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A Compendium of Age-Related PheWAS and GWAS Traits for Human Genetic Association Studies, Their Networks and Genetic Correlations
The rich data from the genome-wide association studies (GWAS) and phenome-wide association studies (PheWAS) offer an unprecedented opportunity to identify the biological underpinnings of age-related disease (ARD) risk and multimorbidity. Surprisingly, however, a comprehensive list of ARDs remains un...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8204079/ https://www.ncbi.nlm.nih.gov/pubmed/34140970 http://dx.doi.org/10.3389/fgene.2021.680560 |
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author | Kim, Seung-Soo Hudgins, Adam D. Gonzalez, Brenda Milman, Sofiya Barzilai, Nir Vijg, Jan Tu, Zhidong Suh, Yousin |
author_facet | Kim, Seung-Soo Hudgins, Adam D. Gonzalez, Brenda Milman, Sofiya Barzilai, Nir Vijg, Jan Tu, Zhidong Suh, Yousin |
author_sort | Kim, Seung-Soo |
collection | PubMed |
description | The rich data from the genome-wide association studies (GWAS) and phenome-wide association studies (PheWAS) offer an unprecedented opportunity to identify the biological underpinnings of age-related disease (ARD) risk and multimorbidity. Surprisingly, however, a comprehensive list of ARDs remains unavailable due to the lack of a clear definition and selection criteria. We developed a method to identify ARDs and to provide a compendium of ARDs for genetic association studies. Querying 1,358 electronic medical record-derived traits, we first defined ARDs and age-related traits (ARTs) based on their prevalence profiles, requiring a unimodal distribution that shows an increasing prevalence after the age of 40 years, and which reaches a maximum peak at 60 years of age or later. As a result, we identified a list of 463 ARDs and ARTs in the GWAS and PheWAS catalogs. We next translated the ARDs and ARTs to their respective 276 Medical Subject Headings diseases and 45 anatomy terms. The most abundant disease categories are neoplasms (48 terms), cardiovascular diseases (44 terms), and nervous system diseases (27 terms). Employing data from a human symptoms-disease network, we found 6 symptom-shared disease groups, representing cancers, heart diseases, brain diseases, joint diseases, eye diseases, and mixed diseases. Lastly, by overlaying our ARD and ART list with genetic correlation data from the UK Biobank, we found 54 phenotypes in 2 clusters with high genetic correlations. Our compendium of ARD and ART is a highly useful resource, with broad applicability for studies of the genetics of aging, ARD, and multimorbidity. |
format | Online Article Text |
id | pubmed-8204079 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-82040792021-06-16 A Compendium of Age-Related PheWAS and GWAS Traits for Human Genetic Association Studies, Their Networks and Genetic Correlations Kim, Seung-Soo Hudgins, Adam D. Gonzalez, Brenda Milman, Sofiya Barzilai, Nir Vijg, Jan Tu, Zhidong Suh, Yousin Front Genet Genetics The rich data from the genome-wide association studies (GWAS) and phenome-wide association studies (PheWAS) offer an unprecedented opportunity to identify the biological underpinnings of age-related disease (ARD) risk and multimorbidity. Surprisingly, however, a comprehensive list of ARDs remains unavailable due to the lack of a clear definition and selection criteria. We developed a method to identify ARDs and to provide a compendium of ARDs for genetic association studies. Querying 1,358 electronic medical record-derived traits, we first defined ARDs and age-related traits (ARTs) based on their prevalence profiles, requiring a unimodal distribution that shows an increasing prevalence after the age of 40 years, and which reaches a maximum peak at 60 years of age or later. As a result, we identified a list of 463 ARDs and ARTs in the GWAS and PheWAS catalogs. We next translated the ARDs and ARTs to their respective 276 Medical Subject Headings diseases and 45 anatomy terms. The most abundant disease categories are neoplasms (48 terms), cardiovascular diseases (44 terms), and nervous system diseases (27 terms). Employing data from a human symptoms-disease network, we found 6 symptom-shared disease groups, representing cancers, heart diseases, brain diseases, joint diseases, eye diseases, and mixed diseases. Lastly, by overlaying our ARD and ART list with genetic correlation data from the UK Biobank, we found 54 phenotypes in 2 clusters with high genetic correlations. Our compendium of ARD and ART is a highly useful resource, with broad applicability for studies of the genetics of aging, ARD, and multimorbidity. Frontiers Media S.A. 2021-06-01 /pmc/articles/PMC8204079/ /pubmed/34140970 http://dx.doi.org/10.3389/fgene.2021.680560 Text en Copyright © 2021 Kim, Hudgins, Gonzalez, Milman, Barzilai, Vijg, Tu and Suh. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Kim, Seung-Soo Hudgins, Adam D. Gonzalez, Brenda Milman, Sofiya Barzilai, Nir Vijg, Jan Tu, Zhidong Suh, Yousin A Compendium of Age-Related PheWAS and GWAS Traits for Human Genetic Association Studies, Their Networks and Genetic Correlations |
title | A Compendium of Age-Related PheWAS and GWAS Traits for Human Genetic Association Studies, Their Networks and Genetic Correlations |
title_full | A Compendium of Age-Related PheWAS and GWAS Traits for Human Genetic Association Studies, Their Networks and Genetic Correlations |
title_fullStr | A Compendium of Age-Related PheWAS and GWAS Traits for Human Genetic Association Studies, Their Networks and Genetic Correlations |
title_full_unstemmed | A Compendium of Age-Related PheWAS and GWAS Traits for Human Genetic Association Studies, Their Networks and Genetic Correlations |
title_short | A Compendium of Age-Related PheWAS and GWAS Traits for Human Genetic Association Studies, Their Networks and Genetic Correlations |
title_sort | compendium of age-related phewas and gwas traits for human genetic association studies, their networks and genetic correlations |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8204079/ https://www.ncbi.nlm.nih.gov/pubmed/34140970 http://dx.doi.org/10.3389/fgene.2021.680560 |
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