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戳新冠:卡塔尔和意大利人群中免疫相关基因的基因组限制的见解。

Poking COVID-19: Insights on Genomic Constraints among Immune-Related Genes between Qatari and Italian Populations.

机构信息

Qatar Genome Program, Qatar Foundation Research, Development and Innovation, Qatar Foundation, Doha P.O. Box 5825, Qatar.

Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo', 34137 Trieste, Italy.

出版信息

Genes (Basel). 2021 Nov 22;12(11):1842. doi: 10.3390/genes12111842.

DOI:10.3390/genes12111842
PMID:34828448
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8623290/
Abstract

Host genomic information, specifically genomic variations, may characterize susceptibility to disease and identify people with a higher risk of harm, leading to better targeting of care and vaccination. Italy was the epicentre for the spread of COVID-19 in Europe, the first country to go into a national lockdown and has one of the highest COVID-19 associated mortality rates. Qatar, on the other hand has a very low mortality rate. In this study, we compared whole-genome sequencing data of 14398 adults and Qatari-national to 925 Italian individuals. We also included in the comparison whole-exome sequence data from 189 Italian laboratory-confirmed COVID-19 cases. We focused our study on a curated list of 3619 candidate genes involved in innate immunity and host-pathogen interaction. Two population-gene metric scores, the Delta Singleton-Cohort variant score (DSC) and Sum Singleton-Cohort variant score (SSC), were applied to estimate the presence of selective constraints in the Qatari population and in the Italian cohorts. Results based on DSC and SSC metrics demonstrated a different selective pressure on three genes (MUC5AC, ABCA7, FLNA) between Qatari and Italian populations. This study highlighted the genetic differences between Qatari and Italian populations and identified a subset of genes involved in innate immunity and host-pathogen interaction.

摘要

宿主基因组信息,特别是基因组变异,可能是疾病易感性的特征,并能识别出具有更高伤害风险的人群,从而更好地进行护理和疫苗接种。意大利是欧洲 COVID-19 传播的中心,是第一个进入全国封锁的国家,也是 COVID-19 相关死亡率最高的国家之一。另一方面,卡塔尔的死亡率非常低。在这项研究中,我们比较了 14398 名成年人和卡塔尔国民的全基因组测序数据与 925 名意大利个体的全基因组测序数据。我们还将来自 189 名意大利实验室确诊 COVID-19 病例的外显子组序列数据纳入比较。我们将研究重点放在涉及固有免疫和宿主-病原体相互作用的 3619 个候选基因的精选列表上。应用了两种人群基因度量分数,Delta Singleton-Cohort 变体分数 (DSC) 和 Sum Singleton-Cohort 变体分数 (SSC),以估计卡塔尔人群和意大利队列中选择压力的存在。基于 DSC 和 SSC 度量的结果表明,卡塔尔和意大利人群中三个基因 (MUC5AC、ABCA7、FLNA) 受到不同的选择压力。这项研究强调了卡塔尔和意大利人群之间的遗传差异,并确定了一组参与固有免疫和宿主-病原体相互作用的基因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e442/8623290/1e72a28f6dd3/genes-12-01842-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e442/8623290/597fe3a1db0f/genes-12-01842-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e442/8623290/1e72a28f6dd3/genes-12-01842-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e442/8623290/597fe3a1db0f/genes-12-01842-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e442/8623290/1e72a28f6dd3/genes-12-01842-g002.jpg

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