Complex genetic signatures in immune cells underlie autoimmunity and inform therapy.

doi:10.1038/s41588-020-0684-4

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Article

Complex genetic signatures in immune cells underlie autoimmunity and inform therapy.

Nature genetics - 1 Oct 2020

Orrù Valeria, Steri Maristella, Sidore Carlo, Marongiu Michele, Serra Valentina, Olla Stefania, Sole Gabriella, Lai Sandra, Dei Mariano, Mulas Antonella, Virdis Francesca, Piras Maria Grazia, Lobina Monia, Marongiu Mara, Pitzalis Maristella, Deidda Francesca, Loizedda Annalisa, Onano Stefano, Zoledziewska Magdalena, Sawcer Stephen, Devoto Marcella, Gorospe Myriam, Abecasis Gonçalo R, Floris Matteo, Pala Mauro, Schlessinger David, Fiorillo Edoardo, Cucca Francesco

Abstract excerpt

We report on the influence of ~22 million variants on 731 immune cell traits in a cohort of 3,757 Sardinians. We detected 122 significant (P < 1.28 × 10-11) independent association signals for 459 cell traits at 70 loci (53 of them novel) identifying several molecules and mechanisms involved in cell regulation. Furthermore, 53 signals at 36 loci overlapped with previously reported disease-associated signals,...

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Identifiers

PMID: 32929287
DOI: 10.1038/s41588-020-0684-4
PMCID: PMC8517961

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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