Article
Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.
Human mutation - 1 Jul 2012
Rubio Justin P, Topp Simon, Warren Liling, St Jean Pamela L, Wegmann Daniel, Kessner Darren, Novembre John, Shen Judong, Fraser Dana, Aponte Jennifer, Nangle Keith, Cardon Lon R, Ehm Margaret G, Chissoe Stephanie L, Whittaker John C, Nelson Matthew R, Mooser Vincent E
Abstract excerpt
Genetic variation in LRRK2 predisposes to Parkinson disease (PD), which underpins its development as a therapeutic target. Here, we aimed to identify novel genotype-phenotype associations that might support developing LRRK2 therapies for other conditions. We sequenced the 51 exons of LRRK2 in cases comprising 12 common diseases (n = 9,582), and in 4,420 population controls. We identified 739 single-nucleotide...
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