行筛选,以寻找与现代人群中神经退行性疾病明确相关的变异,确定与孟德尔帕金森病相关的LRRK2基因的两种罕见变异,与罕见癫痫相关的CRH基因的一种致病性变异,以及与阿尔茨海默病相关的TREM2基因的一种罕见变异。他们的历史和地理患病率也被评估,表明不同的时空频率动态这些临床显著变异。神经退行性疾病的发病机制通常知之甚少,可以通过研究过去的遗传变异与生态和进化因素(如不利的环境条件、特定的选择压力、群体隔离期和混合过程)的相互作用来阐明。古代基因组中神经退行性疾病的分子易感性数据对现代医学诊断和治疗实践具有指导意义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Susceptibility to Neurodegenerative Disorders: Insights from Paleogenomic Data
Ancient human genome data accumulated in recent years can be employed to establish the spatiotemporal trajectories of genetic variants associated with human diseases. Such knowledge might illuminate if and how past adaptations impact contemporary human health and medicine. Scarcely any studies have yet attempted to evaluate genetic susceptibility to neurodegenerative disorders in ancient human communities. Using publicly available ancient human genome-wide data, this study evaluated the molecular predisposition to neurodegenerative disorders in ancient human communities. Ancient genome-wide data was screened for the presence of variants unequivocally associated with neurodegenerative disorders in modern populations, identifying two rare variants in the LRRK2 gene associated with Mendelian Parkinson’s disease, a pathogenic variant in the CRH gene associated with an uncommon form of epilepsy, and a rare variant in the TREM2 gene that is a possible risk modifier associated with Alzheimer’s disease. Their historical and geographic prevalence was also assessed, indicating differing spatiotemporal frequency dynamics for these clinically significant variants. Neurodegenerative disorders often have poorly understood pathogenesis that might be elucidated by studying the interaction of past genetic variability with ecological and evolutionary factors such as adverse environmental conditions, specific selective pressures, periods of population isolation, and admixture processes. Data on molecular predisposition to neurodegenerative disorders in ancient genomes is instructive to modern medical diagnostic and therapeutic practices.
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来源期刊
Human Biology
Human Biology 生物-生物学
CiteScore
1.90
自引率
0.00%
发文量
88
审稿时长
>12 weeks
期刊介绍: Human Biology publishes original scientific articles, brief communications, letters to the editor, and review articles on the general topic of biological anthropology. Our main focus is understanding human biological variation and human evolution through a broad range of approaches. We encourage investigators to submit any study on human biological diversity presented from an evolutionary or adaptive perspective. Priority will be given to interdisciplinary studies that seek to better explain the interaction between cultural processes and biological processes in our evolution. Methodological papers are also encouraged. Any computational approach intended to summarize cultural variation is encouraged. Studies that are essentially descriptive or concern only a limited geographic area are acceptable only when they have a wider relevance to understanding human biological variation. Manuscripts may cover any of the following disciplines, once the anthropological focus is apparent: human population genetics, evolutionary and genetic demography, quantitative genetics, evolutionary biology, ancient DNA studies, biological diversity interpreted in terms of adaptation (biometry, physical anthropology), and interdisciplinary research linking biological and cultural diversity (inferred from linguistic variability, ethnological diversity, archaeological evidence, etc.).
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