SOUTHERN JOURNAL OF SCIENCES

Abstract:
Background: Coronavirus Disease-2019 (COVID-19) appears in individuals asymptomatically and in various symptomatic forms. Symptomatic diversity can result in diagnosis failures, hospitalization, admission to intensive care, multi-organ failure, and death. The causes and risk factors of the severity of disease symptoms are uncertain. This uncertainty can only be resolved by elucidating the effects of host genes and genetic variations on different phenotypes. Aim: This review aimed to emphasize the importance of large-scale genotype-phenotype correlation studies in elucidating the phenotypic diversity in COVID-19 disease. Methods: All publications related to Phenome-Wide Association Study (PheWAS) in the PubMed database were searched. PheWAS studies applied to COVID-19 patients have been identified. In addition, studies applied to the genome-wide association study (GWAS)- Electronic health records (EHRs) data and additionally matched to the gene expression data were systematically reviewed. The latest PheWAS methodology and its importance in Large-scale genotype-phenotype correlations are discussed within the context of published COVID-19 studies. Results: According to our PubMed search data, there are few PheWAS studies on COVID-19 disease. This review explains the use of PheWAS studies applied to health records and GWAS data, and colocalization studies applied to expression quantitative trait locus (eQTL) analysis to understand the phenotypic variability of COVID-19. Discussion; Although there is a very limited number of PheWAS studies on COVID-19 diseases, these studies have obtained important data. At the current stage, there is a need for such studies in COVID-19 research. Conclusions: PheWAS is an ideal method for large-scale genotype-phenotype correlation studies that can reveal genetic diversity and phenotypic diversity in the pathophysiology of the disease.

Link: Open
DOI: 10.48141/SJS.v30.n34.2022.04_ATÇEKEN_pgs_32_46.pdf