Common DNA Variants Accurately Rank an Individual of Extreme Height

Corinne E. Sexton, Mark T.W. Ebbert, Ryan H. Miller, Meganne Ferrel, Jo Ann T. Tschanz, Christopher D. Corcoran, Perry G. Ridge, John S.K. Kauwe

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

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.

Original languageEnglish
Article number5121540
JournalInternational Journal of Genomics
Volume2018
DOIs
StatePublished - 2018

Bibliographical note

Publisher Copyright:
© 2018 Corinne E. Sexton et al.

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Pharmaceutical Science

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