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Genetics of common cerebral small vessel disease.
Bordes C, Sargurupremraj M, Mishra A, Debette S. Bordes C, et al. Nat Rev Neurol. 2022 Feb;18(2):84-101. doi: 10.1038/s41582-021-00592-8. Epub 2022 Jan 5. Nat Rev Neurol. 2022. PMID: 34987231 Review.
Advances in technologies and collaborative work have led to substantial progress in the identification of common genetic variants that are associated with cSVD-related stroke (ischaemic and haemorrhagic) and MRI-defined covert cSVD. In this Review, we provide an ove …
Advances in technologies and collaborative work have led to substantial progress in the identification of common genetic variants tha …
Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis.
Kunkle BW, Schmidt M, Klein HU, Naj AC, Hamilton-Nelson KL, Larson EB, Evans DA, De Jager PL, Crane PK, Buxbaum JD, Ertekin-Taner N, Barnes LL, Fallin MD, Manly JJ, Go RCP, Obisesan TO, Kamboh MI, Bennett DA, Hall KS, Goate AM, Foroud TM, Martin ER, Wang LS, Byrd GS, Farrer LA, Haines JL, Schellenberg GD, Mayeux R, Pericak-Vance MA, Reitz C; Writing Group for the Alzheimer’s Disease Genetics Consortium (ADGC); Graff-Radford NR, Martinez I, Ayodele T, Logue MW, Cantwell LB, Jean-Francois M, Kuzma AB, Adams LD, Vance JM, Cuccaro ML, Chung J, Mez J, Lunetta KL, Jun GR, Lopez OL, Hendrie HC, Reiman EM, Kowall NW, Leverenz JB, Small SA, Levey AI, Golde TE, Saykin AJ, Starks TD, Albert MS, Hyman BT, Petersen RC, Sano M, Wisniewski T, Vassar R, Kaye JA, Henderson VW, DeCarli C, LaFerla FM, Brewer JB, Miller BL, Swerdlow RH, Van Eldik LJ, Paulson HL, Trojanowski JQ, Chui HC, Rosenberg RN, Craft S, Grabowski TJ, Asthana S, Morris JC, Strittmatter SM, Kukull WA. Kunkle BW, et al. JAMA Neurol. 2021 Jan 1;78(1):102-113. doi: 10.1001/jamaneurol.2020.3536. JAMA Neurol. 2021. PMID: 33074286 Free PMC article.
Gene expression data from brain tissue demonstrate association of ALCAM, ARAP1, GPC6, and RBFOX1 with brain beta-amyloid load. ...CONCLUSIONS AND RELEVANCE: While the major pathways involved in Alzheimer disease etiology in African
Gene expression data from brain tissue demonstrate association of ALCAM, ARAP1, GPC6, and RBFOX1 with brain
Novel Alzheimer risk genes determine the microglia response to amyloid-β but not to TAU pathology.
Sierksma A, Lu A, Mancuso R, Fattorelli N, Thrupp N, Salta E, Zoco J, Blum D, Buée L, De Strooper B, Fiers M. Sierksma A, et al. EMBO Mol Med. 2020 Mar 6;12(3):e10606. doi: 10.15252/emmm.201910606. Epub 2020 Jan 17. EMBO Mol Med. 2020. PMID: 31951107 Free PMC article.
Polygenic risk scores have identified that genetic variants without genome-wide significance still add to the genetic risk of developing Alzheimer's disease (AD). Whether and how subthreshold risk loci translate into relevant disease path …
Polygenic risk scores have identified that genetic variants without genome-wide significance still add to the genetic risk of develop …
Novel late-onset Alzheimer disease loci variants associate with brain gene expression.
Allen M, Zou F, Chai HS, Younkin CS, Crook J, Pankratz VS, Carrasquillo MM, Rowley CN, Nair AA, Middha S, Maharjan S, Nguyen T, Ma L, Malphrus KG, Palusak R, Lincoln S, Bisceglio G, Georgescu C, Schultz D, Rakhshan F, Kolbert CP, Jen J, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Petersen RC, Graff-Radford NR, Dickson DW, Younkin SG, Ertekin-Taner N; Alzheimer's Disease Genetics Consortium (ADGC); Apostolova LG, Arnold SE, Baldwin CT, Barber R, Barmada MM, Beach T, Beecham GW, Beekly D, Bennett DA, Bigio EH, Bird TD, Blacker D, Boeve BF, Bowen JD, Boxer A, Burke JR, Buros J, Buxbaum JD, Cairns NJ, Cantwell LB, Cao C, Carlson CS, Carney RM, Carroll SL, Chui HC, Clark DG, Corneveaux J, Cotman CW, Crane PK, Cruchaga C, Cummings JL, De Jager PL, DeCarli C, DeKosky ST, Demirci FY, Diaz-Arrastia R, Dick M, Dombroski BA, Duara R, Ellis WD, Evans D, Faber KM, Fallon KB, Farlow MR, Ferris S, Foroud TM, Frosch M, Galasko DR, Gallins PJ, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Gilman S, Giordani B, Glass JD, Goate AM, Green RC, Growdon JH, Hakonarson H, Hamilton RL, Hardy J, Harrell LE, Head E, Honig LS, Huentelman MJ, Hulette CM, Hyman BT, Jarvik GP,… See abstract for full author list ➔ Allen M, et al. Neurology. 2012 Jul 17;79(3):221-8. doi: 10.1212/WNL.0b013e3182605801. Epub 2012 Jun 20. Neurology. 2012. PMID: 22722634 Free PMC article.
OBJECTIVE: Recent genome-wide association studies (GWAS) of late-onset Alzheimer disease (LOAD) identified 9 novel risk loci. ...We therefore investigated the influence of the novel LOAD risk loci on human brain
OBJECTIVE: Recent genome-wide association studies (GWAS) of late-onset Alzheimer disease (LOAD) identifie …
Epigenetic and integrative cross-omics analyses of cerebral white matter hyperintensities on MRI.
Yang Y, Knol MJ, Wang R, Mishra A, Liu D, Luciano M, Teumer A, Armstrong N, Bis JC, Jhun MA, Li S, Adams HHH, Aziz NA, Bastin ME, Bourgey M, Brody JA, Frenzel S, Gottesman RF, Hosten N, Hou L, Kardia SLR, Lohner V, Marquis P, Maniega SM, Satizabal CL, Sorond FA, Valdés Hernández MC, van Duijn CM, Vernooij MW, Wittfeld K, Yang Q, Zhao W, Boerwinkle E, Levy D, Deary IJ, Jiang J, Mather KA, Mosley TH, Psaty BM, Sachdev PS, Smith JA, Sotoodehnia N, DeCarli CS, Breteler MMB, Ikram MA, Grabe HJ, Wardlaw J, Longstreth WT, Launer LJ, Seshadri S, Debette S, Fornage M. Yang Y, et al. Brain. 2023 Feb 13;146(2):492-506. doi: 10.1093/brain/awac290. Brain. 2023. PMID: 35943854 Free PMC article.
We identified 12 single CpG and 46 region-based DNA methylation associations with white matter hyperintensity burden. Our top discovery single CpG, cg24202936 (P = 7.6 10-8), was associated with F2 expression in blood (P = 6.4 10-5) and co-localized with FOLH …
We identified 12 single CpG and 46 region-based DNA methylation associations with white matter hyperintensity burden. Our top discove …
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.
Davies G, Lam M, Harris SE, Trampush JW, Luciano M, Hill WD, Hagenaars SP, Ritchie SJ, Marioni RE, Fawns-Ritchie C, Liewald DCM, Okely JA, Ahola-Olli AV, Barnes CLK, Bertram L, Bis JC, Burdick KE, Christoforou A, DeRosse P, Djurovic S, Espeseth T, Giakoumaki S, Giddaluru S, Gustavson DE, Hayward C, Hofer E, Ikram MA, Karlsson R, Knowles E, Lahti J, Leber M, Li S, Mather KA, Melle I, Morris D, Oldmeadow C, Palviainen T, Payton A, Pazoki R, Petrovic K, Reynolds CA, Sargurupremraj M, Scholz M, Smith JA, Smith AV, Terzikhan N, Thalamuthu A, Trompet S, van der Lee SJ, Ware EB, Windham BG, Wright MJ, Yang J, Yu J, Ames D, Amin N, Amouyel P, Andreassen OA, Armstrong NJ, Assareh AA, Attia JR, Attix D, Avramopoulos D, Bennett DA, Böhmer AC, Boyle PA, Brodaty H, Campbell H, Cannon TD, Cirulli ET, Congdon E, Conley ED, Corley J, Cox SR, Dale AM, Dehghan A, Dick D, Dickinson D, Eriksson JG, Evangelou E, Faul JD, Ford I, Freimer NA, Gao H, Giegling I, Gillespie NA, Gordon SD, Gottesman RF, Griswold ME, Gudnason V, Harris TB, Hartmann AM, Hatzimanolis A, Heiss G, Holliday EG, Joshi PK, Kähönen M, Kardia SLR, Karlsson I, Kleineidam L, Knopman DS, Kochan NA, Konte B, Kwok JB, Le Hellard S, Lee T,… See abstract for full author list ➔ Davies G, et al. Nat Commun. 2018 May 29;9(1):2098. doi: 10.1038/s41467-018-04362-x. Nat Commun. 2018. PMID: 29844566 Free PMC article.
Within the novel genetic loci are variants associated with neurodegenerative and neurodevelopmental disorders, physical and psychiatric illnesses, and brain structure. Gene-based analyses find 709 genes associated with general cogn …
Within the novel genetic loci are variants associated with neurodegenerative and neurodevelopmental disorders, p …
Genetically regulated expression in late-onset Alzheimer's disease implicates risk genes within known and novel loci.
Chen HH, Petty LE, Sha J, Zhao Y, Kuzma A, Valladares O; Alzheimer’s Disease Genetics Consortium, International Genomics of Alzheimer’s Project; Bush W, Naj AC, Gamazon ER, Below JE. Chen HH, et al. Transl Psychiatry. 2021 Dec 6;11(1):618. doi: 10.1038/s41398-021-01677-0. Transl Psychiatry. 2021. PMID: 34873149 Free PMC article.
Late-onset Alzheimer disease (LOAD) is highly polygenic, with a heritability estimated between 40 and 80%, yet risk variants identified in genome-wide studies explain only ~8% of phenotypic variance. ...Here, we conducted GReX analysis within an
Late-onset Alzheimer disease (LOAD) is highly polygenic, with a heritability estimated between 40 and 80%, yet r
CDK5RAP2 gene and tau pathophysiology in late-onset sporadic Alzheimer's disease.
Miron J, Picard C, Nilsson N, Frappier J, Dea D, Théroux L; Alzheimer's Disease Neuroimaging Initiative; United Kingdom Brain Expression Consortium; Poirier J. Miron J, et al. Alzheimers Dement. 2018 Jun;14(6):787-796. doi: 10.1016/j.jalz.2017.12.004. Epub 2018 Jan 19. Alzheimers Dement. 2018. PMID: 29360470 Free article.
INTRODUCTION: Because currently known Alzheimer's disease (AD) single-nucleotide polymorphisms only account for a small fraction of the genetic variance in this disease, there is a need to identify new variants associated with AD. METHODS …
INTRODUCTION: Because currently known Alzheimer's disease (AD) single-nucleotide polymorphisms only account for a small …
Transcriptomic stratification of late-onset Alzheimer's cases reveals novel genetic modifiers of disease pathology.
Milind N, Preuss C, Haber A, Ananda G, Mukherjee S, John C, Shapley S, Logsdon BA, Crane PK, Carter GW. Milind N, et al. PLoS Genet. 2020 Jun 3;16(6):e1008775. doi: 10.1371/journal.pgen.1008775. eCollection 2020 Jun. PLoS Genet. 2020. PMID: 32492070 Free PMC article.
Late-Onset Alzheimer's disease (LOAD) is a common, complex genetic disorder well-known for its heterogeneous pathology. ...We then performed single variant association testing using whole genome-sequencing data for the novel
Late-Onset Alzheimer's disease (LOAD) is a common, complex genetic disorder well-known for its heterogene
Defining functional variants associated with Alzheimer's disease in the induced immune response.
Harwood JC, Leonenko G, Sims R, Escott-Price V, Williams J, Holmans P. Harwood JC, et al. Brain Commun. 2021 Apr 19;3(2):fcab083. doi: 10.1093/braincomms/fcab083. eCollection 2021. Brain Commun. 2021. PMID: 33959712 Free PMC article.
Defining the mechanisms involved in the aetiology of Alzheimer's disease from genome-wide association studies alone is challenging since Alzheimer's disease is polygenic and most genetic variants are non-coding. ...Many A
Defining the mechanisms involved in the aetiology of Alzheimer's disease from genome-wide association studies al …
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