Expression quantitative trait locus fine mapping of the 17q12–21 asthma locus in African American children: a genetic association and gene expression study

Lancet Respiratory Medicine,The - Tập 8 - Trang 482-492 - 2020
Carole Ober1, Chris G McKennan2, Kevin M Magnaye1, Matthew C Altman3, Charles Washington1, Catherine Stanhope1, Katherine A Naughton1, Mario G Rosasco4, Leonard B Bacharier5, Dean Billheimer6,7, Diane R Gold8,9, Lisa Gress10, Tina Hartert11, Suzanne Havstad12, Gurjit K Khurana Hershey13, Brian Hallmark6,14, D Kyle Hogarth15, Daniel J Jackson10, Christine C Johnson12, Meyer Kattan16
1Department of Human Genetics, University of Chicago, Chicago, IL, USA
2Department of Statistics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
3Division of Allergy and Infectious Diseases, Department of Medicine, University of Washington, Seattle, WA, USA
4Systems Immunology Program, Benaroya Research Institute, Seattle, WA, USA
5Division of Pediatric Allergy, Immunology and Pulmonary Medicine, Department of Pediatrics, Washington University and St Louis Children's Hospital, St Louis, MO, USA
6College of Public Health, University of Arizona, Tucson, AZ, USA
7Bio5 Institute, University of Arizona, Tucson, AZ, USA
8The Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA
9Department of Environmental Health, Harvard T.H. Chan School of Public Health, Boston, MA, USA
10Department of Pediatrics University of Wisconsin School of Medicine and Public Health Madison WI USA
11Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA
12Department of Public Health Sciences, Henry Ford Health System, Detroit, MI, USA
13Division of Asthma Research, Cincinnati Children's Hospital and Department of Pediatrics, University of Cincinnati, Cincinnati, OH, USA
14BIO5 Institute, University of Arizona, Tucson, AZ, USA
15Section of Pulmonary and Critical Care Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA
16Department of Pediatrics, Columbia University Medical Center, New York, NY, USA

Tài liệu tham khảo

Urquhart, 2019, US racial/ethnic disparities in childhood asthma emergent health care use: National Health Interview Survey, 2013–2015, J Asthma Zahran, 2018, Vital signs: asthma in children—United States, 2001-2016, MMWR Morb Mortal Wkly Rep, 67, 149, 10.15585/mmwr.mm6705e1 Naqvi, 2008, Inhaled corticosteroids and augmented bronchodilator responsiveness in Latino and African American asthmatic patients, Ann Allergy Asthma Immunol, 100, 551, 10.1016/S1081-1206(10)60055-5 Neophytou, 2016, Air pollution and lung function in minority youth with asthma in the GALA II (Genes-Environments and Admixture in Latino Americans) and SAGE II (Study of African Americans, Asthma, Genes, and Environments) studies, Am J Respir Crit Care Med, 193, 1271, 10.1164/rccm.201508-1706OC Moffatt, 2010, A large-scale, consortium-based genomewide association study of asthma, N Engl J Med, 363, 1211, 10.1056/NEJMoa0906312 Moffatt, 2007, Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma, Nature, 448, 470, 10.1038/nature06014 Torgerson, 2011, Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations, Nat Genet, 43, 887, 10.1038/ng.888 Demenais, 2018, Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks, Nat Genet, 50, 42, 10.1038/s41588-017-0014-7 Pividori, 2019, Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies, Lancet Respir Med, 7, 509, 10.1016/S2213-2600(19)30055-4 Dahlin, 2019, Large-scale, multiethnic genome-wide association study identifies novel loci contributing to asthma susceptibility in adults, J Allergy Clin Immunol, 143, 1633, 10.1016/j.jaci.2018.11.037 Daya, 2019, Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations, Nat Commun, 10, 880, 10.1038/s41467-019-08469-7 Mathias, 2010, A genome-wide association study on African-ancestry populations for asthma, J Allergy Clin Immunol, 125, 336, 10.1016/j.jaci.2009.08.031 Sleiman, 2010, Variants of DENND1B associated with asthma in children, N Engl J Med, 362, 36, 10.1056/NEJMoa0901867 White, 2016, Novel genetic risk factors for asthma in African American children: precision medicine and the SAGE II study, Immunogenetics, 68, 391, 10.1007/s00251-016-0914-1 Stein, 2018, A decade of research on the 17q12–21 asthma locus: piecing together the puzzle, J Allergy Clin Immunol, 142, 749, 10.1016/j.jaci.2017.12.974 Gern, 2019, The Children's Respiratory and Environmental Workgroup (CREW) birth cohort consortium: design, methods, and study population, Respir Res, 20, 115, 10.1186/s12931-019-1088-9 Nicodemus-Johnson, 2016, DNA methylation in lung cells is associated with asthma endotypes and genetic risk, JCI Insight, 1, 10.1172/jci.insight.90151 Bouzigon, 2008, Effect of 17q21 variants and smoking exposure in early-onset asthma, N Engl J Med, 359, 1985, 10.1056/NEJMoa0806604 Calışkan, 2013, Rhinovirus wheezing illness and genetic risk of childhood-onset asthma, N Engl J Med, 368, 1398, 10.1056/NEJMoa1211592 Loss, 2016, The early development of wheeze. Environmental determinants and genetic susceptibility at 17q21, Am J Respir Crit Care Med, 193, 889, 10.1164/rccm.201507-1493OC Bonnelykke, 2014, A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations, Nat Genet, 46, 51, 10.1038/ng.2830 Altman, 2018, Allergen-induced activation of natural killer cells represents an early-life immune response in the development of allergic asthma, J Allergy Clin Immunol, 142, 1856, 10.1016/j.jaci.2018.02.019 McKennan, 2019, Accounting for unobserved covariates with varying degrees of estimability in high-dimensional biological data, Biometrika, 106, 823, 10.1093/biomet/asz037 Verlaan, 2009, Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease, Am J Hum Genet, 85, 377, 10.1016/j.ajhg.2009.08.007 Schmiedel, 2016, 17q21 asthma-risk variants switch CTCF binding and regulate IL-2 production by T cells, Nat Commun, 7, 10.1038/ncomms13426 Hao, 2012, Lung eQTLs to help reveal the molecular underpinnings of asthma, PLoS Genet, 8, 10.1371/annotation/80d53ac6-4f5d-4c34-b92b-3fec00d514ac Battle, 2017, Genetic effects on gene expression across human tissues, Nature, 550, 204, 10.1038/nature24277 Man, 2017, Molecular mechanisms and functions of pyroptosis, inflammatory caspases and inflammasomes in infectious diseases, Immunol Rev, 277, 61, 10.1111/imr.12534 Chen, 2019, GSDMB promotes non-canonical pyroptosis by enhancing caspase-4 activity, J Mol Cell Biol, 11, 496, 10.1093/jmcb/mjy056 Morrison, 2013, The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts, BMC Genomics, 14, 627, 10.1186/1471-2164-14-627 van der Valk, 2012, Interaction of a 17q12 variant with both fetal and infant smoke exposure in the development of childhood asthma-like symptoms, Allergy, 67, 767, 10.1111/j.1398-9995.2012.02819.x Stokholm, 2018, Cat exposure in early life decreases asthma risk from the 17q21 high-risk variant, J Allergy Clin Immunol, 141, 1598, 10.1016/j.jaci.2017.07.044 O'Connor, 2018, Early-life home environment and risk of asthma among inner-city children, J Allergy Clin Immunol, 141, 1468, 10.1016/j.jaci.2017.06.040