Genetic variants in Alzheimer disease—molecular and brain network approaches

C Gaiteri, S Mostafavi, CJ Honey, PL De Jager… - Nature Reviews …, 2016 - nature.com
… -associated genetic variants. We … genetic variants at multiple biophysical scales. Furthermore,
we highlight the clinical potential of mechanistically coupling genetic variants and disease

Genomic variants, genes, and pathways of Alzheimer's disease: An overview

…, Alzheimer's Disease Genetics … - … of Medical Genetics …, 2017 - Wiley Online Library
… This strategy, followed by “fine mapping”—the positional cloning of candidate genes—was
used to identify genes and genetic variants contributing to AD risk. The first three genes

NALP1/NLRP1 genetic variants are associated with Alzheimer disease

A Pontillo, E Catamo, B Arosio, D Mari… - Alzheimer Disease & …, 2012 - journals.lww.com
Alzheimer disease (AD) is a complex neurodegenerative disease. Genetic and molecular
studies have confirmed that in the human brain, amyloid-β fibrils can induce, through the …

From common to rare variants: the genetic component of Alzheimer disease

G Nicolas, C Charbonnier, D Campion - Human heredity, 2017 - karger.com
Alzheimer disease (AD) is a remarkable example of genetic heterogeneity. Extremely rare
variants in the APP, PSEN1, or PSEN2 genes… by the SORL1 Alzheimer’s disease genetic risk …

Genetic variation and neuroimaging measures in Alzheimer disease

…, Alzheimer's Disease Neuroimaging Initiative … - Archives of …, 2010 - jamanetwork.com
… Late-onset Alzheimer disease (AD) is the most common cause of dementia … for genetics in
late-onset AD, with heritability estimates of 60% to 80%. Until recently, the only genetic variant

Alzheimer disease risk and genetic variation in ACE A meta-analysis

JS Elkins, VC Douglas, SC Johnston - Neurology, 2004 - AAN Enterprises
… it has been estimated to account for less than half of the genetic contribution to AD risk.3
The possibility that genetic variation at the ACE locus may influence risk for AD is supported by …

Genetic variations underlying Alzheimer's disease: evidence from genome-wide association studies and beyond

E Cuyvers, K Sleegers - The Lancet Neurology, 2016 - thelancet.com
… The search for functionally relevant genetic variants in risk loci detected in … to disease. Next,
we present accumulating evidence of rare variants contributing to risk of Alzheimer's disease

SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data

D Campion, C Charbonnier, G Nicolas - Acta neuropathologica, 2019 - Springer
genes carrying a higher burden of rare, protein-truncating and missense predicted damaging
variants in Alzheimer disease (… coding variants has been demonstrated at the gene level by …

Late-onset Alzheimer disease genetic variants in posterior cortical atrophy and posterior AD

MM Carrasquillo, QUA Khan, ME Murray, S Krishnan… - Neurology, 2014 - AAN Enterprises
… Association of genetic variants with risk of clinical PCA or posterior AD only or combined …
An additive model was tested for all genetic variants. A recessive model was also tested for …

Genetic variants and functional pathways associated with resilience to Alzheimer's disease

…, Alzheimer's Disease Genetics Consortium (ADGC), A4 … - Brain, 2020 - academic.oup.com
… resilience metrics were genetically correlated with … genetically correlated with clinical
Alzheimer’s disease (P-values > 0.42) nor associated with APOE (P-values > 0.13). In single variant