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不同人群中与重症新冠肺炎相关的基因组位点变异:全球及各国模式

Variation of Genomic Sites Associated with Severe Covid-19 Across Populations: Global and National Patterns.

作者信息

Balanovsky Oleg, Petrushenko Valeria, Mirzaev Karin, Abdullaev Sherzod, Gorin Igor, Chernevskiy Denis, Agdzhoyan Anastasiya, Balanovska Elena, Kryukov Alexander, Temirbulatov Ilyas, Sychev Dmitriy

机构信息

Laboratory of Genome Geography, Vavilov Institute of General Genetics, Moscow, Russia.

Laboratory of Human Population Genetics, Research Centre for Medical Genetics, Moscow, Russia.

出版信息

Pharmgenomics Pers Med. 2021 Nov 4;14:1391-1402. doi: 10.2147/PGPM.S320609. eCollection 2021.

Abstract

BACKGROUND

Information about the distribution of clinically significant genetic markers in different populations may be helpful in elaborating personalized approaches to the clinical management of COVID-19 in the absence of consensus guidelines.

AIM

Analyze frequencies and distribution patterns of two markers associated with severe COVID-19 ( and ) and look for potential correlations between these markers and deaths from COVID-19 among populations in Russia and across the world.

METHODS

We genotyped 1883 samples from 91 ethnic groups pooled into 28 populations representing Russia and its neighbor states. We also compiled a dataset on 32 populations from other regions using genotypes extracted or imputed from the available databases. Geographic maps showing the frequency distribution of the analyzed markers were constructed using the obtained data.

RESULTS

The cartographic analysis revealed that distribution follows the West Eurasian pattern: the marker is frequent among the populations of Europe, West Asia and South Asia but rare or absent in all other parts of the globe. Notably, the transition from high to low frequencies across Eurasia is not abrupt but follows the clinal variation pattern instead. The distribution of is more homogeneous. The analysis of correlations between the frequencies of the studied markers and the epidemiological characteristics of COVID-19 in a population revealed that higher frequencies of both risk alleles correlated positively with mortality from this disease. For , the correlation was especially strong (r = 0.59, = 0.02). These reasonable correlations were observed for the "Russian" dataset only: no such correlations were established for the "world" dataset. This could be attributed to the differences in methodology used to collect COVID-19 statistics in different countries.

CONCLUSION

Our findings suggest that genetic differences between populations make a small yet tangible contribution to the heterogeneity of the pandemic worldwide.

摘要

背景

在缺乏共识指南的情况下,了解不同人群中具有临床意义的基因标记分布情况,可能有助于制定针对 COVID-19 临床管理的个性化方法。

目的

分析与重症 COVID-19 相关的两个标记(和)的频率及分布模式,并在俄罗斯及全球人群中寻找这些标记与 COVID-19 死亡之间的潜在关联。

方法

我们对来自 91 个族群的 1883 个样本进行基因分型,这些族群被合并为代表俄罗斯及其邻国的 28 个群体。我们还利用从现有数据库中提取或推算出的基因型,编制了一个关于其他地区 32 个群体的数据集。利用所得数据构建了显示分析标记频率分布的地理地图。

结果

地图分析显示,的分布遵循西欧亚模式:该标记在欧洲、西亚和南亚人群中常见,但在全球其他所有地区罕见或不存在。值得注意的是,整个欧亚大陆从高频率到低频率的转变并非突然,而是遵循渐变模式。的分布更为均匀。对研究标记的频率与人群中 COVID-19 的流行病学特征之间的相关性分析表明,两个风险等位基因的较高频率均与该疾病的死亡率呈正相关。对于,相关性尤为强烈(r = 0.59,= 0.02)。这些合理的相关性仅在“俄罗斯”数据集中观察到:“世界”数据集中未建立此类相关性。这可能归因于不同国家收集 COVID-Statistics 19 统计数据所采用方法的差异。

结论

我们的研究结果表明,人群之间的基因差异对全球大流行的异质性有微小但切实的贡献。

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