Genetic Variants Regulating Immune Cell Levels in Health and Disease | Zendy

Valeria Orrù | Zendy; Maristella Steri | Zendy; Gabriella Sole | Zendy; Carlo Sidore | Zendy; Francesca Virdis | Zendy; Mariano Dei | Zendy; Sandra Lai | Zendy; Magdalena Żołędziewska | Zendy; Fabio Busonero | Zendy; Antonella Mulas | Zendy; Matteo Floris | Zendy; Wieslawa I. Mentzen | Zendy; Silvana Anna Maria Urru | Zendy; Stefania Olla | Zendy; Michele Marongiu | Zendy; Maria Grazia Piras | Zendy; Monia Lobina | Zendy; Andrea Maschio | Zendy; Maristella Pitzalis | Zendy; Maria Francesca Urru | Zendy; Marco Marcelli | Zendy; Roberto Cusano | Zendy; Francesca Deidda | Zendy; Valentina Serra | Zendy; Manuela Oppo | Zendy; Rosella Pilu | Zendy; Frédéric Reinier | Zendy; Riccardo Berutti | Zendy; Luca Pireddu | Zendy; Ilenia Zara | Zendy; Eleonora Porcu | Zendy; Alan Kwong | Zendy; Christine Brennan | Zendy; Brendan Tarrier | Zendy; Robert Lyons | Zendy; Hyun Min Kang | Zendy; Sergio Uzzau | Zendy; Rossano Atzeni | Zendy; Maria Consuelo Valentini | Zendy; Davide Firinu | Zendy; Lidia Leoni | Zendy; Gianluca Rotta | Zendy; Silvia Naitza | Zendy; Andrea Angius | Zendy; Mauro Congia | Zendy; Michael B. Whalen | Zendy; Chris M. Jones | Zendy; David Schlessinger | Zendy; Gonçalo R. Abecasis | Zendy; Edoardo Fiorillo | Zendy; Serena Sanna | Zendy; Francesco Cucca | Zendy

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Genetic Variants Regulating Immune Cell Levels in Health and Disease

Author(s) -

Valeria Orrù,

Maristella Steri,

Gabriella Sole,

Carlo Sidore,

Francesca Virdis,

Mariano Dei,

Sandra Lai,

Magdalena Żołędziewska,

Fabio Busonero,

Antonella Mulas,

Matteo Floris,

Wieslawa I. Mentzen,

Silvana Anna Maria Urru,

Stefania Olla,

Michele Marongiu,

Maria Grazia Piras,

Monia Lobina,

Andrea Maschio,

Maristella Pitzalis,

Maria Francesca Urru,

Marco Marcelli,

Roberto Cusano,

Francesca Deidda,

Valentina Serra,

Manuela Oppo,

Rosella Pilu,

Frédéric Reinier,

Riccardo Berutti,

Luca Pireddu,

Ilenia Zara,

Eleonora Porcu,

Alan Kwong,

Christine Brennan,

Brendan Tarrier,

Robert Lyons,

Hyun Min Kang,

Sergio Uzzau,

Rossano Atzeni,

Maria Consuelo Valentini,

Davide Firinu,

Lidia Leoni,

Gianluca Rotta,

Silvia Naitza,

Andrea Angius,

Mauro Congia,

Michael B. Whalen,

Chris M. Jones,

David Schlessinger,

Gonçalo R. Abecasis,

Edoardo Fiorillo,

Serena Sanna,

Francesco Cucca

Publication year - 2013

Publication title -

cell

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 26.304

H-Index - 776

eISSN - 1097-4172

pISSN - 0092-8674

DOI - 10.1016/j.cell.2013.08.041

Subject(s) - biology , immune system , disease , genetics , cell , computational biology , evolutionary biology , medicine , pathology

The complex network of specialized cells and molecules in the immune system has evolved to defend against pathogens, but inadvertent immune system attacks on "self" result in autoimmune disease. Both genetic regulation of immune cell levels and their relationships with autoimmunity are largely undetermined. Here, we report genetic contributions to quantitative levels of 95 cell types encompassing 272 immune traits, in a cohort of 1,629 individuals from four clustered Sardinian villages. We first estimated trait heritability, showing that it can be substantial, accounting for up to 87% of the variance (mean 41%). Next, by assessing ∼8.2 million variants that we identified and confirmed in an extended set of 2,870 individuals, 23 independent variants at 13 loci associated with at least one trait. Notably, variants at three loci (HLA, IL2RA, and SH2B3/ATXN2) overlap with known autoimmune disease associations. These results connect specific cellular phenotypes to specific genetic variants, helping to explicate their involvement in disease.

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