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Coding and regulatory variants are associated with serum protein levels and disease
Circulating proteins can be used to diagnose and predict disease-related outcomes. A deep serum proteome survey recently revealed close associations between serum protein networks and common disease. In the current study, 54,469 low-frequency and common exome-array variants were compared to 4782 pro...
| Autores principales: | , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8789809/ https://www.ncbi.nlm.nih.gov/pubmed/35079000 http://dx.doi.org/10.1038/s41467-022-28081-6 |
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| author | Emilsson, Valur Gudmundsdottir, Valborg Gudjonsson, Alexander Jonmundsson, Thorarinn Jonsson, Brynjolfur G. Karim, Mohd A. Ilkov, Marjan Staley, James R. Gudmundsson, Elias F. Launer, Lenore J. Lindeman, Jan H. Morton, Nicholas M. Aspelund, Thor Lamb, John R. Jennings, Lori L. Gudnason, Vilmundur |
| author_facet | Emilsson, Valur Gudmundsdottir, Valborg Gudjonsson, Alexander Jonmundsson, Thorarinn Jonsson, Brynjolfur G. Karim, Mohd A. Ilkov, Marjan Staley, James R. Gudmundsson, Elias F. Launer, Lenore J. Lindeman, Jan H. Morton, Nicholas M. Aspelund, Thor Lamb, John R. Jennings, Lori L. Gudnason, Vilmundur |
| author_sort | Emilsson, Valur |
| collection | PubMed |
| description | Circulating proteins can be used to diagnose and predict disease-related outcomes. A deep serum proteome survey recently revealed close associations between serum protein networks and common disease. In the current study, 54,469 low-frequency and common exome-array variants were compared to 4782 protein measurements in the serum of 5343 individuals from the AGES Reykjavik cohort. This analysis identifies a large number of serum proteins with genetic signatures overlapping those of many diseases. More specifically, using a study-wide significance threshold, we find that 2021 independent exome array variants are associated with serum levels of 1942 proteins. These variants reside in genetic loci shared by hundreds of complex disease traits, highlighting serum proteins’ emerging role as biomarkers and potential causative agents of a wide range of diseases. |
| format | Online Article Text |
| id | pubmed-8789809 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-87898092022-02-07 Coding and regulatory variants are associated with serum protein levels and disease Emilsson, Valur Gudmundsdottir, Valborg Gudjonsson, Alexander Jonmundsson, Thorarinn Jonsson, Brynjolfur G. Karim, Mohd A. Ilkov, Marjan Staley, James R. Gudmundsson, Elias F. Launer, Lenore J. Lindeman, Jan H. Morton, Nicholas M. Aspelund, Thor Lamb, John R. Jennings, Lori L. Gudnason, Vilmundur Nat Commun Article Circulating proteins can be used to diagnose and predict disease-related outcomes. A deep serum proteome survey recently revealed close associations between serum protein networks and common disease. In the current study, 54,469 low-frequency and common exome-array variants were compared to 4782 protein measurements in the serum of 5343 individuals from the AGES Reykjavik cohort. This analysis identifies a large number of serum proteins with genetic signatures overlapping those of many diseases. More specifically, using a study-wide significance threshold, we find that 2021 independent exome array variants are associated with serum levels of 1942 proteins. These variants reside in genetic loci shared by hundreds of complex disease traits, highlighting serum proteins’ emerging role as biomarkers and potential causative agents of a wide range of diseases. Nature Publishing Group UK 2022-01-25 /pmc/articles/PMC8789809/ /pubmed/35079000 http://dx.doi.org/10.1038/s41467-022-28081-6 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/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/ (https://creativecommons.org/licenses/by/4.0/) . |
| spellingShingle | Article Emilsson, Valur Gudmundsdottir, Valborg Gudjonsson, Alexander Jonmundsson, Thorarinn Jonsson, Brynjolfur G. Karim, Mohd A. Ilkov, Marjan Staley, James R. Gudmundsson, Elias F. Launer, Lenore J. Lindeman, Jan H. Morton, Nicholas M. Aspelund, Thor Lamb, John R. Jennings, Lori L. Gudnason, Vilmundur Coding and regulatory variants are associated with serum protein levels and disease |
| title | Coding and regulatory variants are associated with serum protein levels and disease |
| title_full | Coding and regulatory variants are associated with serum protein levels and disease |
| title_fullStr | Coding and regulatory variants are associated with serum protein levels and disease |
| title_full_unstemmed | Coding and regulatory variants are associated with serum protein levels and disease |
| title_short | Coding and regulatory variants are associated with serum protein levels and disease |
| title_sort | coding and regulatory variants are associated with serum protein levels and disease |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8789809/ https://www.ncbi.nlm.nih.gov/pubmed/35079000 http://dx.doi.org/10.1038/s41467-022-28081-6 |
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