@article{ccd97c6d9ca8413ca388eed20b7bdca9,
title = "Protective variant for hippocampal atrophy identified by whole exome sequencing",
abstract = "We used whole-exome sequencing to identify variants other than APOE associated with the rate of hippocampal atrophy in amnestic mild cognitive impairment. An in-silico predicted missense variant in REST (rs3796529) was found exclusively in subjects with slow hippocampal volume loss and validated using unbiased whole-brain analysis and meta-analysis across 5 independent cohorts. REST is a master regulator of neurogenesis and neuronal differentiation that has not been previously implicated in Alzheimer's disease. These findings nominate REST and its functional pathways as protective and illustrate the potential of combining next-generation sequencing with neuroimaging to discover novel disease mechanisms and potential therapeutic targets.",
author = "Kwangsik Nho and Sungeun Kim and Risacher, {Shannon L.} and Li Shen and Corneveaux, {Jason J.} and Shanker Swaminathan and Hai Lin and Ramanan, {Vijay K.} and Yunlong Liu and Foroud, {Tatiana M.} and Inlow, {Mark H.} and Siniard, {Ashley L.} and Reiman, {Rebecca A.} and Aisen, {Paul S.} and Petersen, {Ronald C.} and Green, {Robert C.} and Jack, {Clifford R.} and Weiner, {Michael W.} and Baldwin, {Clinton T.} and Lunetta, {Kathryn L.} and Farrer, {Lindsay A.} and Furney, {Simon J.} and Simon Lovestone and Andrew Simmons and Patrizia Mecocci and Bruno Vellas and Magda Tsolaki and Iwona Kloszewska and Hilkka Soininen and McDonald, {Brenna C.} and Farlow, {Martin R.} and Bernardino Ghetti and Huentelman, {Matthew J.} and Saykin, {Andrew J.}",
note = "Publisher Copyright: {\textcopyright} 2015 American Neurological Association.",
year = "2015",
month = mar,
day = "1",
doi = "10.1002/ana.24349",
language = "English (US)",
volume = "77",
pages = "547--552",
journal = "Annals of neurology",
issn = "0364-5134",
publisher = "John Wiley and Sons Inc.",
number = "3",
}