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. 2020 Sep 25:11:564741.
doi: 10.3389/fgene.2020.564741. eCollection 2020.

Genetic Association of ACE2 rs2285666 Polymorphism With COVID-19 Spatial Distribution in India

Anshika Srivastava  1 , Audditiya Bandopadhyay  1 , Debashurti Das  1 , Rudra Kumar Pandey  1 , Vanya Singh  1 , Nargis Khanam  1 , Nikhil Srivastava  1 , Prajjval Pratap Singh  1 , Pavan Kumar Dubey  2 , Abhishek Pathak  3 , Pranav Gupta  4 , Niraj Rai  5 , Gazi Nurun Nahar Sultana  6 , Gyaneshwer Chaubey  1
Affiliations

Genetic Association of ACE2 rs2285666 Polymorphism With COVID-19 Spatial Distribution in India

Anshika Srivastava et al. Front Genet. .

Abstract

Studies on host-pathogen interaction have identified human ACE2 as a host cell receptor responsible for mediating infection by coronavirus (COVID-19). Subsequent studies have shown striking difference of allele frequency among Europeans and Asians for a polymorphism rs2285666, present in ACE2. It has been revealed that the alternate allele (TT-plus strand or AA-minus strand) of rs2285666 elevate the expression level of this gene upto 50%, hence may play a significant role in SARS-CoV-2 susceptibility. Therefore, we have first looked the phylogenetic structure of rs2285666 derived haplotypes in worldwide populations and compared the spatial frequency of this particular allele with respect to the COVID-19 infection as well as case-fatality rate in India. For the first time, we ascertained a significant positive correlation for alternate allele (T or A) of rs2285666, with the lower infection as well as case-fatality rate among Indian populations. We trust that this information will be useful to understand the role of ACE2 in COVID-19 susceptibility.

Keywords: ACE2; COVID-19; India; SARS-CoV-2; coronavirus; rs2285666.

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Figures

FIGURE 1
FIGURE 1
The median joining (MJ) network analysis constructed from haplotypes downstream to variant rs2285666. The network was constructed manually from the analysis obtained from NETWORK 5 pogramme. SEA_M, Southeast Asian Mainland; SEA_I, Southeast Asian Island. The downstream polymorphisms of CNV rs2285666 have been shown in Supplementary Table 1.
FIGURE 2
FIGURE 2
(A) The frequency (%) of allele rs2258666 among Indian populations. The gray colored areas in the map show the absence of data. (B) The statewise frequency (%) of case-fatality rate (CFR) (updated till 23rd August 2020). (C) The regression analyses showing the goodness of fit and Pearson correlation coefficient for the allele frequency and frequency of cases as well as (D) allele frequency vs. CFR (case-fatality rate) among various states of India (updated till 23rd August 2020).
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