| Literature DB >> 32929287 |
Valeria Orrù1, Maristella Steri1, Carlo Sidore1, Michele Marongiu1, Valentina Serra1, Stefania Olla1, Gabriella Sole1, Sandra Lai1, Mariano Dei1, Antonella Mulas1, Francesca Virdis1, Maria Grazia Piras1, Monia Lobina1, Mara Marongiu1, Maristella Pitzalis1, Francesca Deidda1, Annalisa Loizedda1, Stefano Onano1,2, Magdalena Zoledziewska1, Stephen Sawcer3, Marcella Devoto4,5, Myriam Gorospe6, Gonçalo R Abecasis7, Matteo Floris1,2, Mauro Pala1, David Schlessinger6, Edoardo Fiorillo1, Francesco Cucca8,9.
Abstract
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, predominantly for autoimmune disorders, highlighting intermediate phenotypes in pathogenesis. Collectively, our findings illustrate complex genetic regulation of immune cells with highly selective effects on autoimmune disease risk at the cell-subtype level. These results identify drug-targetable pathways informing the design of more specific treatments for autoimmune diseases.Entities:
Mesh：
Year: 2020 PMID： 32929287 PMCID： PMC8517961 DOI： 10.1038/s41588-020-0684-4
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330