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Page 1
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
Gharahkhani P, Jorgenson E, Hysi P, Khawaja AP, Pendergrass S, Han X, Ong JS, Hewitt AW, Segrè AV, Rouhana JM, Hamel AR, Igo RP Jr, Choquet H, Qassim A, Josyula NS, Cooke Bailey JN, Bonnemaijer PWM, Iglesias A, Siggs OM, Young TL, Vitart V, Thiadens AAHJ, Karjalainen J, Uebe S, Melles RB, Nair KS, Luben R, Simcoe M, Amersinghe N, Cree AJ, Hohn R, Poplawski A, Chen LJ, Rong SS, Aung T, Vithana EN; NEIGHBORHOOD consortium; ANZRAG consortium; Biobank Japan project; FinnGen study; UK Biobank Eye and Vision Consortium; GIGA study group; 23 and Me Research Team; Tamiya G, Shiga Y, Yamamoto M, Nakazawa T, Currant H, Birney E, Wang X, Auton A, Lupton MK, Martin NG, Ashaye A, Olawoye O, Williams SE, Akafo S, Ramsay M, Hashimoto K, Kamatani Y, Akiyama M, Momozawa Y, Foster PJ, Khaw PT, Morgan JE, Strouthidis NG, Kraft P, Kang JH, Pang CP, Pasutto F, Mitchell P, Lotery AJ, Palotie A, van Duijn C, Haines JL, Hammond C, Pasquale LR, Klaver CCW, Hauser M, Khor CC, Mackey DA, Kubo M, Cheng CY, Craig JE, MacGregor S, Wiggs JL. Gharahkhani P, et al. Among authors: lupton mk. Nat Commun. 2021 Feb 24;12(1):1258. doi: 10.1038/s41467-020-20851-4. Nat Commun. 2021. PMID: 33627673 Free PMC article.
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.
Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, Heun R, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Holmans PA, O'Donovan M, Owen MJ, Williams J. Harold D, et al. Among authors: lupton mk. Nat Genet. 2009 Oct;41(10):1088-93. doi: 10.1038/ng.440. Epub 2009 Sep 6. Nat Genet. 2009. PMID: 19734902 Free PMC article.
Deep sequencing of the Nicastrin gene in pooled DNA, the identification of genetic variants that affect risk of Alzheimer's disease.
Lupton MK, Proitsi P, Danillidou M, Tsolaki M, Hamilton G, Wroe R, Pritchard M, Lord K, Martin BM, Kloszewska I, Soininen H, Mecocci P, Vellas B, Harold D, Hollingworth P, Lovestone S, Powell JF. Lupton MK, et al. PLoS One. 2011 Feb 25;6(2):e17298. doi: 10.1371/journal.pone.0017298. PLoS One. 2011. PMID: 21364883 Free PMC article.
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Jones N, Stretton A, Thomas C, Richards A, Ivanov D, Widdowson C, Chapman J, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Beaumont H, Warden D, Wilcock G, Love S, Kehoe PG, Hooper NM, Vardy ER, Hardy J, Mead S, Fox NC, Rossor M, Collinge J, Maier W, Jessen F, Rüther E, Schürmann B, Heun R, Kölsch H, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Gallacher J, Hüll M, Rujescu D, Giegling I, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Pankratz VS, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Dickson DW, Graff-Radford NR, Petersen RC; Alzheimer's Disease Neuroimaging Initiative; van Duijn CM, B… See abstract for full author list ➔ Hollingworth P, et al. Among authors: lupton mk. Nat Genet. 2011 May;43(5):429-35. doi: 10.1038/ng.803. Epub 2011 Apr 3. Nat Genet. 2011. PMID: 21460840 Free PMC article.
Genome-wide association study of Alzheimer's disease with psychotic symptoms.
Hollingworth P, Sweet R, Sims R, Harold D, Russo G, Abraham R, Stretton A, Jones N, Gerrish A, Chapman J, Ivanov D, Moskvina V, Lovestone S, Priotsi P, Lupton M, Brayne C, Gill M, Lawlor B, Lynch A, Craig D, McGuinness B, Johnston J, Holmes C, Livingston G, Bass NJ, Gurling H, McQuillin A; GERAD Consortium; National Institute on Aging Late-Onset Alzheimer's Disease Family Study Group; Holmans P, Jones L, Devlin B, Klei L, Barmada MM, Demirci FY, DeKosky ST, Lopez OL, Passmore P, Owen MJ, O'Donovan MC, Mayeux R, Kamboh MI, Williams J. Hollingworth P, et al. Mol Psychiatry. 2012 Dec;17(12):1316-27. doi: 10.1038/mp.2011.125. Epub 2011 Oct 18. Mol Psychiatry. 2012. PMID: 22005930 Free PMC article.
Alzheimer's disease and age-related macular degeneration have different genetic models for complement gene variation.
Proitsi P, Lupton MK, Dudbridge F, Tsolaki M, Hamilton G, Daniilidou M, Pritchard M, Lord K, Martin BM, Johnson J, Craig D, Todd S, McGuinness B, Hollingworth P, Harold D, Kloszewska I, Soininen H, Mecocci P, Velas B, Gill M, Lawlor B, Rubinsztein DC, Brayne C, Passmore PA, Williams J, Lovestone S, Powell JF. Proitsi P, et al. Among authors: lupton mk. Neurobiol Aging. 2012 Aug;33(8):1843.e9-17. doi: 10.1016/j.neurobiolaging.2011.12.036. Epub 2012 Feb 1. Neurobiol Aging. 2012. PMID: 22300950
Genetic variants influencing human aging from late-onset Alzheimer's disease (LOAD) genome-wide association studies (GWAS).
Shi H, Belbin O, Medway C, Brown K, Kalsheker N, Carrasquillo M, Proitsi P, Powell J, Lovestone S, Goate A, Younkin S, Passmore P; Genetic and Environmental Risk for Alzheimer's Disease Consortium; Morgan K; Alzheimer's Research UK Consortium. Shi H, et al. Neurobiol Aging. 2012 Aug;33(8):1849.e5-18. doi: 10.1016/j.neurobiolaging.2012.02.014. Epub 2012 Mar 23. Neurobiol Aging. 2012. PMID: 22445811 Free PMC article.
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.
Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, Hsu S, Choi J, Ryten M, Sassi C, Bras J, Gibbs RJ, Hernandez DG, Lupton MK, Powell J, Forabosco P, Ridge PG, Corcoran CD, Tschanz JT, Norton MC, Munger RG, Schmutz C, Leary M, Demirci FY, Bamne MN, Wang X, Lopez OL, Ganguli M, Medway C, Turton J, Lord J, Braae A, Barber I, Brown K; Alzheimer's Research UK (ARUK) Consortium; Pastor P, Lorenzo-Betancor O, Brkanac Z, Scott E, Topol E, Morgan K, Rogaeva E, Singleton A, Hardy J, Kamboh MI, George-Hyslop PS, Cairns N, Morris JC, Kauwe JSK, Goate AM. Cruchaga C, et al. Among authors: lupton mk. Nature. 2014 Jan 23;505(7484):550-554. doi: 10.1038/nature12825. Epub 2013 Dec 11. Nature. 2014. PMID: 24336208 Free PMC article.
Missense variant in TREML2 protects against Alzheimer's disease.
Benitez BA, Jin SC, Guerreiro R, Graham R, Lord J, Harold D, Sims R, Lambert JC, Gibbs JR, Bras J, Sassi C, Harari O, Bertelsen S, Lupton MK, Powell J, Bellenguez C, Brown K, Medway C, Haddick PC, van der Brug MP, Bhangale T, Ortmann W, Behrens T, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Haines JL, Turton J, Braae A, Barber I, Fagan AM, Holtzman DM, Morris JC; 3C Study Group; EADI consortium; Alzheimer's Disease Genetic Consortium (ADGC); Alzheimer's Disease Neuroimaging Initiative (ADNI); GERAD Consortium; Williams J, Kauwe JS, Amouyel P, Morgan K, Singleton A, Hardy J, Goate AM, Cruchaga C. Benitez BA, et al. Among authors: lupton mk. Neurobiol Aging. 2014 Jun;35(6):1510.e19-26. doi: 10.1016/j.neurobiolaging.2013.12.010. Epub 2013 Dec 21. Neurobiol Aging. 2014. PMID: 24439484 Free PMC article.
Alleles that increase risk for type 2 diabetes mellitus are not associated with increased risk for Alzheimer's disease.
Proitsi P, Lupton MK, Velayudhan L, Hunter G, Newhouse S, Lin K, Fogh I, Tsolaki M, Daniilidou M, Pritchard M, Craig D, Todd S, Johnston JA, McGuinness B, Kloszewska I, Soininen H, Mecocci P, Vellas B, Passmore PA, Sims R, Williams J, Brayne C; Alzheimer's Disease Neuroimaging Initiative; GERAD1 Consortium; Stewart R, Sham P, Lovestone S, Powell JF. Proitsi P, et al. Among authors: lupton mk. Neurobiol Aging. 2014 Dec;35(12):2883.e3-2883.e10. doi: 10.1016/j.neurobiolaging.2014.07.023. Epub 2014 Jul 24. Neurobiol Aging. 2014. PMID: 25150574
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