TY - JOUR
T1 - Common DNA Variants Accurately Rank an Individual of Extreme Height
AU - Sexton, Corinne E.
AU - Ebbert, Mark T.W.
AU - Miller, Ryan H.
AU - Ferrel, Meganne
AU - Tschanz, Jo Ann T.
AU - Corcoran, Christopher D.
AU - Ridge, Perry G.
AU - Kauwe, John S.K.
N1 - Publisher Copyright:
© 2018 Corinne E. Sexton et al.
PY - 2018
Y1 - 2018
N2 - 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.
AB - 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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U2 - 10.1155/2018/5121540
DO - 10.1155/2018/5121540
M3 - Article
AN - SCOPUS:85059339307
SN - 2314-436X
VL - 2018
JO - International Journal of Genomics
JF - International Journal of Genomics
M1 - 5121540
ER -