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Common DNA Variants Accurately Rank an Individual of Extreme Height
Polygenic scores (or genetic risk scores) quantify the aggregate of small effects from many common genetic loci that have been associated with a trait through genome-wide association. Polygenic scores were first used successfully in schizophrenia and have since been applied to multiple phenotypes in...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142724/ https://www.ncbi.nlm.nih.gov/pubmed/30255029 http://dx.doi.org/10.1155/2018/5121540 |
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author | Sexton, Corinne E. Ebbert, Mark T. W. Miller, Ryan H. Ferrel, Meganne Tschanz, Jo Ann T. Corcoran, Christopher D. Ridge, Perry G. Kauwe, John S. K. |
author_facet | Sexton, Corinne E. Ebbert, Mark T. W. Miller, Ryan H. Ferrel, Meganne Tschanz, Jo Ann T. Corcoran, Christopher D. Ridge, Perry G. Kauwe, John S. K. |
author_sort | Sexton, Corinne E. |
collection | PubMed |
description | Polygenic scores (or genetic risk scores) quantify the aggregate of small effects from many common genetic loci that have been associated with a trait through genome-wide association. Polygenic scores were first used successfully in schizophrenia and have since been applied to multiple phenotypes including multiple sclerosis, rheumatoid arthritis, and height. Because human height is an easily-measured and complex polygenic trait, polygenic height scores provide exciting insights into the predictability of aggregate common variant effect on the phenotype. Shawn Bradley is an extremely tall former professional basketball player from Brigham Young University and the National Basketball Association (NBA), measuring 2.29 meters (7′6(″), 99.99999th percentile for height) tall, with no known medical conditions. Here, we present a case where a rare combination of common SNPs in one individual results in an extremely high polygenic height score that is correlated with an extreme phenotype. While polygenic scores are not clinically significant in the average case, our findings suggest that for extreme phenotypes, polygenic scores may be more successful for the prediction of individuals. |
format | Online Article Text |
id | pubmed-6142724 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Hindawi |
record_format | MEDLINE/PubMed |
spelling | pubmed-61427242018-09-25 Common DNA Variants Accurately Rank an Individual of Extreme Height Sexton, Corinne E. Ebbert, Mark T. W. Miller, Ryan H. Ferrel, Meganne Tschanz, Jo Ann T. Corcoran, Christopher D. Ridge, Perry G. Kauwe, John S. K. Int J Genomics Research Article Polygenic scores (or genetic risk scores) quantify the aggregate of small effects from many common genetic loci that have been associated with a trait through genome-wide association. Polygenic scores were first used successfully in schizophrenia and have since been applied to multiple phenotypes including multiple sclerosis, rheumatoid arthritis, and height. Because human height is an easily-measured and complex polygenic trait, polygenic height scores provide exciting insights into the predictability of aggregate common variant effect on the phenotype. Shawn Bradley is an extremely tall former professional basketball player from Brigham Young University and the National Basketball Association (NBA), measuring 2.29 meters (7′6(″), 99.99999th percentile for height) tall, with no known medical conditions. Here, we present a case where a rare combination of common SNPs in one individual results in an extremely high polygenic height score that is correlated with an extreme phenotype. While polygenic scores are not clinically significant in the average case, our findings suggest that for extreme phenotypes, polygenic scores may be more successful for the prediction of individuals. Hindawi 2018-09-04 /pmc/articles/PMC6142724/ /pubmed/30255029 http://dx.doi.org/10.1155/2018/5121540 Text en Copyright © 2018 Corinne E. Sexton et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Sexton, Corinne E. Ebbert, Mark T. W. Miller, Ryan H. Ferrel, Meganne Tschanz, Jo Ann T. Corcoran, Christopher D. Ridge, Perry G. Kauwe, John S. K. Common DNA Variants Accurately Rank an Individual of Extreme Height |
title | Common DNA Variants Accurately Rank an Individual of Extreme Height |
title_full | Common DNA Variants Accurately Rank an Individual of Extreme Height |
title_fullStr | Common DNA Variants Accurately Rank an Individual of Extreme Height |
title_full_unstemmed | Common DNA Variants Accurately Rank an Individual of Extreme Height |
title_short | Common DNA Variants Accurately Rank an Individual of Extreme Height |
title_sort | common dna variants accurately rank an individual of extreme height |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142724/ https://www.ncbi.nlm.nih.gov/pubmed/30255029 http://dx.doi.org/10.1155/2018/5121540 |
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