Cited by 301Genetic Associations and EpidemiologyT-cell and B-cell ImmunologyMultiple Sclerosis Research Studies

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

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Roederer, Mario, Quaye, Lydia, Mangino, Massimo, Beddall, Margaret H., Mahnke, Yolanda, Chattopadhyay, Pratip, Tosi, Isabella, Napolitano, Luca, Terranova Barberio, Manuela, Menni, Cristina, Villanova, Federica, Di Meglio, Paola, Spector, Tim D., Nestle, Frank O.·2015·Cell

DOI 10.1016/j.cell.2015.02.046PMC PMC4393780

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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.

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Burren, O. S., Reales, G., Wong, L., Bowes, J., Lee, J. C., Barton, A. C., Lyons, P. A., Smith, K. G. C., Thomson, W., Kirk, P., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13291234
Additional file 1 of Characterization of large-scale genomic differences in the first complete human genome
Yang, X., Wang, X., Zou, Y., Zhang, S., Xia, M., Fu, L., Vollger, M. R., Chen, N.-C., Taylor, D. J., Harvey, W. T., et al. (2023) · Figshare · doi:10.6084/m9.figshare.23625384
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Additional file 3 of Genetic feature engineering enables characterisation of shared risk factors in immune-mediated diseases
Burren, O. S., Reales, G., Wong, L., Bowes, J., Lee, J. C., Barton, A. C., Lyons, P. A., Smith, K. G. C., Thomson, W., Kirk, P., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13291240
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Additional file 3 of Characterization of large-scale genomic differences in the first complete human genome
Yang, X., Wang, X., Zou, Y., Zhang, S., Xia, M., Fu, L., Vollger, M. R., Chen, N.-C., Taylor, D. J., Harvey, W. T., et al. (2023) · Figshare · doi:10.6084/m9.figshare.23625390
Additional file 4 of Genetic feature engineering enables characterisation of shared risk factors in immune-mediated diseases
Burren, O. S., Reales, G., Wong, L., Bowes, J., Lee, J. C., Barton, A. C., Lyons, P., Smith, K. G. C., Thomson, W., Kirk, P., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13291243
Additional file 2 of Relationships between circulating metabolites and facial skin aging: a Mendelian randomization study
Liu, Z., Mi, J., & Wu, H. (2024) · Figshare · doi:10.6084/m9.figshare.26575667
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Authors: Roederer, M., Quaye, L., Mangino, M., Beddall, M. H., Mahnke, Y., Chattopadhyay, P., Tosi, I., Napolitano, L., Terranova Barberio, M., Menni, C., Villanova, F., Di Meglio, P., Spector, T. D., & Nestle, F. O.
Affiliations: National Institutes of Health (US)
King's College London (GB)
St Thomas' Hospital (GB)
Corresponding author: Roederer, Mario
Spector, Tim D.
ORCID: Roederer, Mario
Mangino, Massimo
Beddall, Margaret H.
Mahnke, Yolanda
Chattopadhyay, Pratip
Tosi, Isabella
Menni, Cristina
Spector, Tim D.
Nestle, Frank O.
Venue: Cell
Publisher: Elsevier BV
Published: 2015-04
Volume: 161
Issue: 2
Pages: 387-403
ISSN: 0092-8674 (ISSN-L)
DOI: 10.1016/j.cell.2015.02.046
PMC: PMC4393780
OpenAlex: W2080215939
Cited by: 296
References: 63
Citations by year: 2026: 11 · 2025: 17 · 2024: 27 · 2023: 26 · 2022: 29 · 2021: 27 · 2020: 38 · 2019: 29 · 2018: 31 · 2017: 22 · 2016: 29 · 2015: 10
FWCI: 20.95
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 374 d)
Locations: Cell (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Research Portal (King's College London) (submittedVersion, cc-by-nc-nd)
Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano) (submittedVersion, other-oa)
Funders: Wellcome Trust
National Institute for Health and Care Research (NF-SI-0514-10027)
King's College London
National Institutes of Health (Z99 AI999999)
Medical Research Council (MR/J006742/1)
National Institute of Allergy and Infectious Diseases (ZIAAI005021, ZIAAI005020)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Immunology and Microbiology › Immunology › T-cell and B-cell Immunology
Health Sciences › Medicine › Clinical Neurology › Multiple Sclerosis Research Studies
Keywords: immune traits, heritability, immune cell subsets, regulatory T cells, autoimmune disease susceptibility, infection susceptibility, genetic loci, single nucleotide polymorphisms, twin studies, immunophenotyping, pathogenesis
MeSH terms: Adult, Aged, Autoimmune Diseases, Female, Humans, Immune System Diseases, Leukocytes, Middle Aged, Immunophenotyping, Receptors, IgG, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, T-Lymphocytes, Regulatory, Genome-Wide Association Study

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

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