TY - JOUR
T1 - Alzheimer's disease genetics
T2 - From the bench to the clinic
AU - Karch, Celeste M.
AU - Cruchaga, Carlos
AU - Goate, Alison M.
N1 - Funding Information:
C.M.K. is supported by a career development award from NIH (K01 AG046374), A.M.G. received support from Barnes Jewish Foundation and NIH (AG035083), and C.C. received support from AG044546. A.M.G. and C.C. have received research funding from Genentech, Pfizer, and an Anonymous Foundation. A.M.G., C.M.K., and C.C. have received research funding from the DIAN Pharma-Consortium (Biogen Idec, Eisai, Elan Pharmaceuticals, Eli Lilly and Company, FORUM Pharmaceuticals, Hoffman La-Roche, Genentech, Janssen Alzheimer Immunotherapy, Mithridion, Novartis Pharm AG, Pfizer Biotherapeutics Research & Development, and Sanofi-Aventis).
PY - 2014/7/2
Y1 - 2014/7/2
N2 - Alzheimer's disease (AD) is a clinically heterogeneous neurodegenerative disease with a strong genetic component. Several genes have been associated with AD risk for nearly 20 years. However, it was not until the recent technological advances that allow for the analysis of millions of polymorphisms in thousands of subjects that we have been able to advance our understanding of the genetic complexity of AD susceptibility. Genome-wide association studies and whole-exome and whole-genome sequencing have revealed more than 20 loci associated with AD risk. These studies have provided insights into the molecular pathways that are altered in AD pathogenesis, which have, in turn, provided insight into novel therapeutic targets. Karch etal. discuss how the recent technological advances in human genetics have led to an increased understanding of the genetic architecture and molecular pathways involved in Alzheimer's disease.
AB - Alzheimer's disease (AD) is a clinically heterogeneous neurodegenerative disease with a strong genetic component. Several genes have been associated with AD risk for nearly 20 years. However, it was not until the recent technological advances that allow for the analysis of millions of polymorphisms in thousands of subjects that we have been able to advance our understanding of the genetic complexity of AD susceptibility. Genome-wide association studies and whole-exome and whole-genome sequencing have revealed more than 20 loci associated with AD risk. These studies have provided insights into the molecular pathways that are altered in AD pathogenesis, which have, in turn, provided insight into novel therapeutic targets. Karch etal. discuss how the recent technological advances in human genetics have led to an increased understanding of the genetic architecture and molecular pathways involved in Alzheimer's disease.
UR - http://www.scopus.com/inward/record.url?scp=84903627137&partnerID=8YFLogxK
U2 - 10.1016/j.neuron.2014.05.041
DO - 10.1016/j.neuron.2014.05.041
M3 - Review article
C2 - 24991952
AN - SCOPUS:84903627137
SN - 0896-6273
VL - 83
SP - 11
EP - 26
JO - Neuron
JF - Neuron
IS - 1
ER -