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The Genetic Architecture of the Human Immune System: A Bioresource for Autoimmunity and Disease Pathogenesis

Research output: Contribution to journalArticle

Mario Roederer, Lydia Quaye, Massimo Mangino, Margaret H Beddall, Yolanda Mahnke, Pratip Chattopadhyay, Isabella Tosi, Luca Napolitano, Manuela Terranova Barberio, Cristina Menni, Federica Villanova, Paola Di Meglio, Tim D Spector, Frank O Nestle

Original languageEnglish
Number of pages17
Issue number2
Early online date12 Mar 2015
Publication statusPublished - 9 Apr 2015


  • The genetic architecture of the_ROEDERER_Accepted 4Feb2015_GREEN AAM

    The_genetic_architecture_of_the_ROEDERER_Accepted_4Feb2015_GREEN_AAM.pdf, 2.52 MB, application/pdf


    Accepted author manuscript


    © 2016. This manuscript version is made available under the CC-BY-NC-ND 4.0 license

King's Authors


Despite recent discoveries of genetic variants associated with autoimmunity and infection, genetic control of the human immune system during homeostasis is poorly understood. We undertook a comprehensive immunophenotyping approach, analyzing 78,000 immune traits in 669 female twins. From the top 151 heritable traits (up to 96% heritable), we used replicated GWAS to obtain 297 SNP associations at 11 genetic loci, explaining up to 36% of the variation of 19 traits. We found multiple associations with canonical traits of all major immune cell subsets and uncovered insights into genetic control for regulatory T cells. This data set also revealed traits associated with loci known to confer autoimmune susceptibility, providing mechanistic hypotheses linking immune traits with the etiology of disease. Our data establish a bioresource that links genetic control elements associated with normal immune traits to common autoimmune and infectious diseases, providing a shortcut to identifying potential mechanisms of immune-related diseases.

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