scholarly journals Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease

2018 ◽  
Vol 5 (4) ◽  
pp. 406-417 ◽  
Author(s):  
Badri N. Vardarajan ◽  
Sandra Barral ◽  
James Jaworski ◽  
Gary W. Beecham ◽  
Elizabeth Blue ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Late Onset ◽  
Whole Genome ◽  
Hispanic Families

O3-13-01: Whole genome sequencing of late-onset Alzheimer's disease patients from genetic isolate

2015 ◽  
Vol 11 (7S_Part_5) ◽  
pp. P250-P251
Author(s):  
Anastasia Grigorenko ◽  
Fedor Gusev ◽  
Denis Reshetov ◽  
Tatiana Andreeva ◽  
Lev Shagam ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Late Onset ◽  
Whole Genome ◽  
Genetic Isolate

scholarly journals P4-097: RARE VARIANTS IN FAMILIAL LATE-ONSET ALZHEIMER'S DISEASE IDENTIFIED FROM LARGE SCALE WHOLE GENOME SEQUENCING

2019 ◽  
Vol 15 ◽  
pp. P1312-P1312
Author(s):  
Badri N. Vardarajan ◽  
James Jaworski ◽  
Gary W. Beecham ◽  
Sandra Barral ◽  
Dolly Reyes-Dumeyer ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Large Scale ◽  
Rare Variants ◽  
Late Onset ◽  
Whole Genome

P1-156: GENE-BASED ANALYSES IN WHOLE GENOME SEQUENCING OF FAMILIAL LATE-ONSET ALZHEIMER'S DISEASE

2006 ◽  
Vol 14 (7S_Part_6) ◽  
pp. P336-P337
Author(s):  
Badri N. Vardarajan ◽  
Sandra Barral ◽  
James Jaworski ◽  
Gary W. Beecham ◽  
Elizabeth Blue ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Late Onset ◽  
Whole Genome

O1-09-03: Whole Genome Sequencing in Familial Late-Onset Alzheimer’s Disease Identifies Variations in TTC3 and FSIP2

2016 ◽  
Vol 12 ◽  
pp. P197-P197
Author(s):  
Gary W. Beecham ◽  
Badri N. Vardarajan ◽  
Elizabeth Blue ◽  
Sandra Barral ◽  
Jonathan L. Haines ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Late Onset ◽  
Whole Genome

P2-108: WHOLE-GENOME SEQUENCING IN NON-HISPANIC WHITE FAMILIES IMPLICATES RARE VARIATION IN LATE-ONSET ALZHEIMER'S DISEASE RISK

2006 ◽  
Vol 14 (7S_Part_13) ◽  
pp. P710-P710
Author(s):  
Gary W. Beecham ◽  
Badri N. Vardarajan ◽  
Elizabeth Blue ◽  
William S. Bush ◽  
James Jaworski ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Disease Risk ◽  
Late Onset ◽  
Whole Genome ◽  
Rare Variation ◽  
White Families ◽  
Hispanic White

WHOLE-GENOME SEQUENCING IN FAMILIAL LATE-ONSET ALZHEIMER’S DISEASE IDENTIFIES RARE VARIATION IN AD CANDIDATE GENES

2017 ◽  
Vol 13 (7) ◽  
pp. P571-P572 ◽  
Author(s):  
Gary W. Beecham ◽  
Badri N. Vardarajan ◽  
Elizabeth Blue ◽  
Sandra Barral ◽  
Jonathan L. Haines ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Whole Genome Sequencing ◽  
Candidate Genes ◽  
Genome Sequencing ◽  
Late Onset ◽  
Whole Genome ◽  
Rare Variation

scholarly journals Whole-genome sequencing reveals new Alzheimer’s disease-associated rare variants in loci related to synaptic function and neuronal development

2020 ◽  
Author(s):  
Dmitry Prokopenko ◽  
Sarah L. Morgan ◽  
Kristina Mullin ◽  
Oliver Hofmann ◽  
Brad Chapman ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Rare Variants ◽  
Spatial Clustering ◽  
Synaptic Function ◽  
Genome Wide Association Studies ◽  
Whole Genome ◽  
Genome Wide

AbstractINTRODUCTIONGenome-wide association studies have led to numerous genetic loci associated with Alzheimer’s disease (AD). Whole-genome sequencing (WGS) now permit genome-wide analyses to identify rare variants contributing to AD risk.METHODSWe performed single-variant and spatial clustering-based testing on rare variants (minor allele frequency ≤1%) in a family-based WGS-based association study of 2,247 subjects from 605 multiplex AD families, followed by replication in 1,669 unrelated individuals.RESULTSWe identified 13 new AD candidate loci that yielded consistent rare-variant signals in discovery and replication cohorts (4 from single-variant, 9 from spatial-clustering), implicating these genes: FNBP1L, SEL1L, LINC00298, PRKCH, C15ORF41, C2CD3, KIF2A, APC, LHX9, NALCN, CTNNA2, SYTL3, CLSTN2.DISCUSSIONDownstream analyses of these novel loci highlight synaptic function, in contrast to common AD-associated variants, which implicate innate immunity. These loci have not been previously associated with AD, emphasizing the ability of WGS to identify AD-associated rare variants, particularly outside of coding regions.

scholarly journals Assessing whole genome sequencing variation for Alzheimer’s disease in 4707 individuals from the Alzheimer’s Disease Sequencing Project (ADSP)

2020 ◽  
Vol 16 (S3) ◽  
Author(s):  
Gina M. Peloso ◽  
Yanbing Wang ◽  
Honghuang Lin ◽  
Chloé Sarnowski ◽  
Achilleas N. Pitsillides ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome ◽  
Sequencing Project

scholarly journals Novel Alzheimer’s disease risk variants identified based on whole-genome sequencing of APOE ε4 carriers

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Jong-Ho Park ◽  
Inho Park ◽  
Emilia Moonkyung Youm ◽  
Sejoon Lee ◽  
June-Hee Park ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Disease Risk ◽  
Association Studies ◽  
European Ancestry ◽  
Genome Wide Association Studies ◽  
Whole Genome ◽  
Ε4 Allele

AbstractAlzheimer’s disease (AD) is a progressive neurodegenerative disease associated with a complex genetic etiology. Besides the apolipoprotein E ε4 (APOE ε4) allele, a few dozen other genetic loci associated with AD have been identified through genome-wide association studies (GWAS) conducted mainly in individuals of European ancestry. Recently, several GWAS performed in other ethnic groups have shown the importance of replicating studies that identify previously established risk loci and searching for novel risk loci. APOE-stratified GWAS have yielded novel AD risk loci that might be masked by, or be dependent on, APOE alleles. We performed whole-genome sequencing (WGS) on DNA from blood samples of 331 AD patients and 169 elderly controls of Korean ethnicity who were APOE ε4 carriers. Based on WGS data, we designed a customized AD chip (cAD chip) for further analysis on an independent set of 543 AD patients and 894 elderly controls of the same ethnicity, regardless of their APOE ε4 allele status. Combined analysis of WGS and cAD chip data revealed that SNPs rs1890078 (P = 6.64E−07) and rs12594991 (P = 2.03E−07) in SORCS1 and CHD2 genes, respectively, are novel genetic variants among APOE ε4 carriers in the Korean population. In addition, nine possible novel variants that were rare in individuals of European ancestry but common in East Asia were identified. This study demonstrates that APOE-stratified analysis is important for understanding the genetic background of AD in different populations.

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