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Huffman JE, Butler-Laporte G, Khan A, Pairo-Castineira E, Drivas TG, Peloso GM, Nakanishi T, COVID-19 Host Genetics Initiative , Ganna A, Verma A, Baillie JK, Kiryluk K, Richards JB, Zeberg H
Nat Genet - (-) - [2022-01-13; online 2022-01-13]
The OAS1/2/3 cluster has been identified as a risk locus for severe COVID-19 among individuals of European ancestry, with a protective haplotype of approximately 75 kilobases (kb) derived from Neanderthals in the chromosomal region 12q24.13. This haplotype contains a splice variant of OAS1, which occurs in people of African ancestry independently of gene flow from Neanderthals. Using trans-ancestry fine-mapping approaches in 20,779 hospitalized cases, we demonstrate that this splice variant is likely to be the SNP responsible for the association at this locus, thus strongly implicating OAS1 as an effector gene influencing COVID-19 severity.
Category: Genomics & transcriptomics
PubMed 35027740
DOI 10.1038/s41588-021-00996-8
Crossref 10.1038/s41588-021-00996-8
pii: 10.1038/s41588-021-00996-8
https://doi.org/10.5281/zenodo.5708333
https://www.covid19hg.org/results/r6/
https://cadd.gs.washington.edu/score
https://www.internationalgenome.org/data