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PreprintCC BY-NC-NDmedRxiv

A Genome-Wide Association Study in the Chilean admixed population reveals four new loci for COVID-19 severity and susceptibility

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Abstract

BackgroundMore than five years after the COVID-19 outbreak, the infection by the SARS-CoV-2 virus should still be considered as a global threat with highly heterogeneous clinical outcomes from asymptomatic to fatal depending on existing genetic and phenotypic inter-individual and inter-population variability. Our objective is to identify risk loci associated with COVID-19 in an admixed Latin American population.

MethodsWe performed a genome-wide association study in the framework of the Chilean C19-GenoNet team, analyzing a cohort of 3,417 individuals recruited from the northernmost to the southernmost regions of the country, who presented variations in the severity of their COVID-19 clinical manifestations.

ResultsOur investigation replicated the extensively reported association of several variants at the 3p21.31 locus with COVID-19 severity and found a suggestive association for a variant within the FOXP4 gene at 6p21.1 with COVID-19 hospitalization. Both associations appear to be shared with other populations. Importantly, our study identified three previously unreported loci associated with COVID-19 severity or hospitalization at 7q21.11, 16p13.12 and 6p25.3, and one additional locus at 4p13 associated with SARS-CoV-2 positivity, a proxy for infection susceptibility.

Conclusionsthese new risk loci may represent population-specific effects in Chilean and, potentially, other Latin American admixed groups. Our study highlights the importance of expanding efforts to study underrepresented and genetically different populations, which may provide new clues on the genetic basis of human diseases and may help to anticipate global responses to emerging viral infections and future pandemics.

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BibTeX
@misc{espinosaparrilla2026genomewide,
  title = {{A Genome-Wide Association Study in the Chilean admixed population reveals four new loci for COVID-19 severity and susceptibility}},
  author = {Y. Espinosa-Parrilla and M. Fuentes-Guajardo and L. Carvajal-Silva and K. Aguilar-Valdes and I. A. Signore and T. V. Arevalo and D. Zapata-Contreras and G. Donoso and P. Zuniga-Pacheco and H. Valenzuela-Jorquera and S. A. Rosso Villanelo and E. A. Tobar-Calfucoy and C. E. Yanez and F. Carvajal and J. M. Saez Hidalgo and S. Sanhueza and R. A. Quiroga and M. F. Martinez and L. C. Cerpa and N. M. Varela and C. L. Cappelli and C. P. Campillay-Veliz and B. Valdebenito-Maturana and J. Garcia-Araya and R. A. Santander and J. Opazo and R. Retamales-Ortega and P. Bocchieri and T. A. Alarcon and A. Plaza and M. Moraga and C. A. Munoz and C. A. Echeverria and Dorador},
  howpublished = {medRxiv},
  year = {2026},
  month = oct,
  doi = {10.64898/2026.10.13.26365424},
  url = {https://www.medrxiv.org/content/10.64898/2026.10.13.26365424v1},
  note = {CC BY-NC-ND},
}
RIS
TY  - UNPB
TI  - A Genome-Wide Association Study in the Chilean admixed population reveals four new loci for COVID-19 severity and susceptibility
AU  - Y. Espinosa-Parrilla
AU  - M. Fuentes-Guajardo
AU  - L. Carvajal-Silva
AU  - K. Aguilar-Valdes
AU  - I. A. Signore
AU  - T. V. Arevalo
AU  - D. Zapata-Contreras
AU  - G. Donoso
AU  - P. Zuniga-Pacheco
AU  - H. Valenzuela-Jorquera
AU  - S. A. Rosso Villanelo
AU  - E. A. Tobar-Calfucoy
AU  - C. E. Yanez
AU  - F. Carvajal
AU  - J. M. Saez Hidalgo
AU  - S. Sanhueza
AU  - R. A. Quiroga
AU  - M. F. Martinez
AU  - L. C. Cerpa
AU  - N. M. Varela
AU  - C. L. Cappelli
AU  - C. P. Campillay-Veliz
AU  - B. Valdebenito-Maturana
AU  - J. Garcia-Araya
AU  - R. A. Santander
AU  - J. Opazo
AU  - R. Retamales-Ortega
AU  - P. Bocchieri
AU  - T. A. Alarcon
AU  - A. Plaza
AU  - M. Moraga
AU  - C. A. Munoz
AU  - C. A. Echeverria
AU  - Dorador
PY  - 2026
DA  - 2026/10/13
PB  - medRxiv
DO  - 10.64898/2026.10.13.26365424
UR  - https://www.medrxiv.org/content/10.64898/2026.10.13.26365424v1
AB  - BackgroundMore than five years after the COVID-19 outbreak, the infection by the SARS-CoV-2 virus should still be considered as a global threat with highly heterogeneous clinical outcomes from asymptomatic to fatal depending on existing genetic and phenotypic inter-individual and inter-population variability. Our objective is to identify risk loci associated with COVID-19 in an admixed Latin American population.  MethodsWe performed a genome-wide association study in the framework of the Chilean C19-GenoNet team, analyzing a cohort of 3,417 individuals recruited from the northernmost to the southernmost regions of the country, who presented variations in the severity of their COVID-19 clinical manifestations.  ResultsOur investigation replicated the extensively reported association of several variants at the 3p21.31 locus with COVID-19 severity and found a suggestive association for a variant within the FOXP4 gene at 6p21.1 with COVID-19 hospitalization. Both associations appear to be shared with other populations. Importantly, our study identified three previously unreported loci associated with COVID-19 severity or hospitalization at 7q21.11, 16p13.12 and 6p25.3, and one additional locus at 4p13 associated with SARS-CoV-2 positivity, a proxy for infection susceptibility.  Conclusionsthese new risk loci may represent population-specific effects in Chilean and, potentially, other Latin American admixed groups. Our study highlights the importance of expanding efforts to study underrepresented and genetically different populations, which may provide new clues on the genetic basis of human diseases and may help to anticipate global responses to emerging viral infections and future pandemics.
ER  -