Variation in ERAP2 has opposing effects on severe respiratory infection and autoimmune disease.

doi:10.1016/j.ajhg.2023.02.008

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Article

Variation in ERAP2 has opposing effects on severe respiratory infection and autoimmune disease.

American journal of human genetics - 6 Apr 2023

Hamilton Fergus, Mentzer Alexander J, Parks Tom, Baillie J Kenneth, Smith George Davey, Ghazal Peter, Timpson Nicholas J

Abstract excerpt

ERAP2 is an aminopeptidase involved in immunological antigen presentation. Genotype data in human samples from before and after the Black Death, an epidemic due to Yersinia pestis, have marked changes in allele frequency of the single-nucleotide polymorphism (SNP) rs2549794, with the T allele suggested to be deleterious during this period, while ERAP2 is also implicated in autoimmune diseases. This study explored...

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Identifiers

PMID: 36889308
DOI: 10.1016/j.ajhg.2023.02.008
PMCID: PMC10119032

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