학술논문
A GWAS in the pandemic epicenter highlights the severe COVID-19 risk locus introgressed by Neanderthals
Document Type
article
Author
Matteo Breno; Marina Noris; Nadia Rubis; Aneliya Ilieva Parvanova; Davide Martinetti; Sara Gamba; Lucia Liguori; Caterina Mele; Rossella Piras; Silvia Orisio; Elisabetta Valoti; Marta Alberti; Olimpia Diadei; Elena Bresin; Miriam Rigoldi; Silvia Prandini; Tiziano Gamba; Nadia Stucchi; Fabiola Carrara; Erica Daina; Ariela Benigni; Giuseppe Remuzzi
Source
iScience, Vol 26, Iss 10, Pp 107629- (2023)
Subject
Language
English
ISSN
2589-0042
Abstract
Summary: Large GWAS indicated that genetic factors influence the response to SARS-CoV-2. However, sex, age, concomitant diseases, differences in ancestry, and uneven exposure to the virus impacted the interpretation of data. We aimed to perform a GWAS of COVID-19 outcome in a homogeneous population who experienced a high exposure to the virus and with a known infection status. We recruited inhabitants of Bergamo province—that in spring 2020 was the epicenter of the SARS-Cov-2 pandemic in Europe—via an online questionnaire followed by personal interviews. Cases and controls were matched by age, sex and risk factors. We genotyped 1195 individuals and replicated the association at the 3p21.31 locus with severity, but with a stronger effect size that further increased in gravely ill patients. Transcriptome-wide association study highlighted eQTLs for LZTFL1 and CCR9. We also identified 17 loci not previously reported, suggestive for an association with either COVID-19 severity or susceptibility.