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Overlapping group screening for detection of gene-environment interactions with application to TCGA high-dimensional survival genomic data

BACKGROUND: In the context of biomedical and epidemiological research, gene-environment (G-E) interaction is of great significance to the etiology and progression of many complex diseases. In high-dimensional genetic data, two general models, marginal and joint models, are proposed to identify impor...

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Autores principales: Wang, Jie-Huei, Wang, Kang-Hsin, Chen, Yi-Hau
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9150322/
https://www.ncbi.nlm.nih.gov/pubmed/35637439
http://dx.doi.org/10.1186/s12859-022-04750-7
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author Wang, Jie-Huei
Wang, Kang-Hsin
Chen, Yi-Hau
author_facet Wang, Jie-Huei
Wang, Kang-Hsin
Chen, Yi-Hau
author_sort Wang, Jie-Huei
collection PubMed
description BACKGROUND: In the context of biomedical and epidemiological research, gene-environment (G-E) interaction is of great significance to the etiology and progression of many complex diseases. In high-dimensional genetic data, two general models, marginal and joint models, are proposed to identify important interaction factors. Most existing approaches for identifying G-E interactions are limited owing to the lack of robustness to outliers/contamination in response and predictor data. In particular, right-censored survival outcomes make the associated feature screening even challenging. In this article, we utilize the overlapping group screening (OGS) approach to select important G-E interactions related to clinical survival outcomes by incorporating the gene pathway information under a joint modeling framework. RESULTS: Simulation studies under various scenarios are carried out to compare the performances of our proposed method with some commonly used methods. In the real data applications, we use our proposed method to identify G-E interactions related to the clinical survival outcomes of patients with head and neck squamous cell carcinoma, and esophageal carcinoma in The Cancer Genome Atlas clinical survival genetic data, and further establish corresponding survival prediction models. Both simulation and real data studies show that our method performs well and outperforms existing methods in the G-E interaction selection, effect estimation, and survival prediction accuracy. CONCLUSIONS: The OGS approach is useful for selecting important environmental factors, genes and G-E interactions in the ultra-high dimensional feature space. The prediction ability of OGS with the Lasso penalty is better than existing methods. The same idea of the OGS approach can apply to other outcome models, such as the proportional odds survival time model, the logistic regression model for binary outcomes, and the multinomial logistic regression model for multi-class outcomes. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12859-022-04750-7.
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spelling pubmed-91503222022-05-31 Overlapping group screening for detection of gene-environment interactions with application to TCGA high-dimensional survival genomic data Wang, Jie-Huei Wang, Kang-Hsin Chen, Yi-Hau BMC Bioinformatics Research BACKGROUND: In the context of biomedical and epidemiological research, gene-environment (G-E) interaction is of great significance to the etiology and progression of many complex diseases. In high-dimensional genetic data, two general models, marginal and joint models, are proposed to identify important interaction factors. Most existing approaches for identifying G-E interactions are limited owing to the lack of robustness to outliers/contamination in response and predictor data. In particular, right-censored survival outcomes make the associated feature screening even challenging. In this article, we utilize the overlapping group screening (OGS) approach to select important G-E interactions related to clinical survival outcomes by incorporating the gene pathway information under a joint modeling framework. RESULTS: Simulation studies under various scenarios are carried out to compare the performances of our proposed method with some commonly used methods. In the real data applications, we use our proposed method to identify G-E interactions related to the clinical survival outcomes of patients with head and neck squamous cell carcinoma, and esophageal carcinoma in The Cancer Genome Atlas clinical survival genetic data, and further establish corresponding survival prediction models. Both simulation and real data studies show that our method performs well and outperforms existing methods in the G-E interaction selection, effect estimation, and survival prediction accuracy. CONCLUSIONS: The OGS approach is useful for selecting important environmental factors, genes and G-E interactions in the ultra-high dimensional feature space. The prediction ability of OGS with the Lasso penalty is better than existing methods. The same idea of the OGS approach can apply to other outcome models, such as the proportional odds survival time model, the logistic regression model for binary outcomes, and the multinomial logistic regression model for multi-class outcomes. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12859-022-04750-7. BioMed Central 2022-05-30 /pmc/articles/PMC9150322/ /pubmed/35637439 http://dx.doi.org/10.1186/s12859-022-04750-7 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Wang, Jie-Huei
Wang, Kang-Hsin
Chen, Yi-Hau
Overlapping group screening for detection of gene-environment interactions with application to TCGA high-dimensional survival genomic data
title Overlapping group screening for detection of gene-environment interactions with application to TCGA high-dimensional survival genomic data
title_full Overlapping group screening for detection of gene-environment interactions with application to TCGA high-dimensional survival genomic data
title_fullStr Overlapping group screening for detection of gene-environment interactions with application to TCGA high-dimensional survival genomic data
title_full_unstemmed Overlapping group screening for detection of gene-environment interactions with application to TCGA high-dimensional survival genomic data
title_short Overlapping group screening for detection of gene-environment interactions with application to TCGA high-dimensional survival genomic data
title_sort overlapping group screening for detection of gene-environment interactions with application to tcga high-dimensional survival genomic data
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9150322/
https://www.ncbi.nlm.nih.gov/pubmed/35637439
http://dx.doi.org/10.1186/s12859-022-04750-7
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