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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...

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Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
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.
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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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