Quantifying prion disease penetrance using large population control cohorts.
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ABSTRACT:
SUBMITTER: Minikel EV
PROVIDER: S-EPMC4774245 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
Publications
Quantifying prion disease penetrance using large population control cohorts.
Minikel Eric Vallabh EV Vallabh Sonia M SM Lek Monkol M Estrada Karol K Samocha Kaitlin E KE Sathirapongsasuti J Fah JF McLean Cory Y CY Tung Joyce Y JY Yu Linda P C LP Gambetti Pierluigi P Blevins Janis J Zhang Shulin S Cohen Yvonne Y Chen Wei W Yamada Masahito M Hamaguchi Tsuyoshi T Sanjo Nobuo N Mizusawa Hidehiro H Nakamura Yosikazu Y Kitamoto Tetsuyuki T Collins Steven J SJ Boyd Alison A Will Robert G RG Knight Richard R Ponto Claudia C Zerr Inga I Kraus Theo F J TF Eigenbrod Sabina S Giese Armin A Calero Miguel M de Pedro-Cuesta Jesús J Haïk Stéphane S Laplanche Jean-Louis JL Bouaziz-Amar Elodie E Brandel Jean-Philippe JP Capellari Sabina S Parchi Piero P Poleggi Anna A Ladogana Anna A O'Donnell-Luria Anne H AH Karczewski Konrad J KJ Marshall Jamie L JL Boehnke Michael M Laakso Markku M Mohlke Karen L KL Kähler Anna A Chambert Kimberly K McCarroll Steven S Sullivan Patrick F PF Hultman Christina M CM Purcell Shaun M SM Sklar Pamela P van der Lee Sven J SJ Rozemuller Annemieke A Jansen Casper C Hofman Albert A Kraaij Robert R van Rooij Jeroen G J JG Ikram M Arfan MA Uitterlinden André G AG van Duijn Cornelia M CM Daly Mark J MJ MacArthur Daniel G DG
Science translational medicine 20160101 322
More than 100,000 genetic variants are reported to cause Mendelian disease in humans, but the penetrance-the probability that a carrier of the purported disease-causing genotype will indeed develop the disease-is generally unknown. We assess the impact of variants in the prion protein gene (PRNP) on the risk of prion disease by analyzing 16,025 prion disease cases, 60,706 population control exomes, and 531,575 individuals genotyped by 23andMe Inc. We show that missense variants in PRNP previousl ...[more]
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