关于 "印度人群中 EGLN1 基因中 rs479200 的 C 等位基因与 COVID-19 严重程度的关联:一项新发现 "的重要见解。

IF 3.8 3区 医学 Q2 GENETICS & HEREDITY Human Genomics Pub Date : 2024-05-24 DOI:10.1186/s40246-024-00618-4
Nimita Deora, Priya Agrohi, Prashant K Mallick, Abhinav Sinha
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引用次数: 0

摘要

最近,Harit 等人在《人类基因组学》(Human Genomics)杂志上发表的文章报道了人类 EGLN1 基因中的 C 等位基因 rs479200 与印度患者重度 COVID-19 的新关联。该基因是一个氧传感器基因,据报道,其 T 等位基因会因 EGLN1 基因表达的增加而导致无法应对缺氧,因此 EGLN1 rs479200 基因 TT 型的人更容易出现严重的缺氧表现。与这一教条相反,Harit 等人的研究表明,C 等位基因与 COVID-19 缺氧的恶化有关,但却没有提出甚至讨论这种关联的科学合理性。这篇文章还存在某些流行病学、统计学和数学问题,需要进行批判性的阐述和讨论。在这种情况下,可以重新评估 Harit 等人的研究结果。
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Critical insights on "Association of the C allele of rs479200 in the EGLN1 gene with COVID‑19 severity in Indian population: a novel finding".

The recent article by Harit et al. in Human Genomics reported a novel association of the C allele of rs479200 in the human EGLN1 gene with severe COVID-19 in Indian patients. The gene in context is an oxygen-sensor gene whose T allele has been reported to contribute to the inability to cope with hypoxia due to increased expression of the EGLN1 gene and therefore persons with TT genotype of EGLN1 rs479200 are more susceptible to severe manifestations of hypoxia. In contrast to this dogma, Harit et al. showed that the C allele is associated with the worsening of COVID-19 hypoxia without suggesting or even discussing the scientific plausibility of the association. The article also suffers from certain epidemiological, statistical, and mathematical issues that need to be critically elaborated and discussed. In this context, the findings of Harit et al. may be re-evaluated.

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来源期刊
Human Genomics
Human Genomics GENETICS & HEREDITY-
CiteScore
6.00
自引率
2.20%
发文量
55
审稿时长
11 weeks
期刊介绍: Human Genomics is a peer-reviewed, open access, online journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics. Topics covered by the journal include, but are not limited to: pharmacogenomics, genome-wide association studies, genome-wide sequencing, exome sequencing, next-generation deep-sequencing, functional genomics, epigenomics, translational genomics, expression profiling, proteomics, bioinformatics, animal models, statistical genetics, genetic epidemiology, human population genetics and comparative genomics.
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