Department of Epidemiology, ICMR-National Institute of Malaria Research, New Delhi, 110077, India.
Department of Molecular Biology, ICMR-National Institute of Malaria Research, New Delhi, 110077, India.
Hum Genomics. 2024 May 24;18(1):52. doi: 10.1186/s40246-024-00618-4.
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.
最近,Harit 等人在《人类基因组学》上发表的一篇文章报道了人类 EGLN1 基因中 rs479200 的 C 等位基因与印度 COVID-19 重症患者之间存在新的关联。该基因是一个氧传感器基因,其 T 等位基因已被报道由于 EGLN1 基因表达增加而导致无法应对缺氧,因此 EGLN1 rs479200 的 TT 基因型的人更容易出现严重的缺氧表现。与这一教条相反,Harit 等人表明,C 等位基因与 COVID-19 缺氧恶化有关,而没有暗示甚至讨论这种关联的科学合理性。该文章还存在一些流行病学、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,Harit 等人的发现可能需要重新评估。