Chromatin activity at GWAS loci identifies T cell states driving complex immune diseases

Blagoje Soskic, Eddie Cano-Gamez, Deborah J. Smyth, Wendy C. Rowan, Nikolina Nakic, Jorge Esparza-Gordillo, Lara Bossini-Castillo, David F. Tough, Christopher G. C. Larminie, Paola G. Bronson, David Willé & Gosia Trynka.
Nature Genetics. 2019-9-23;51:1486–1493.
Abstract
Immune-disease-associated variants are enriched in active chromatin regions of T cells and macrophages. However, whether these variants function in specific cell states is unknown. Here we stimulated T cells and macrophages in the presence of 13 cytokines and profiled active and open chromatin regions. T cell activation induced major chromatin remodeling, while the presence of cytokines fine-tuned the magnitude of changes. We developed a statistical method that accounts for subtle changes in the chromatin landscape to identify SNP enrichment across cell states. Our results point towards the role of immune-disease-associated variants in early rather than late activation of memory CD4+ T cells, with modest differences across cytokines. Furthermore, variants associated with inflammatory bowel disease are enriched in type 1 T helper (TH1) cells, whereas variants associated with Alzheimer’s disease are enriched in different macrophage cell states. Our results represent an in-depth analysis of immune-disease-associated variants across a comprehensive panel of activation states of T cells and macrophages.
Consortium data used in this publication
ATAC-seq: EGAS00001003501; H3K27ac: EGAS00001002749
Datasets
DSR635MPW, DSR175BHN, DSR091EHR, DSR569SMG, DSR670HLZ, DSR385RBR, DSR357SSF, DSR312KJD, DSR389ARJ, DSR438DZY, DSR771YJD, DSR388DTJ, DSR379KAZ, DSR595CRI, DSR205VKL, DSR218CVO, DSR090BHY, DSR273HMQ, DSR445OJG, DSR595RJZ, DSR981HFQ, DSR187VES, DSR109LNN, DSR599QYF, DSR357BAD, DSR278DAU, DSR797DLL, DSR540FCW, DSR474WZB, DSR527QSP, DSR633BOI, DSR301SBT, DSR363BEM, DSR556QBQ, DSR251UQX, DSR556GSU, DSR314OSF, DSR999CYT, DSR978EZR, DSR219WDW, DSR088HGB, DSR170PAX, DSR861WEB, DSR564SXP, DSR250YOF, DSR491OZE, DSR005JUP, DSR782INO, DSR759IVM, DSR139MNQ, DSR918MVB, DSR793OTH, DSR060SQK, DSR154SYT, DSR616NJF, DSR738JIP, DSR862EWK, DSR559VCR, DSR374HIO, DSR734QNA, DSR333WAS, DSR462TOM, DSR692KOA, DSR088AIJ, DSR876MUU, DSR160CDF, DSR973CTB, DSR308AYD, DSR975OAF, DSR332EPW, DSR599GJL, DSR122IAA, DSR258QDL, DSR585WBF, DSR396PZA, DSR026SKX, DSR965CLE, DSR880RHX, DSR313CSC, DSR023ZPD, DSR650AME, DSR911ZMH, DSR224KYT, DSR131IUH, DSR296MCB, DSR561UPU, DSR700APQ, DSR827OPP, DSR177WMK, DSR579XCD, DSR074YJV, DSR980OUB, DSR997WOC, DSR462VPA, DSR719BCU, DSR978QZC, DSR195ELE, DSR332YVR, DSR772JZF, DSR746XRA, DSR723FAX, DSR634VEB, DSR920RWG, DSR250CPX, DSR885VKD, DSR997NEY, DSR963RVA, DSR673ZVL, DSR430FNW, DSR533HZD