scholarly journals Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease

2019 ◽  
Vol 6 (2) ◽  
pp. 416-416
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Rare Variants ◽  
Whole Exome

scholarly journals Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease

2018 ◽  
Vol 5 (7) ◽  
pp. 832-842 ◽  
Author(s):  
Neha S. Raghavan ◽  
Adam M. Brickman ◽  
Howard Andrews ◽  
Jennifer J. Manly ◽  
Nicole Schupf ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Rare Variants ◽  
Whole Exome

scholarly journals Whole Exome Sequencing in 20,197 Persons for Rare Variants in Alzheimer Disease

2018 ◽  
Author(s):  
Neha S. Raghavan ◽  
Adam M. Brickman ◽  
Howard Andrews ◽  
Jennifer J. Manly ◽  
Nicole Schupf ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Rare Variants ◽  
Age At Onset ◽  
Genomic Medicine ◽  
Loss Of Function ◽  
Whole Exome ◽  
A Genome

AbstractObjectiveThe genetic bases of Alzheimer’s disease remain uncertain. An international effort to fully articulate genetic risks and protective factors is underway with the hope of identifying potential therapeutic targets and preventive strategies. The goal here was to identify and characterize the frequency and impact of rare and ultra-rare variants in Alzheimer’s disease using whole exome sequencing in 20,197 individuals.MethodsWe used a gene-based collapsing analysis of loss-of-function ultra-rare variants in a case-control study design with data from the Washington Heights-Inwood Columbia Aging Project, the Alzheimer’s Disease Sequencing Project and unrelated individuals from the Institute of Genomic Medicine at Columbia University.ResultsWe identified 19 cases carrying extremely rare SORL1 loss-of-function variants among a collection of 6,965 cases and a single loss-of-function variant among 13,252 controls (p = 2.17 × 10-8; OR 36.2 [95%CI 5.8 – 1493.0]). Age-at-onset was seven years earlier for patients with SORL1 qualifying variant compared with non-carriers. No other gene attained a study-wide level of statistical significance, but multiple top-ranked genes, including GRID2IP, WDR76 and GRN, were among candidates for follow-up studies.InterpretationThis study implicates ultra-rare, loss-of-function variants in SORL1 as a significant genetic risk factor for Alzheimer’s disease and provides a comprehensive dataset comparing the burden of rare variation in nearly all human genes in Alzheimer’s disease cases and controls. This is the first investigation to establish a genome-wide statistically significant association between multiple extremely rare loss-of-function variants in SORL1 and Alzheimer’s disease in a large whole-exome study of unrelated cases and controls.

P1-170: WHOLE-EXOME SEQUENCING IN 20,197 INDIVIDUALS IDENTIFIES ULTRA-RARE SORL1 LOSS-OF-FUNCTION VARIANTS IN LATE-ONSET ALZHEIMER'S DISEASE

2006 ◽  
Vol 14 (7S_Part_6) ◽  
pp. P344-P344
Author(s):  
Neha S. Raghavan ◽  
Adam M. Brickman ◽  
Howard Andrews ◽  
Jennifer J. Manly ◽  
Nicole Schupf ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Late Onset ◽  
Loss Of Function ◽  
Whole Exome

P2-024: Whole-exome sequencing in dutch families with Alzheimer's disease

2015 ◽  
Vol 11 (7S_Part_10) ◽  
pp. P490-P490
Author(s):  
Tsz Hang Wong ◽  
Sven J. van der Lee ◽  
Lieke H.H. Meeter ◽  
Jeroen G.J. van Rooij ◽  
M. Arfan Ikram ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome

scholarly journals O1-09-02: Whole Exome Sequencing of Late Onset Multiplex Families Identifies Rare Coding Variants in Known and Novel Alzheimer’s Disease Genes

2016 ◽  
Vol 12 ◽  
pp. P196-P197
Author(s):  
Holly N. Cukier ◽  
Brian W. Kunkle ◽  
Sophie Rolati ◽  
Patrice L. Whitehead ◽  
Jeffery M. Vance ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Late Onset ◽  
Disease Genes ◽  
Whole Exome ◽  
Multiplex Families ◽  
Coding Variants
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