Gene–environment interactions and their impact on human health

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Abstract

The molecular processes underlying human health and disease are highly complex. Often, genetic and environmental factors contribute to a given disease or phenotype in a non-additive manner, yielding a gene–environment (G × E) interaction. In this work, we broadly review current knowledge on the impact of gene–environment interactions on human health. We first explain the independent impact of genetic variation and the environment. We next detail well-established G × E interactions that impact human health involving environmental toxicants, pollution, viruses, and sex chromosome composition. We conclude with possibilities and challenges for studying G × E interactions.

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Most cited references 193

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Sex differences in immune responses

Sabra L. Klein, Katie Flanagan (2016)

Males and females differ in their immunological responses to foreign and self-antigens and show distinctions in innate and adaptive immune responses. Certain immunological sex differences are present throughout life, whereas others are only apparent after puberty and before reproductive senescence, suggesting that both genes and hormones are involved. Furthermore, early environmental exposures influence the microbiome and have sex-dependent effects on immune function. Importantly, these sex-based immunological differences contribute to variations in the incidence of autoimmune diseases and malignancies, susceptibility to infectious diseases and responses to vaccines in males and females. Here, we discuss these differences and emphasize that sex is a biological variable that should be considered in immunological studies.

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The GTEx Consortium atlas of genetic regulatory effects across human tissues

(2020)

The Genotype-Tissue Expression (GTEx) project was established to characterize genetic effects on the transcriptome across human tissues and to link these regulatory mechanisms to trait and disease associations. Here, we present analyses of the version 8 data, examining 15,201 RNA-sequencing samples from 49 tissues of 838 postmortem donors. We comprehensively characterize genetic associations for gene expression and splicing in cis and trans, showing that regulatory associations are found for almost all genes, and describe the underlying molecular mechanisms and their contribution to allelic heterogeneity and pleiotropy of complex traits. Leveraging the large diversity of tissues, we provide insights into the tissue specificity of genetic effects and show that cell type composition is a key factor in understanding gene regulatory mechanisms in human tissues.

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Is Open Access

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

Annalisa Buniello, Jacqueline A L MacArthur, Maria Cerezo … (2018)

Abstract The GWAS Catalog delivers a high-quality curated collection of all published genome-wide association studies enabling investigations to identify causal variants, understand disease mechanisms, and establish targets for novel therapies. The scope of the Catalog has also expanded to targeted and exome arrays with 1000 new associations added for these technologies. As of September 2018, the Catalog contains 5687 GWAS comprising 71673 variant-trait associations from 3567 publications. New content includes 284 full P-value summary statistics datasets for genome-wide and new targeted array studies, representing 6 × 109 individual variant-trait statistics. In the last 12 months, the Catalog's user interface was accessed by ∼90000 unique users who viewed >1 million pages. We have improved data access with the release of a new RESTful API to support high-throughput programmatic access, an improved web interface and a new summary statistics database. Summary statistics provision is supported by a new format proposed as a community standard for summary statistics data representation. This format was derived from our experience in standardizing heterogeneous submissions, mapping formats and in harmonizing content. Availability: https://www.ebi.ac.uk/gwas/.

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Author and article information

Contributors

Matthew T. Weirauch:

ORCID: http://orcid.org/0000-0001-7977-9122

Matthew.Weirauch@cchmc.org

Leah C. Kottyan:

ORCID: http://orcid.org/0000-0003-3979-2220

Leah.Kottyan@cchmc.org

Journal

Journal ID (nlm-ta): Genes Immun

Journal ID (iso-abbrev): Genes Immun

Title: Genes and Immunity

Publisher: Nature Publishing Group UK (London )

ISSN (Print): 1466-4879

ISSN (Electronic): 1476-5470

Publication date (Electronic): 30 December 2022

Publication date PMC-release: 30 December 2022

Pages: 1-11

Affiliations

[1 ]GRID grid.239573.9, ISNI 0000 0000 9025 8099, Division of Human Genetics, Center for Autoimmune Genomics and Etiology, , Cincinnati Children’s Hospital Medical Center, ; 3333 Burnet Ave., Cincinnati, OH 45229 USA

[2 ]GRID grid.24827.3b, ISNI 0000 0001 2179 9593, Immunology Graduate Program, , University of Cincinnati College of Medicine, ; 3230 Eden Ave, Cincinnati, OH 45229 USA

[3 ]GRID grid.239573.9, ISNI 0000 0000 9025 8099, Divisions of Biomedical Informatics and Developmental Biology, , Cincinnati Children’s Hospital Medical Center, ; 3333 Burnet Ave., Cincinnati, OH 45229 USA

[4 ]GRID grid.24827.3b, ISNI 0000 0001 2179 9593, Department of Pediatrics, , University of Cincinnati College of Medicine, ; 3230 Eden Ave, Cincinnati, OH 45229 USA

[5 ]GRID grid.239573.9, ISNI 0000 0000 9025 8099, Division of Allergy and Immunology, , Cincinnati Children’s Hospital Medical Center, ; 3333 Burnet Ave., MLC 15012, Cincinnati, OH 45229 USA

Author information

Samuel J. Virolainen http://orcid.org/0000-0001-5331-7384

Matthew T. Weirauch http://orcid.org/0000-0001-7977-9122

Leah C. Kottyan http://orcid.org/0000-0003-3979-2220

Article

Publisher ID: 192

DOI: 10.1038/s41435-022-00192-6

PMC ID: 9801363

PubMed ID: 36585519

SO-VID: f13819c9-d662-4a13-b894-be10cb47a21e

License:

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

History

Date received : 13 September 2022

Date revision received : 9 December 2022

Date accepted : 13 December 2022

Funding

Funded by: FundRef https://doi.org/10.13039/100000060, U.S. Department of Health & Human Services | NIH | National Institute of Allergy and Infectious Diseases (NIAID);

Award ID: R01 AI148276

Award ID: R01 AI024717

Award ID: U01 AI130830

Award ID: U01 AI150748

Award ID: R01 AI141569

Award ID: P01 AI150585

Award ID: R01 AI024717

Award Recipient : Matthew T. Weirauch Leah C. Kottyan

Funded by: U.S. Department of Health & Human Services | NIH | National Institute of Allergy and Infectious Diseases (NIAID)

Funded by: FundRef https://doi.org/10.13039/100000051, U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI);

Award ID: U01 HG011172

Award ID: R01 HG010730

Award Recipient : Matthew T. Weirauch Leah C. Kottyan

Funded by: FundRef https://doi.org/10.13039/100000069, U.S. Department of Health & Human Services | NIH | National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS);

Award ID: P30 AR070549

Award ID: R01 AR073228

Award Recipient : Matthew T. Weirauch Leah C. Kottyan

Funded by: U.S. Department of Health & Human Services | NIH | National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Funded by: U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI)

Funded by: U.S. Department of Health & Human Services | NIH | National Institute of Allergy and Infectious Diseases (NIAID)

Funded by: U.S. Department of Health & Human Services | NIH | National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Funded by: U.S. Department of Health & Human Services | NIH | National Institute of Allergy and Infectious Diseases (NIAID)

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Gene–environment interactions and their impact on human health

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European Journal of Microbiology and Immunology

Most cited references 193

Sex differences in immune responses

The GTEx Consortium atlas of genetic regulatory effects across human tissues

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

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