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Page 1
SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease.
Nicolas G, Charbonnier C, Wallon D, Quenez O, Bellenguez C, Grenier-Boley B, Rousseau S, Richard AC, Rovelet-Lecrux A, Le Guennec K, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Génin E, Lambert JC, Hannequin D, Campion D; CNR-MAJ collaborators. Nicolas G, et al. Among authors: bellenguez c. Mol Psychiatry. 2016 Jun;21(6):831-6. doi: 10.1038/mp.2015.121. Epub 2015 Aug 25. Mol Psychiatry. 2016. PMID: 26303663
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.
Aung T, Ozaki M, Mizoguchi T, Allingham RR, Li Z, Haripriya A, Nakano S, Uebe S, Harder JM, Chan AS, Lee MC, Burdon KP, Astakhov YS, Abu-Amero KK, Zenteno JC, Nilgün Y, Zarnowski T, Pakravan M, Safieh LA, Jia L, Wang YX, Williams S, Paoli D, Schlottmann PG, Huang L, Sim KS, Foo JN, Nakano M, Ikeda Y, Kumar RS, Ueno M, Manabe S, Hayashi K, Kazama S, Ideta R, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Inoue K, Ishiko S, Yoshida A, Yanagi M, Kiuchi Y, Aihara M, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Matsuda F, Yamashiro K, Gotoh N, Miyake M, Astakhov SY, Osman EA, Al-Obeidan SA, Owaidhah O, Al-Jasim L, Al Shahwan S, Fogarty RA, Leo P, Yetkin Y, Oğuz Ç, Kanavi MR, Beni AN, Yazdani S, Akopov EL, Toh KY, Howell GR, Orr AC, Goh Y, Meah WY, Peh SQ, Kosior-Jarecka E, Lukasik U, Krumbiegel M, Vithana EN, Wong TY, Liu Y, Koch AE, Challa P, Rautenbach RM, Mackey DA, Hewitt AW, Mitchell P, Wang JJ, Ziskind A, Carmichael T, Ramakrishnan R, Narendran K, Venkatesh R, Vijayan S, Zhao P, Chen X, Guadarrama-Vallejo D, Cheng CY, Perera SA, Husain R, Ho SL, Welge-Luessen UC, Mardin C, Schloetzer-Schrehardt U, Hillmer AM, Herms S, Moebus S, Nöthen MM, Weisschuh N, Shetty R, Ghosh A, Teo … See abstract for full author list ➔ Aung T, et al. Nat Genet. 2015 Apr;47(4):387-92. doi: 10.1038/ng.3226. Epub 2015 Feb 23. Nat Genet. 2015. PMID: 25706626 Free PMC article.
GWAS meta-analysis of CSF Alzheimer's disease biomarkers 18,948 individuals reveal novel loci and genes regulating lipid metabolism, brain volume and autophagy.
Cruchaga C, Timsina J, Jiang C, McCartney D, Tao F, Dalmasso MC, Najar J, Anastasi F, Ohlei O, Puerta R, Bradley J, Western D, Ali M, Wang C, Yang C, Wu Y, Liu M, Budde J, Williams J, Mahoney R, Castillo A, Hohman T, Dumitrescu L, Wang TC, Tesi N, Kern S, Waern M, Skoog I, van Harten A, van der Flier W, Sánchez-Juan P, Rodriguez-Rodriguez E, Kleineidam L, Peters O, Schneider A, Küçükali F, Bellenguez C, Grenier-Boley B, Heikkinen S, de Rojas I, Rujescu D, Scherbaum N, Hausner L, Duzel E, Grimmer T, Wiltfang J, Vandenberghe R, Engelborghs S, Heilmann-Heimbach S, Schmid M, Tegos T, Scarmeas N, Dols-Icardo O, Moreno F, Pérez-Tur J, Bullido MJ, Sanchez-Valle R, Álvarez V, Garcia-Gonzalez P, Mir P, Real L, Piñol-Ripoll G, García-Alberca JM, Seelaar H, Ramakers I, Papma J, Hulsman M, Laske C, Teipel S, Priller J, Perneczky R, Buerger K, Nöthen M, Lewczuk P, Kornhuber J, Maier W, Hampel H, Giegling I, Goldhardt O, Diehl-Schmid J, Andrade V, Heneka M, Froelich L, Vogelgsang J, Graff C, Thonberg H, Ullgren A, Papenberg G, Boland A, Deleuze JF, Wagner M, Jessen F, Holstege H, van Duijn C, Lebouvier T, Hanon O, Leinonen V, Soininen H, Herukka SK, Giedraitis V, Löwenmark M, Kilander L,… See abstract for full author list ➔ Cruchaga C, et al. Among authors: bellenguez c. Res Sq [Preprint]. 2025 May 21:rs.3.rs-6597595. doi: 10.21203/rs.3.rs-6597595/v1. Res Sq. 2025. PMID: 40470240 Free PMC article. Preprint.
Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
Iglesias AI, Mishra A, Vitart V, Bykhovskaya Y, Höhn R, Springelkamp H, Cuellar-Partida G, Gharahkhani P, Bailey JNC, Willoughby CE, Li X, Yazar S, Nag A, Khawaja AP, Polašek O, Siscovick D, Mitchell P, Tham YC, Haines JL, Kearns LS, Hayward C, Shi Y, van Leeuwen EM, Taylor KD; Blue Mountains Eye Study - GWAS group; Bonnemaijer P, Rotter JI, Martin NG, Zeller T, Mills RA, Souzeau E, Staffieri SE, Jonas JB, Schmidtmann I, Boutin T, Kang JH, Lucas SEM, Wong TY, Beutel ME, Wilson JF; Wellcome Trust Case Control Consortium 2 (WTCCC2); NEIGHBORHOOD consortium; Uitterlinden AG, Vithana EN, Foster PJ, Hysi PG, Hewitt AW, Khor CC, Pasquale LR, Montgomery GW, Klaver CCW, Aung T, Pfeiffer N, Mackey DA, Hammond CJ, Cheng CY, Craig JE, Rabinowitz YS, Wiggs JL, Burdon KP, van Duijn CM, MacGregor S. Iglesias AI, et al. Nat Commun. 2019 Jan 8;10(1):155. doi: 10.1038/s41467-018-07819-1. Nat Commun. 2019. PMID: 30622277 Free PMC article.
APOE stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers's disease.
Thomassen JQ, Hampton L, Ulms B, Grenier-Boley B, Heikkinen S, Garcia P, Castillo-Morales A, Kikuchi M, Gim J, Cao H, Küçükali F, Amin N, Yoon D, de Rojas I, Jerez PA, Alvarez V, Arosio B, Bellenguez C, Bergh S, Billingsley K, Blauwendraat C, Boada M, Borroni B, Bossù P, Bullido MJ, Daniele A, Carracedo Á, de Mendonça A, Cookson M, Deckert J, Dichgans M, Djurovic S, Dols-Icardo O, Dufouil C, Düzel E, Escott-Price V, Fladby T, Fratiglioni L, Fu AKY, Galimberti D, García-Alberca JM, Giedraitis V, Garcia-Ribas G, Graff C, Grimmer T, Grünblatt E, Hanon O, Hausner L, Heilmann-Hemibach S, Hort J, Jessen F, Jensen K, Jonson C, Kim Y, Kuznetsov N, Leinonen V, Lipponen A, Luo J, Makarious M, Martiskainen H, Masullo C, Mecocci P, Mehrabian S, Mir P, Miyashita A, Moebus S, Mok KY, Porcel LM, Moreno F, Nacmias B, Parnetti L, Pastor P, Pérez-Tur J, Peters O, Pijnenburg YAL, Piñol-Ripoll G, Popp J, Rainero I, Real LM, Riedel-Heller S, Rodriguez-Rodriguez E, Rongve A, Rossi G, Royo JL, Rujescu D, Saltvedt I, Sáez ME, Sánchez-Valle R, Sanchez-Garcia F, Sandau N, Scarmeas N, Scheffler K, Scherbaum N, Schneider A, Selbæk G, Seripa D, Solfrizzi V, Spallazzi M, Squassina A, Stordal E, Tesi N, … See abstract for full author list ➔ Thomassen JQ, et al. Among authors: bellenguez c. medRxiv [Preprint]. 2025 May 9:2025.05.07.25327065. doi: 10.1101/2025.05.07.25327065. medRxiv. 2025. PMID: 40385391 Free PMC article. Preprint.
TREM2 variants in Alzheimer's disease.
Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, Lambert JC, Amouyel P, Goate A, Rademakers R, Morgan K, Powell J, St George-Hyslop P, Singleton A, Hardy J; Alzheimer Genetic Analysis Group. Guerreiro R, et al. N Engl J Med. 2013 Jan 10;368(2):117-27. doi: 10.1056/NEJMoa1211851. Epub 2012 Nov 14. N Engl J Med. 2013. PMID: 23150934 Free PMC article.
Common variant at 16p11.2 conferring risk of psychosis.
Steinberg S, de Jong S, Mattheisen M, Costas J, Demontis D, Jamain S, Pietiläinen OP, Lin K, Papiol S, Huttenlocher J, Sigurdsson E, Vassos E, Giegling I, Breuer R, Fraser G, Walker N, Melle I, Djurovic S, Agartz I, Tuulio-Henriksson A, Suvisaari J, Lönnqvist J, Paunio T, Olsen L, Hansen T, Ingason A, Pirinen M, Strengman E; GROUP; Hougaard DM, Orntoft T, Didriksen M, Hollegaard MV, Nordentoft M, Abramova L, Kaleda V, Arrojo M, Sanjuán J, Arango C, Etain B, Bellivier F, Méary A, Schürhoff F, Szoke A, Ribolsi M, Magni V, Siracusano A, Sperling S, Rossner M, Christiansen C, Kiemeney LA, Franke B, van den Berg LH, Veldink J, Curran S, Bolton P, Poot M, Staal W, Rehnstrom K, Kilpinen H, Freitag CM, Meyer J, Magnusson P, Saemundsen E, Martsenkovsky I, Bikshaieva I, Martsenkovska I, Vashchenko O, Raleva M, Paketchieva K, Stefanovski B, Durmishi N, Pejovic Milovancevic M, Lecic Tosevski D, Silagadze T, Naneishvili N, Mikeladze N, Surguladze S, Vincent JB, Farmer A, Mitchell PB, Wright A, Schofield PR, Fullerton JM, Montgomery GW, Martin NG, Rubino IA, van Winkel R, Kenis G, De Hert M, Réthelyi JM, Bitter I, Terenius L, Jönsson EG, Bakker S, van Os J, Jablensky A, Leboyer M, Bramon E, Pow… See abstract for full author list ➔ Steinberg S, et al. Mol Psychiatry. 2014 Jan;19(1):108-14. doi: 10.1038/mp.2012.157. Epub 2012 Nov 20. Mol Psychiatry. 2014. PMID: 23164818 Free PMC article.
Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology.
Chapuis J, Hansmannel F, Gistelinck M, Mounier A, Van Cauwenberghe C, Kolen KV, Geller F, Sottejeau Y, Harold D, Dourlen P, Grenier-Boley B, Kamatani Y, Delepine B, Demiautte F, Zelenika D, Zommer N, Hamdane M, Bellenguez C, Dartigues JF, Hauw JJ, Letronne F, Ayral AM, Sleegers K, Schellens A, Broeck LV, Engelborghs S, De Deyn PP, Vandenberghe R, O'Donovan M, Owen M, Epelbaum J, Mercken M, Karran E, Bantscheff M, Drewes G, Joberty G, Campion D, Octave JN, Berr C, Lathrop M, Callaerts P, Mann D, Williams J, Buée L, Dewachter I, Van Broeckhoven C, Amouyel P, Moechars D, Dermaut B, Lambert JC; GERAD consortium. Chapuis J, et al. Among authors: bellenguez c. Mol Psychiatry. 2013 Nov;18(11):1225-34. doi: 10.1038/mp.2013.1. Epub 2013 Feb 12. Mol Psychiatry. 2013. PMID: 23399914 Free PMC article.
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, DeStafano AL, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thorton-Wells TA, Jones N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Gerrish A, Schmidt H, Kunkle B, Dunstan ML, Ruiz A, Bihoreau MT, Choi SH, Reitz C, Pasquier F, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Morón FJ, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MW, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuiness B, Larson EB, Green R, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, St George-Hyslop P, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Sanchez-Garcia F, Fox NC, Hardy J, Deniz Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Mancuso M, Matthews F; European Alzheimer's Disease Initiative (EADI); Genetic and Environmental Risk in Alzheimer's Disease; Alzheimer's Disease Genetic Consortium; Cohorts for Heart and Aging Research in Genomic Epidemiology; Moebus S, Mecocci P,… See abstract for full author list ➔ Lambert JC, et al. Among authors: bellenguez c. Nat Genet. 2013 Dec;45(12):1452-8. doi: 10.1038/ng.2802. Epub 2013 Oct 27. Nat Genet. 2013. PMID: 24162737 Free PMC article.
Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.
Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, Jun G, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Denning N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Schmidt H, Kunkle B, Dunstan ML, Vronskaya M; United Kingdom Brain Expression Consortium; Johnson AD, Ruiz A, Bihoreau MT, Reitz C, Pasquier F, Hollingworth P, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Hernández I, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, George-Hyslop PS, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Garcia FS, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Scarpini E,… See abstract for full author list ➔ Escott-Price V, et al. Among authors: bellenguez c. PLoS One. 2014 Jun 12;9(6):e94661. doi: 10.1371/journal.pone.0094661. eCollection 2014. PLoS One. 2014. PMID: 24922517 Free PMC article.
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