Protective variant for hippocampal atrophy identified by whole exome sequencing.
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ABSTRACT:
SUBMITTER: Nho K
PROVIDER: S-EPMC4387567 | biostudies-literature | 2015 Mar
REPOSITORIES: biostudies-literature
Publications
Protective variant for hippocampal atrophy identified by whole exome sequencing.
Nho Kwangsik K Kim Sungeun S Risacher Shannon L SL Shen Li L Corneveaux Jason J JJ Swaminathan Shanker S Lin Hai H Ramanan Vijay K VK Liu Yunlong Y Foroud Tatiana M TM Inlow Mark H MH Siniard Ashley L AL Reiman Rebecca A RA Aisen Paul S PS Petersen Ronald C RC Green Robert C RC Jack Clifford R CR Weiner Michael W MW Baldwin Clinton T CT Lunetta Kathryn L KL Farrer Lindsay A LA Furney Simon J SJ Lovestone Simon S Simmons Andrew A Mecocci Patrizia P Vellas Bruno B Tsolaki Magda M Kloszewska Iwona I Soininen Hilkka H McDonald Brenna C BC Farlow Martin R MR Ghetti Bernardino B Huentelman Matthew J MJ Saykin Andrew J AJ
Annals of neurology 20150214 3
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 Alzh ...[more]
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