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GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.
Cruchaga C, Kauwe JS, Harari O, Jin SC, Cai Y, Karch CM, Benitez BA, Jeng AT, Skorupa T, Carrell D, Bertelsen S, Bailey M, McKean D, Shulman JM, De Jager PL, Chibnik L, Bennett DA, Arnold SE, Harold D, Sims R, Gerrish A, Williams J, Van Deerlin VM, Lee VM, Shaw LM, Trojanowski JQ, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Peskind ER, Galasko D, Fagan AM, Holtzman DM, Morris JC; GERAD Consortium; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer Disease Genetic Consortium (ADGC), Goate AM. Cruchaga C, et al. Neuron. 2013 Apr 24;78(2):256-68. doi: 10.1016/j.neuron.2013.02.026. Epub 2013 Apr 4. Neuron. 2013. PMID: 23562540 Free PMC article.
Cerebrospinal fluid (CSF) tau, tau phosphorylated at threonine 181 (ptau), and Aβ₄₂ are established biomarkers for Alzheimer's disease (AD) and have been used as quantitative traits for genetic analyses. We performed the largest …
Cerebrospinal fluid (CSF) tau, tau phosphorylated at threonine 181 (ptau), and Aβ₄₂ are established biomarkers f …
Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers.
Deming Y, Li Z, Kapoor M, Harari O, Del-Aguila JL, Black K, Carrell D, Cai Y, Fernandez MV, Budde J, Ma S, Saef B, Howells B, Huang KL, Bertelsen S, Fagan AM, Holtzman DM, Morris JC, Kim S, Saykin AJ, De Jager PL, Albert M, Moghekar A, O'Brien R, Riemenschneider M, Petersen RC, Blennow K, Zetterberg H, Minthon L, Van Deerlin VM, Lee VM, Shaw LM, Trojanowski JQ, Schellenberg G, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Peskind ER, Li G, Di Narzo AF; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer Disease Genetic Consortium (ADGC), Kauwe JS, Goate AM, Cruchaga C. Deming Y, et al. Acta Neuropathol. 2017 May;133(5):839-856. doi: 10.1007/s00401-017-1685-y. Epub 2017 Feb 28. Acta Neuropathol. 2017. PMID: 28247064 Free PMC article.
Endophenotypes also contain additional information helpful for identifying variants and genes associated with other aspects of disease, such as rate of progression or onset, and provide context to interpret the results from genome-wide associ …
Endophenotypes also contain additional information helpful for identifying variants and genes associated with other aspects of …
Genome-Wide Association Studies for Cerebrospinal Fluid Soluble TREM2 in Alzheimer's Disease.
Liu C, Yu J. Liu C, et al. Front Aging Neurosci. 2019 Oct 25;11:297. doi: 10.3389/fnagi.2019.00297. eCollection 2019. Front Aging Neurosci. 2019. PMID: 31708768 Free PMC article.
Alzheimer's disease (AD) is the most common form of dementia. Rare variants in triggering receptor expressed on myeloid cells 2 (TREM2) have been identified as risk factors for AD. ...To explore the roles of CSF sTREM2 on the pathogenesis …
Alzheimer's disease (AD) is the most common form of dementia. Rare variants in triggering receptor expressed on …
Genome-wide association study for variants that modulate relationships between cerebrospinal fluid amyloid-beta 42, tau, and p-tau levels.
Maxwell TJ, Corcoran C, Del-Aguila JL, Budde JP, Deming Y, Cruchaga C, Goate AM, Kauwe JSK; Alzheimer’s Disease Neuroimaging Initiative. Maxwell TJ, et al. Alzheimers Res Ther. 2018 Aug 28;10(1):86. doi: 10.1186/s13195-018-0410-y. Alzheimers Res Ther. 2018. PMID: 30153862 Free PMC article.
METHODS: We performed genome-wide association studies to identify rQTL between tau and Aβ42 and ptau and Aβ42 with over 3000 individuals using age, gender, series, APOE ε2, APOE ε4, and two principal components for population structure as covari …
METHODS: We performed genome-wide association studies to identify rQTL between tau and Aβ42 and ptau and …
Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status.
Piccio L, Deming Y, Del-Águila JL, Ghezzi L, Holtzman DM, Fagan AM, Fenoglio C, Galimberti D, Borroni B, Cruchaga C. Piccio L, et al. Acta Neuropathol. 2016 Jun;131(6):925-33. doi: 10.1007/s00401-016-1533-5. Epub 2016 Jan 11. Acta Neuropathol. 2016. PMID: 26754641 Free PMC article.
Low frequency coding variants in TREM2 are associated with increased Alzheimer disease (AD) risk, while loss of functions mutations in the gene lead to an autosomal recessive early-onset dementia, named Nasu-Hakola disease (NHD). TREM2 can be de …
Low frequency coding variants in TREM2 are associated with increased Alzheimer disease (AD) risk, while loss of …
SNPs associated with cerebrospinal fluid phospho-tau levels influence rate of decline in Alzheimer's disease.
Cruchaga C, Kauwe JS, Mayo K, Spiegel N, Bertelsen S, Nowotny P, Shah AR, Abraham R, Hollingworth P, Harold D, Owen MM, Williams J, Lovestone S, Peskind ER, Li G, Leverenz JB, Galasko D; Alzheimer's Disease Neuroimaging Initiative, Morris JC, Fagan AM, Holtzman DM, Goate AM. Cruchaga C, et al. PLoS Genet. 2010 Sep 16;6(9):e1001101. doi: 10.1371/journal.pgen.1001101. PLoS Genet. 2010. PMID: 20862329 Free PMC article.
Alzheimer's Disease (AD) is a complex and multifactorial disease. While large genome-wide association studies have had some success in identifying novel genetic risk factors for AD, case-control studies are less likel …
Alzheimer's Disease (AD) is a complex and multifactorial disease. While large genome-wide assoc …
Common Variants in PLXNA4 and Correlation to CSF-related Phenotypes in Alzheimer's Disease.
Han Q, Sun YA, Zong Y, Chen C, Wang HF, Tan L; Alzheimer's Disease Neuroimaging Initiative. Han Q, et al. Front Neurosci. 2018 Dec 18;12:946. doi: 10.3389/fnins.2018.00946. eCollection 2018. Front Neurosci. 2018. PMID: 30618575 Free PMC article.
The Plexin-A 4 (PLXNA4) gene, has recently been identified in genome wide association studies (GWAS), as a novel genetic player associated with Alzheimer's disease (AD). ...Multiple linear regression models were used to expl …
The Plexin-A 4 (PLXNA4) gene, has recently been identified in genome wide association studies (GWAS), as …
Alterations in cholesterol metabolism-related genes in sporadic Alzheimer's disease.
Picard C, Julien C, Frappier J, Miron J, Théroux L, Dea D; United Kingdom Brain Expression Consortium and for the Alzheimer's Disease Neuroimaging Initiative, Breitner JCS, Poirier J. Picard C, et al. Neurobiol Aging. 2018 Jun;66:180.e1-180.e9. doi: 10.1016/j.neurobiolaging.2018.01.018. Epub 2018 Feb 9. Neurobiol Aging. 2018. PMID: 29503034
Genome-wide association studies have identified several cholesterol metabolism-related genes as top risk factors for late-onset Alzheimer's disease (LOAD). ...First, a total of 273 polymorphisms located in 17 cholesterol met …
Genome-wide association studies have identified several cholesterol metabolism-related genes as top risk …
CSF protein changes associated with hippocampal sclerosis risk gene variants highlight impact of GRN/PGRN.
Fardo DW, Katsumata Y, Kauwe JSK, Deming Y, Harari O, Cruchaga C; Alzheimer's Disease Neuroimaging Initiative, Nelson PT. Fardo DW, et al. Exp Gerontol. 2017 Apr;90:83-89. doi: 10.1016/j.exger.2017.01.025. Epub 2017 Feb 9. Exp Gerontol. 2017. PMID: 28189700 Free PMC article.
We tested the variability in cerebrospinal fluid (CSF) proteins associated with previously identified HS-Aging risk single nucleotide polymorphisms (SNPs). METHODS: Alzheimer's Disease Neuroimaging Initiative cohort (ADNI; n=237) d …
We tested the variability in cerebrospinal fluid (CSF) proteins associated with previously identified HS-Aging risk …
Genome-wide association reveals genetic effects on human Aβ42 and τ protein levels in cerebrospinal fluids: a case control study.
Han MR, Schellenberg GD, Wang LS; Alzheimer's Disease Neuroimaging Initiative. Han MR, et al. BMC Neurol. 2010 Oct 8;10:90. doi: 10.1186/1471-2377-10-90. BMC Neurol. 2010. PMID: 20932310 Free PMC article.
BACKGROUND: Alzheimer's disease (AD) is common and highly heritable with many genes and gene variants associated with AD in one or more studies, including APOE ε2/ε3/ε4. ...We carried out a genome-wide association study ( …
BACKGROUND: Alzheimer's disease (AD) is common and highly heritable with many genes and gene variants associated …
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