Article
Quantifying prion disease penetrance using large population control cohorts.
Science translational medicine - 20 Jan 2016
Minikel Eric Vallabh, Vallabh Sonia M, Lek Monkol, Estrada Karol, Samocha Kaitlin E, Sathirapongsasuti J Fah, McLean Cory Y, Tung Joyce Y, Yu Linda P C, Gambetti Pierluigi, Blevins Janis, Zhang Shulin, Cohen Yvonne, Chen Wei, Yamada Masahito, Hamaguchi Tsuyoshi, Sanjo Nobuo, Mizusawa Hidehiro, Nakamura Yosikazu, Kitamoto Tetsuyuki, Collins Steven J, Boyd Alison, Will Robert G, Knight Richard, Ponto Claudia, Zerr Inga, Kraus Theo F J, Eigenbrod Sabina, Giese Armin, Calero Miguel, de Pedro-Cuesta Jesús, Haïk Stéphane, Laplanche Jean-Louis, Bouaziz-Amar Elodie, Brandel Jean-Philippe, Capellari Sabina, Parchi Piero, Poleggi Anna, Ladogana Anna, O'Donnell-Luria Anne H, Karczewski Konrad J, Marshall Jamie L, Boehnke Michael, Laakso Markku, Mohlke Karen L, Kähler Anna, Chambert Kimberly, McCarroll Steven, Sullivan Patrick F, Hultman Christina M, Purcell Shaun M, Sklar Pamela, van der Lee Sven J, Rozemuller Annemieke, Jansen Casper, Hofman Albert, Kraaij Robert, van Rooij Jeroen G J, Ikram M Arfan, Uitterlinden André G, van Duijn Cornelia M, Daly Mark J, MacArthur Daniel G
Abstract excerpt
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...
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