María Fernanda López-Bielma, Ramcés Falfán-Valencia, Aurelio Fierro-Piña, Edgar Abarca-Rojano, Elizabeth Córdoba-Lanus, Ingrid Fricke-Galindo, Priscila Romero-Villaseñor, Ivette Buendía-Roldán, Leslie Chávez-Galán, María Esther Jaime-Capetillo, Gloria Pérez-Rubio
INTRODUCTION: The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the causative agent of Coronavirus Disease 2019 (COVID-19). The disease has a wide range of clinical manifestations, from asymptomatic to severe. Ancestral contribution, sex, immune response, and genetic factors influence the presentation of the disease. The objective of the present study was to validate these genetic variants in patients with severe COVID-19 who died and in survivor patients. Methods: Single nucleotide variants (SNVs) in six genes: ATPase plasma membrane Ca2+ transporting 2 ( ATP2B2), transmembrane serine protease 2 (TMPRSS2), dedicator of cytokinesis 2 (DOCK2), (interferon alpha and beta receptor subunit 2) IFNAR2, tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), and tumor necrosis factor receptor superfamily, member 1B ( TNFRSF1B) , were explored in two groups: the first consisted of severe COVID-19-related patients (familial cases from 58 families, n = 130), and the second group of unrelated severe COVID-19 patients (n = 1045)...
April 30, 2024: Heliyon