| Literature DB >> 25772697 |
Mario Roederer1, Lydia Quaye2, Massimo Mangino3, Margaret H Beddall4, Yolanda Mahnke4, Pratip Chattopadhyay4, Isabella Tosi5, Luca Napolitano6, Manuela Terranova Barberio6, Cristina Menni2, Federica Villanova5, Paola Di Meglio6, Tim D Spector7, Frank O Nestle5.
Abstract
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.Entities:
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Year: 2015 PMID： 25772697 PMCID： PMC4393780 DOI： 10.1016/j.cell.2015.02.046
Source DB: PubMed Journal: Cell ISSN： 0092-8674 Impact factor: 41.582