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Parcourir par sujet "Genome-Wide Association Study"

Voici les éléments 21-39 de 39

    • Lack of an association between SCFD1 rs10139154 polymorphism and amyotrophic lateral sclerosis 

      Siokas V., Aloizou A.-M., Liampas I., Bakirtzis C., Nasios G., Paterakis K., Sgantzos M., Bogdanos D.P., Spandidos D.A., Tsatsakis A., Mitsias P.D., Dardiotis E. (2022)
      Amyotrophic lateral sclerosis (AL S) is a progressive neurodegenerative disease. Through a genome-wide association study (GWAS), the Sec1 family domain-containing protein 1 (SCFD1) rs10139154 variant at 14q12 has emerged ...

    • A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants 

      Fritsche L.G., Igl W., Bailey J.N.C., Grassmann F., Sengupta S., Bragg-Gresham J.L., Burdon K.P., Hebbring S.J., Wen C., Gorski M., Kim I.K., Cho D., Zack D., Souied E., Scholl H.P.N., Bala E., ELee K., Hunter D.J., Sardell R.J., Mitchell P., Merriam J.E., Cipriani V., Hoffman J.D., Schick T., Lechanteur Y.T.E., Guymer R.H., Johnson M.P., Jiang Y., Stanton C.M., Buitendijk G.H.S., Zhan X., Kwong A.M., Boleda A., Brooks M., Gieser L., Ratnapriya R., Branham K.E., Foerster J.R., Heckenlively J.R., Othman M.I., Vote B.J., Liang H.H., Souzeau E., McAllister I.L., Isaacs T., Hall J., Lake S., Mackey D.A., Constable I.J., Craig J.E., Kitchner T.E., Yang Z., Su Z., Luo H., Chen D., Ouyang H., Flagg K., Lin D., Mao G., Ferreyra H., Stark K., Von Strachwitz C.N., Wolf A., Brandl C., Rudolph G., Olden M., Morrison M.A., Morgan D.J., Schu M., Ahn J., Silvestri G., Tsironi E.E., Park K.H., Farrer L.A., Orlin A., Brucker A., Li M., Curcio C.A., Mohand-Sa'd S., Sahel J.-A., Audo I., Benchaboune M., Cree A.J., Rennie C.A., Goverdhan S.V., Grunin M., Hagbi-Levi S., Campochiaro P., Katsanis N., Holz F.G., Blond F., Blanché H., Deleuze J.-F., Igo R.P., Jr., Truitt B., Peachey N.S., Meuer S.M., Myers C.E., Moore E.L., Klein R., Hauser M.A., Postel E.A., Courtenay M.D., Schwartz S.G., Kovach J.L., Scott W.K., Liew G., Tan A.G., Gopinath B., Merriam J.C., Smith R.T., Khan J.C., Shahid H., Moore A.T., McGrath J.A., Laux R., Brantley M.A., Jr., Agarwal A., Ersoy L., Caramoy A., Langmann T., Saksens N.T.M., Jong E.K., Hoyng C.B., Cain M.S., Richardson A.J., Martin T.M., Blangero J., Weeks D.E., Dhillon B., Van Duijn C.M., Doheny K.F., Romm J., Klaver C.C.W., Hayward C., Gorin M.B., Klein M.L., Baird P.N., Den Hollander A.I., Fauser S., WYates J.R., Allikmets R., Wang J.J., Schaumberg D.A., Klein B.E.K., Hagstrom S.A., Chowers I., Lotery A.J., Léveillard T., Zhang K., Brilliant M.H., Hewitt A.W., Swaroop A., Chew E.Y., Pericak-Vance M.A., DeAngelis M., Stambolian D., Haines J.L., Iyengar S.K., Weber B.H.F., Abecasis G.R., Heid I.M. (2016)
      Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, ...

    • Large replication study and meta-analyses of DVWA as an osteoarthritis susceptibility locus in European and Asian populations 

      Meulenbelt, I.; Chapman, K.; Dieguez-Gonzalez, R.; Shi, D.; Tsezou, A.; Dai, J.; Malizos, K. N.; Kloppenburg, M.; Carr, A.; Nakajima, M.; van der Breggen, R.; Lakenberg, N.; Gomez-Reino, J. J.; Jiang, Q.; Ikegawa, S.; Gonzalez, A.; Loughlin, J.; Slagboom, E. P. (2009)
      Recently, through a genome wide association study in Japanese knee osteoarthritis (OA) cases, a previously unknown gene, DVWA, was identified. The non-synonymous single nucleotide polymorphism (SNP) rs7639618 was subsequently ...

    • A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease 

      Krüger, R.; Sharma, M.; Riess, O.; Gasser, T.; Van Broeckhoven, C.; Theuns, J.; Aasly, J.; Annesi, G.; Bentivoglio, A. R.; Brice, A.; Djarmati, A.; Elbaz, A.; Farrer, M.; Ferrarese, C.; Gibson, J. M.; Hadjigeorgiou, G. M.; Hattori, N.; Ioannidis, J. P. A.; Jasinska-Myga, B.; Klein, C.; Lambert, J. C.; Lesage, S.; Lin, J. J.; Lynch, T.; Mellick, G. D.; de Nigris, F.; Opala, G.; Prigione, A.; Quattrone, A.; Ross, O. A.; Satake, W.; Silburn, P. A.; Tan, E. K.; Toda, T.; Tomiyama, H.; Wirdefeldt, K.; Wszolek, Z.; Xiromerisiou, G.; Maraganore, D. M. (2011)
      High-profile studies have provided conflicting results regarding the involvement of the Omi/HtrA2 gene in Parkinson's disease (PD) susceptibility. Therefore, we performed a large-scale analysis of the association of common ...

    • Large-scale replication and heterogeneity in Parkinson disease genetic loci 

      Sharma, M.; Ioannidis, J. P. A.; Aasly, J. O.; Annesi, G.; Brice, A.; Van Broeckhoven, C.; Bertram, L.; Bozi, M.; Crosiers, D.; Clarke, C.; Facheris, M.; Farrer, M.; Garraux, G.; Gispert, S.; Auburger, G.; Vilariño-Güell, C.; Hadjigeorgiou, G. M.; Hicks, A. A.; Hattori, N.; Jeon, B.; Lesage, S.; Lill, C. M.; Lin, J. J.; Lynch, T.; Lichtner, P.; Lang, A. E.; Mok, V.; Jasinska-Myga, B.; Mellick, G. D.; Morrison, K. E.; Opala, G.; Pramstaller, P. P.; Pichler, I.; Park, S. S.; Quattrone, A.; Rogaeva, E.; Ross, O. A.; Stefanis, L.; Stockton, J. D.; Satake, W.; Silburn, P. A.; Theuns, J.; Tan, E. K.; Toda, T.; Tomiyama, H.; Uitti, R. J.; Wirdefeldt, K.; Wszolek, Z.; Xiromerisiou, G.; Yueh, K. C.; Zhao, Y.; Gasser, T.; Maraganore, D.; Krüger, R. (2012)
      Objective: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which ...

    • Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease 

      Domenighetti C., Sugier P.-E., Sreelatha A.A.K., Schulte C., Grover S., Mohamed O., Portugal B., May P., Bobbili D.R., Radivojkov-Blagojevic M., Lichtner P., Singleton A.B., Hernandez D.G., Edsall C., Mellick G.D., Zimprich A., Pirker W., Rogaeva E., Lang A.E., Koks S., Taba P., Lesage S., Brice A., Corvol J.-C., Chartier-Harlin M.-C., Mutez E., Brockmann K., Deutschländer A.B., Hadjigeorgiou G.M., Dardiotis E., Stefanis L., Simitsi A.M., Valente E.M., Petrucci S., Duga S., Straniero L., Zecchinelli A., Pezzoli G., Brighina L., Ferrarese C., Annesi G., Quattrone A., Gagliardi M., Matsuo H., Kawamura Y., Hattori N., Nishioka K., Chung S.J., Kim Y.J., Kolber P., Van De Warrenburg B.P.C., Bloem B.R., Aasly J., Toft M., Pihlstrøm L., Guedes L.C., Ferreira J.J., Bardien S., Carr J., Tolosa E., Ezquerra M., Pastor P., Diez-Fairen M., Wirdefeldt K., Pedersen N.L., Ran C., Belin A.C., Puschmann A., Hellberg C., Clarke C.E., Morrison K.E., Tan M., Krainc D., Burbulla L.F., Farrer M.J., Krüger R., Gasser T., Sharma M., Elbaz A. (2022)
      Background: Previous studies showed that lifestyle behaviors (cigarette smoking, alcohol, coffee) are inversely associated with Parkinson's disease (PD). The prodromal phase of PD raises the possibility that these associations ...

    • A meta-analysis of FZD3 gene polymorphisms and their association with schizophrenia 

      Pantavou K.G., Braliou G.G., Kontou P.I., Dimou N.L., Bagos P.G. (2016)
      Objective The aim of this study was to investigate the potential association of FZD3 polymorphisms with schizophrenia. Methods A systematic review and a meta-analysis were carried out comprising of nine genetic association ...

    • Meta-analysis of gene expression data in adipose tissue reveals new obesity associated genes 

      Goutzelas Y., Kontou P., Mamuris Z., Bagos P., Sarafidou T. (2022)
      High-throughput transcriptomic and proteomic data like microarray data are deposited in public databases such as Gene Expression Omnibus (GEO). Omics data integration and processing from different and independent studies ...

    • Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22 

      Evangelou, E.; Valdes, A. M.; Kerkhof, H. J. M.; Styrkarsdottir, U.; Zhu, Y.; Meulenbelt, I.; Lories, R. J.; Karassa, F. B.; Tylzanowski, P.; Bos, S. D.; Rayner, N. W.; Southam, L.; Zhai, G.; Elliott, K. S.; Hunt, S. E.; Blackburn, H.; Potter, S. C.; Day-Williams, A. G.; Beazley, C.; Akune, T.; Arden, N. K.; Carr, A.; Chapman, K.; Cupples, L. A.; Dai, J.; Deloukas, P.; Doherty, M.; Doherty, S.; Engstrom, G.; Gonzalez, A.; Halldorsson, B. V.; Hammond, C. L.; Hart, D. J.; Helgadottir, H.; Hofman, A.; Ikegawa, S.; Ingvarsson, T.; Jiang, Q.; Jonsson, H.; Kaprio, J.; Kawaguchi, H.; Kisand, K.; Kloppenburg, M.; Kujala, U. M.; Lohmander, L. S.; Loughlin, J.; Luyten, F. P.; Mabuchi, A.; McCaskie, A.; Nakajima, M.; Nilsson, P. M.; Nishida, N.; Ollier, W. E. R.; Panoutsopoulou, K.; Van De Putte, T.; Ralston, S. H.; Rivadeneira, F.; Saarela, J.; Schulte-Merker, S.; Shi, D.; Slagboom, P. E.; Sudo, A.; Tamm, A.; Thorleifsson, G.; Thorsteinsdottir, U.; Tsezou, A.; Wallis, G. A.; Wilkinson, J. M.; Yoshimura, N.; Zeggini, E.; Zhang, F.; Jonsdottir, I.; Uitterlinden, A. G.; Felson, D. T.; Van Meurs, J. B.; Stefansson, K.; Ioannidis, J. P. A.; Spector, T. D. (2011)
      Objectives: Osteoarthritis (OA) is the most prevalent form of arthritis and accounts for substantial morbidity and disability, particularly in older people. It is characterised by changes in joint structure, including ...

    • New insights into the genetic etiology of Alzheimer’s disease and related dementias 

      Bellenguez C., Küçükali F., Jansen I.E., Kleineidam L., Moreno-Grau S., Amin N., Naj A.C., Campos-Martin R., Grenier-Boley B., Andrade V., Holmans P.A., Boland A., Damotte V., van der Lee S.J., Costa M.R., Kuulasmaa T., Yang Q., de Rojas I., Bis J.C., Yaqub A., Prokic I., Chapuis J., Ahmad S., Giedraitis V., Aarsland D., Garcia-Gonzalez P., Abdelnour C., Alarcón-Martín E., Alcolea D., Alegret M., Alvarez I., Álvarez V., Armstrong N.J., Tsolaki A., Antúnez C., Appollonio I., Arcaro M., Archetti S., Pastor A.A., Arosio B., Athanasiu L., Bailly H., Banaj N., Baquero M., Barral S., Beiser A., Pastor A.B., Below J.E., Benchek P., Benussi L., Berr C., Besse C., Bessi V., Binetti G., Bizarro A., Blesa R., Boada M., Boerwinkle E., Borroni B., Boschi S., Bossù P., Bråthen G., Bressler J., Bresner C., Brodaty H., Brookes K.J., Brusco L.I., Buiza-Rueda D., Bûrger K., Burholt V., Bush W.S., Calero M., Cantwell L.B., Chene G., Chung J., Cuccaro M.L., Carracedo Á., Cecchetti R., Cervera-Carles L., Charbonnier C., Chen H.-H., Chillotti C., Ciccone S., Claassen J.A.H.R., Clark C., Conti E., Corma-Gómez A., Costantini E., Custodero C., Daian D., Dalmasso M.C., Daniele A., Dardiotis E., Dartigues J.-F., de Deyn P.P., de Paiva Lopes K., de Witte L.D., Debette S., Deckert J., del Ser T., Denning N., DeStefano A., Dichgans M., Diehl-Schmid J., Diez-Fairen M., Rossi P.D., Djurovic S., Duron E., Düzel E., Dufouil C., Eiriksdottir G., Engelborghs S., Escott-Price V., Espinosa A., Ewers M., Faber K.M., Fabrizio T., Nielsen S.F., Fardo D.W., Farotti L., Fenoglio C., Fernández-Fuertes M., Ferrari R., Ferreira C.B., Ferri E., Fin B., Fischer P., Fladby T., Fließbach K., Fongang B., Fornage M., Fortea J., Foroud T.M., Fostinelli S., Fox N.C., Franco-Macías E., Bullido M.J., Frank-García A., Froelich L., Fulton-Howard B., Galimberti D., García-Alberca J.M., García-González P., Garcia-Madrona S., Garcia-Ribas G., Ghidoni R., Giegling I., Giorgio G., Goate A.M., Goldhardt O., Gomez-Fonseca D., González-Pérez A., Graff C., Grande G., Green E., Grimmer T., Grünblatt E., Grunin M., Gudnason V., Guetta-Baranes T., Haapasalo A., Hadjigeorgiou G., Haines J.L., Hamilton-Nelson K.L., Hampel H., Hanon O., Hardy J., Hartmann A.M., Hausner L., Harwood J., Heilmann-Heimbach S., Helisalmi S., Heneka M.T., Hernández I., Herrmann M.J., Hoffmann P., Holmes C., Holstege H., Vilas R.H., Hulsman M., Humphrey J., Biessels G.J., Jian X., Johansson C., Jun G.R., Kastumata Y., Kauwe J., Kehoe P.G., Kilander L., Ståhlbom A.K., Kivipelto M., Koivisto A., Kornhuber J., Kosmidis M.H., Kukull W.A., Kuksa P.P., Kunkle B.W., Kuzma A.B., Lage C., Laukka E.J., Launer L., Lauria A., Lee C.-Y., Lehtisalo J., Lerch O., Lleó A., Longstreth W., Jr, Lopez O., de Munain A.L., Love S., Löwemark M., Luckcuck L., Lunetta K.L., Ma Y., Macías J., MacLeod C.A., Maier W., Mangialasche F., Spallazzi M., Marquié M., Marshall R., Martin E.R., Montes A.M., Rodríguez C.M., Masullo C., Mayeux R., Mead S., Mecocci P., Medina M., Meggy A., Mehrabian S., Mendoza S., Menéndez-González M., Mir P., Moebus S., Mol M., Molina-Porcel L., Montrreal L., Morelli L., Moreno F., Morgan K., Mosley T., Nöthen M.M., Muchnik C., Mukherjee S., Nacmias B., Ngandu T., Nicolas G., Nordestgaard B.G., Olaso R., Orellana A., Orsini M., Ortega G., Padovani A., Paolo C., Papenberg G., Parnetti L., Pasquier F., Pastor P., Peloso G., Pérez-Cordón A., Pérez-Tur J., Pericard P., Peters O., Pijnenburg Y.A.L., Pineda J.A., Piñol-Ripoll G., Pisanu C., Polak T., Popp J., Posthuma D., Priller J., Puerta R., Quenez O., Quintela I., Thomassen J.Q., Rábano A., Rainero I., Rajabli F., Ramakers I., Real L.M., Reinders M.J.T., Reitz C., Reyes-Dumeyer D., Ridge P., Riedel-Heller S., Riederer P., Roberto N., Rodriguez-Rodriguez E., Rongve A., Allende I.R., Rosende-Roca M., Royo J.L., Rubino E., Rujescu D., Sáez M.E., Sakka P., Saltvedt I., Sanabria Á., Sánchez-Arjona M.B., Sanchez-Garcia F., Juan P.S., Sánchez-Valle R., Sando S.B., Sarnowski C., Satizabal C.L., Scamosci M., Scarmeas N., Scarpini E., Scheltens P., Scherbaum N., Scherer M., Schmid M., Schneider A., Schott J.M., Selbæk G., Seripa D., Serrano M., Sha J., Shadrin A.A., Skrobot O., Slifer S., Snijders G.J.L., Soininen H., Solfrizzi V., Solomon A., Song Y., Sorbi S., Sotolongo-Grau O., Spalletta G., Spottke A., Squassina A., Stordal E., Tartan J.P., Tárraga L., Tesí N., Thalamuthu A., Thomas T., Tosto G., Traykov L., Tremolizzo L., Tybjærg-Hansen A., Uitterlinden A., Ullgren A., Ulstein I., Valero S., Valladares O., Broeckhoven C.V., Vance J., Vardarajan B.N., van der Lugt A., Dongen J.V., van Rooij J., van Swieten J., Vandenberghe R., Verhey F., Vidal J.-S., Vogelgsang J., Vyhnalek M., Wagner M., Wallon D., Wang L.-S., Wang R., Weinhold L., Wiltfang J., Windle G., Woods B., Yannakoulia M., Zare H., Zhao Y., Zhang X., Zhu C., Zulaica M., Laczo J., Matoska V., Serpente M., Assogna F., Piras F., Piras F., Ciullo V., Shofany J., Ferrarese C., Andreoni S., Sala G., Zoia C.P., Zompo M.D., Benussi A., Bastiani P., Takalo M., Natunen T., Laatikainen T., Tuomilehto J., Antikainen R., Strandberg T., Lindström J., Peltonen M., Abraham R., Al-Chalabi A., Bass N.J., Brayne C., Brown K.S., Collinge J., Craig D., Deloukas P., Fox N., Gerrish A., Gill M., Gwilliam R., Harold D., Hollingworth P., Johnston J.A., Jones L., Lawlor B., Livingston G., Lovestone S., Lupton M., Lynch A., Mann D., McGuinness B., McQuillin A., O’Donovan M.C., Owen M.J., Passmore P., Powell J.F., Proitsi P., Rossor M., Shaw C.E., Smith A.D., Gurling H., Todd S., Mummery C., Ryan N., Lacidogna G., Adarmes-Gómez A., Mauleón A., Pancho A., Gailhajenet A., Lafuente A., Macias-García D., Martín E., Pelejà E., Carrillo F., Merlín I.S., Garrote-Espina L., Vargas L., Carrion-Claro M., Marín M., Labrador M., Buendia M., Alonso M.D., Guitart M., Moreno M., Ibarria M., Periñán M., Aguilera N., Gómez-Garre P., Cañabate P., Escuela R., Pineda-Sánchez R., Vigo-Ortega R., Jesús S., Preckler S., Rodrigo-Herrero S., Diego S., Vacca A., Roveta F., Salvadori N., Chipi E., Boecker H., Laske C., Perneczky R., Anastasiou C., Janowitz D., Malik R., Anastasiou A., Parveen K., Lage C., López-García S., Antonell A., Mihova K.Y., Belezhanska D., Weber H., Kochen S., Solis P., Medel N., Lisso J., Sevillano Z., Politis D.G., Cores V., Cuesta C., Ortiz C., Bacha J.I., Rios M., Saenz A., Abalos M.S., Kohler E., Palacio D.L., Etchepareborda I., Kohler M., Novack G., Prestia F.A., Galeano P., Castaño E.M., Germani S., Toso C.R., Rojo M., Ingino C., Mangone C., Rubinsztein D.C., Teipel S., Fievet N., Deramerourt V., Forsell C., Thonberg H., Bjerke M., Roeck E.D., Martínez-Larrad M.T., Olivar N., Aguilera N., Cano A., Cañabate P., Macias J., Maroñas O., Nuñez-Llaves R., Olivé C., Pelejá E., Adarmes-Gómez A.D., Alonso M.D., Amer-Ferrer G., Antequera M., Burguera J.A., Carrillo F., Carrión-Claro M., Casajeros M.J., Martinez de Pancorbo M., Escuela R., Garrote-Espina L., Gómez-Garre P., Hevilla S., Jesús S., Espinosa M.A.L., Legaz A., López-García S., Macias-García D., Manzanares S., Marín M., Marín-Muñoz J., Marín T., Martínez B., Martínez V., Martínez-Lage Álvarez P., Iriarte M.M., Periñán-Tocino M.T., Pineda-Sánchez R., Real de Asúa D., Rodrigo S., Sastre I., Vicente M.P., Vigo-Ortega R., Vivancos L., Epelbaum J., Hannequin D., campion D., Deramecourt V., Tzourio C., Brice A., Dubois B., Williams A., Thomas C., Davies C., Nash W., Dowzell K., Morales A.C., Bernardo-Harrington M., Turton J., Lord J., Brown K., Vardy E., Fisher E., Warren J.D., Rossor M., Ryan N.S., Guerreiro R., Uphill J., Bass N., Heun R., Kölsch H., Schürmann B., Lacour A., Herold C., Johnston J.A., Passmore P., Powell J., Patel Y., Hodges A., Becker T., Warden D., Wilcock G., Clarke R., Deloukas P., Ben-Shlomo Y., Hooper N.M., Pickering-Brown S., Sussams R., Warner N., Bayer A., Heuser I., Drichel D., Klopp N., Mayhaus M., Riemenschneider M., Pinchler S., Feulner T., Gu W., van den Bussche H., Hüll M., Frölich L., Wichmann H.-E., Jöckel K.-H., O’Donovan M., Owen M., Bahrami S., Bosnes I., Selnes P., Bergh S., Palotie A., Daly M., Jacob H., Matakidou A., Runz H., John S., Plenge R., McCarthy M., Hunkapiller J., Ehm M., Waterworth D., Fox C., Malarstig A., Klinger K., Call K., Behrens T., Loerch P., Mäkelä T., Kaprio J., Virolainen P., Pulkki K., Kilpi T., Perola M., Partanen J., Pitkäranta A., Kaarteenaho R., Vainio S., Turpeinen M., Serpi R., Laitinen T., Mäkelä J., Kosma V.-M., Kujala U., Tuovila O., Hendolin M., Pakkanen R., Waring J., Riley-Gillis B., Liu J., Biswas S., Diogo D., Marshall C., Hu X., Gossel M., Graham R., Cummings B., Ripatti S., Schleutker J., Arvas M., Carpén O., Hinttala R., Kettunen J., Mannermaa A., Laukkanen J., Julkunen V., Remes A., Kälviäinen R., Peltola J., Tienari P., Rinne J., Ziemann A., Waring J., Esmaeeli S., Smaoui N., Lehtonen A., Eaton S., Lahdenperä S., van Adelsberg J., Michon J., Kerchner G., Bowers N., Teng E., Eicher J., Mehta V., Gormley P., Linden K., Whelan C., Xu F., Pulford D., Färkkilä M., Pikkarainen S., Jussila A., Blomster T., Kiviniemi M., Voutilainen M., Georgantas B., Heap G., Rahimov F., Usiskin K., Lu T., Oh D., Kalpala K., Miller M., McCarthy L., Eklund K., Palomäki A., Isomäki P., Pirilä L., Kaipiainen-Seppänen O., Huhtakangas J., Lertratanakul A., Hochfeld M., Bing N., Gordillo J.E., Mars N., Pelkonen M., Kauppi P., Kankaanranta H., Harju T., Close D., Greenberg S., Chen H., Betts J., Ghosh S., Salomaa V., Niiranen T., Juonala M., Metsärinne K., Kähönen M., Junttila J., Laakso M., Pihlajamäki J., Sinisalo J., Taskinen M.-R., Tuomi T., Challis B., Peterson A., Chu A., Parkkinen J., Muslin A., Joensuu H., Meretoja T., Aaltonen L., Mattson J., Auranen A., Karihtala P., Kauppila S., Auvinen P., Elenius K., Popovic R., Schutzman J., Loboda A., Chhibber A., Lehtonen H., McDonough S., Crohns M., Kulkarni D., Kaarniranta K., Turunen J.A., Ollila T., Seitsonen S., Uusitalo H., Aaltonen V., Uusitalo-Järvinen H., Luodonpää M., Hautala N., Loomis S., Strauss E., Chen H., Podgornaia A., Hoffman J., Tasanen K., Huilaja L., Hannula-Jouppi K., Salmi T., Peltonen S., Koulu L., Harvima I., Wu Y., Choy D., Pussinen P., Salminen A., Salo T., Rice D., Nieminen P., Palotie U., Siponen M., Suominen L., Mäntylä P., Gursoy U., Anttonen V., Sipilä K., Davis J.W., Quarless D., Petrovski S., Wigmore E., Chen C.-Y., Bronson P., Tsai E., Huang Y., Maranville J., Shaikho E., Mohammed E., Wadhawan S., Kvikstad E., Caliskan M., Chang D., Bhangale T., Pendergrass S., Holzinger E., Chen X., Hedman Å., King K.S., Wang C., Xu E., Auge F., Chatelain C., Rajpal D., Liu D., Call K., Xia T.-H., Brauer M., Kurki M., Karjalainen J., Havulinna A., Jalanko A., Palta P., della Briotta Parolo P., Zhou W., Lemmelä S., Rivas M., Harju J., Lehisto A., Ganna A., Llorens V., Laivuori H., Rüeger S., Niemi M.E., Tukiainen T., Reeve M.P., Heyne H., Palin K., Garcia-Tabuenca J., Siirtola H., Kiiskinen T., Lee J., Tsuo K., Elliott A., Kristiansson K., Hyvärinen K., Ritari J., Koskinen M., Pylkäs K., Kalaoja M., Karjalainen M., Mantere T., Kangasniemi E., Heikkinen S., Laakkonen E., Sipeky C., Heron S., Karlsson A., Jambulingam D., Rathinakannan V.S., Kajanne R., Aavikko M., Jiménez M.G., della Briotta Parola P., Lehistö A., Kanai M., Kaunisto M., Kilpeläinen E., Sipilä T.P., Brein G., Awaisa G., Shcherban A., Donner K., Loukola A., Laiho P., Sistonen T., Kaiharju E., Laukkanen M., Järvensivu E., Lähteenmäki S., Männikkö L., Wong R., Mattsson H., Hiekkalinna T., Paajanen T., Pärn K., Gracia-Tabuenca J., Abner E., Adams P.M., Aguirre A., Albert M.S., Albin R.L., Allen M., Alvarez L., Apostolova L.G., Arnold S.E., Asthana S., Atwood C.S., Ayres G., Baldwin C.T., Barber R.C., Barnes L.L., Barral S., Beach T.G., Becker J.T., Beecham G.W., Beekly D., Below J.E., Benchek P., Benitez B.A., Bennett D., Bertelson J., Margaret F.E., Bird T.D., Blacker D., Boeve B.F., Bowen J.D., Boxer A., Brewer J., Burke J.R., Burns J.M., Bush W.S., Buxbaum J.D., Cairns N.J., Cao C., Carlson C.S., Carlsson C.M., Carney R.M., Carrasquillo M.M., Chasse S., Chesselet M.-F., Chesi A., Chin N.A., Chui H.C., Chung J., Craft S., Crane P.K., Cribbs D.H., Crocco E.A., Cruchaga C., Cullum M., Darby E., Davis B., De Jager P.L., DeCarli C., DeToledo J., Dick M., Dickson D.W., Dombroski B.A., Doody R.S., Duara R., Ertekin-Taner N., Evans D.A., Fairchild T.J., Fallon K.B., Farlow M.R., Farrell J.J., Fernandez-Hernandez V., Ferris S., Frosch M.P., Fulton-Howard B., Galasko D.R., Gamboa A., Gearing M., Geschwind D.H., Ghetti B., Gilbert J.R., Grabowski T.J., Graff-Radford N.R., Grant S.F.A., Green R.C., Growdon J.H., Haines J.L., Hakonarson H., Hall J., Hamilton R.L., Harari O., Harrell L.E., Haut J., Head E., Henderson V.W., Hernandez M., Hohman T., Honig L.S., Huebinger R.M., Huentelman M.J., Hulette C.M., Hyman B.T., Hynan L.S., Ibanez L., Jarvik G.P., Jayadev S., Jin L.-W., Johnson K., Johnson L., Kamboh M.I., Karydas A.M., Katz M.J., Kaye J.A., Keene C.D., Khaleeq A., Kim R., Knebl J., Kowall N.W., Kramer J.H., Kuksa P.P., LaFerla F.M., Lah J.J., Larson E.B., Lee C.-Y., Lee E.B., Lerner A., Leung Y.Y., Leverenz J.B., Levey A.I., Li M., Lieberman A.P., Lipton R.B., Logue M., Lyketsos C.G., Malamon J., Mains D., Marson D.C., Martiniuk F., Mash D.C., Masliah E., Massman P., Masurkar A., McCormick W.C., McCurry S.M., McDavid A.N., McDonough S., McKee A.C., Mesulam M., Mez J., Miller B.L., Miller C.A., Miller J.W., Montine T.J., Monuki E.S., Morris J.C., Myers A.J., Nguyen T., O’Bryant S., Olichney J.M., Ory M., Palmer R., Parisi J.E., Paulson H.L., Pavlik V., Paydarfar D., Perez V., Peskind E., Petersen R.C., Phillips-Cremins J.E., Pierce A., Polk M., Poon W.W., Potter H., Qu L., Quiceno M., Quinn J.F., Raj A., Raskind M., Reiman E.M., Reisberg B., Reisch J.S., Ringman J.M., Roberson E.D., Rodriguear M., Rogaeva E., Rosen H.J., Rosenberg R.N., Royall D.R., Sager M.A., Sano M., Saykin A.J., Schneider J.A., Schneider L.S., Seeley W.W., Slifer S.H., Small S., Smith A.G., Smith J.P., Song Y.E., Sonnen J.A., Spina S., George-Hyslop P.S., Stern R.A., Stevens A.B., Strittmatter S.M., Sultzer D., Swerdlow R.H., Tanzi R.E., Tilson J.L., Trojanowski J.Q., Troncoso J.C., Tsuang D.W., Valladares O., Van Deerlin V.M., van Eldik L.J., Vassar R., Vinters H.V., Vonsattel J.-P., Weintraub S., Welsh-Bohmer K.A., Whitehead P.L., Wijsman E.M., Wilhelmsen K.C., Williams B., Williamson J., Wilms H., Wingo T.S., Wisniewski T., Woltjer R.L., Woon M., Wright C.B., Wu C.-K., Younkin S.G., Yu C.-E., Yu L., Zhang Y., Zhao Y., Zhu X., Adams H., Akinyemi R.O., Ali M., Aparicio H.J., Bahadori M., Becker J.T., Breteler M., Chasman D., Chauhan G., Comic H., Cox S., Cupples A.L., Davies G., DeCarli C.S., Duperron M.-G., Dupuis J., Evans T., Fan F., Fitzpatrick A., Fohner A.E., Ganguli M., Geerlings M., Glatt S.J., Gonzalez H.M., Goss M., Grabe H., Habes M., Heckbert S.R., Hofer E., Hong E., Hughes T., Kautz T.F., Knol M., Kremen W., Lacaze P., Lahti J., Grand Q.L., Litkowski E., Li S., Liu D., Liu X., Loitfelder M., Manning A., Maillard P., Marioni R., Mazoyer B., van Lent D.M., Mei H., Mishra A., Nyquist P., O’Connell J., Patel Y., Paus T., Pausova Z., Raikkonen-Talvitie K., Riaz M., Rich S., Rotter J., Romero J., Roshchupkin G., Saba Y., Sargurupremraj M., Schmidt H., Schmidt R., Shulman J.M., Smith J., Sekhar H., Rajula R., Shin J., Simino J., Sliz E., Teumer A., Thomas A., Tin A., Tucker-Drob E., Vojinovic D., Wang Y., Weinstein G., Williams D., Wittfeld K., Yanek L., Yang Y., Farrer L.A., Psaty B.M., Ghanbari M., Raj T., Sachdev P., Mather K., Jessen F., Ikram M.A., de Mendonça A., Hort J., Tsolaki M., Pericak-Vance M.A., Amouyel P., Williams J., Frikke-Schmidt R., Clarimon J., Deleuze J.-F., Rossi G., Seshadri S., Andreassen O.A., Ingelsson M., Hiltunen M., Sleegers K., Schellenberg G.D., van Duijn C.M., Sims R., van der Flier W.M., Ruiz A., Ramirez A., Lambert J.-C., EADB, GR@ACE, DEGESCO, EADI, GERAD, Demgene, FinnGen, ADGC, CHARGE (2022)
      Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a ...

    • Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: Large-scale collaborative study 

      Evangelou, E.; Maraganore, D. M.; Annesi, G.; Brighina, L.; Brice, A.; Elbaz, A.; Ferrarese, C.; Hadjigeorgiou, G. M.; Krueger, R.; Lambert, J. C.; Lesage, S.; Markopoulou, K.; Mellick, G. D.; Meeus, B.; Pedersen, N. L.; Quattrone, A.; Van Broeckhoven, C.; Sharma, M.; Silburn, P. A.; Tan, E. K.; Wirdefeldt, K.; Ioannidis, J. P. A. (2010)
      Early genome-wide association (GWA) studies on Parkinson's disease (PD) have not been able to yield conclusive, replicable signals of association, perhaps due to limited sample size. We aimed to investigate whether association ...

    • Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology 

      Bjornsdottir G., Stefansdottir L., Thorleifsson G., Sulem P., Norland K., Ferkingstad E., Oddsson A., Zink F., Lund S.H., Nawaz M.S., Bragi Walters G., Skuladottir A.T., Gudjonsson S.A., Einarsson G., Halldorsson G.H., Bjarnadottir V., Sveinbjornsson G., Helgadottir A., Styrkarsdottir U., Gudmundsson L.J., Pedersen O.B., Hansen T.F., Werge T., Banasik K., Troelsen A., Skou S.T., Thørner L.W., Erikstrup C., Nielsen K.R., Mikkelsen S., Andersen S., Brunak S., Burgdorf K., Hjalgrim H., Jemec G., Jennum P., Johansson P.I., Nielsen K.R., Nyegaard M., Bruun M.T., Pedersen O.B., Dinh K.M., Sørensen E., Ostrowski S., Johansson P.I., Gudbjartsson D., Stefánsson H., Þorsteinsdóttir U., Larsen M.A.H., Didriksen M., Sækmose S., Zeggini E., Hatzikotoulas K., Southam L., Gilly A., Barysenka A., van Meurs J.B.J., Boer C.G., Uitterlinden A.G., Styrkársdóttir U., Stefánsdóttir L., Jonsson H., Ingvarsson T., Esko T., Mägi R., Teder-Laving M., Ikegawa S., Terao C., Takuwa H., Meulenbelt I., Coutinho de Almeida R., Kloppenburg M., Tuerlings M., Slagboom P.E., Nelissen R.R.G.H.H., Valdes A.M., Mangino M., Tsezou A., Zengini E., Alexiadis G., Babis G.C., Cheah K.S.E., Wu T.T., Samartzis D., Cheung J.P.Y., Sham P.C., Kraft P., Kang J.H., Hveem K., Zwart J.-A., Luetge A., Skogholt A.H., Johnsen M.B., Thomas L.F., Winsvold B., Gabrielsen M.E., Lee M.T.M., Zhang Y., Lietman S.A., Shivakumar M., Smith G.D., Tobias J.H., Hartley A., Gaunt T.R., Zheng J., Wilkinson J.M., Steinberg J., Morris A.P., Jonsdottir I., Bjornsson A., Olafsson I.H., Ulfarsson E., Blondal J., Vikingsson A., Brunak S., Ostrowski S.R., Ullum H., Thorsteinsdottir U., Stefansson H., Gudbjartsson D.F., Thorgeirsson T.E., Stefansson K., DBDS Genetic Consortium, GO Consortium (2022)
      Back pain is a common and debilitating disorder with largely unknown underlying biology. Here we report a genome-wide association study of back pain using diagnoses assigned in clinical practice; dorsalgia (119,100 cases, ...

    • Replicating a GWAS: two novel candidate markers for oligospermia in Greek population 

      Markantoni M., Sarafidou T., Kyrgiafini M.-A., Chatziparasidou A., Christoforidis N., Dafopoulos K., Mamuris Z. (2021)
      Genome-wide association studies have paved the way for the discovery of new markers regarding many diseases, including male infertility. A previous study on Caucasians highlighted 172 polymorphisms for their putative ...

    • Replication study of GWAS risk loci in Greek multiple sclerosis patients 

      Hadjigeorgiou G.M., Kountra P.-M., Koutsis G., Tsimourtou V., Siokas V., Dardioti M., Rikos D., Marogianni C., Aloizou A.-M., Karadima G., Ralli S., Grigoriadis N., Bogdanos D., Panas M., Dardiotis E. (2019)
      Objectives: To validate in an ethnically homogeneous Greek multiple sclerosis (MS) cohort, genetic risk factors for the disease, identified through a number of previous multi-ethnic genome-wide association studies (GWAS). ...

    • Seven new loci associated with age-related macular degeneration 

      Fritsche, L. G.; Chen, W.; Schu, M.; Yaspan, B. L.; Yu, Y.; Thorleifsson, G.; Zack, D. J.; Arakawa, S.; Cipriani, V.; Ripke, S.; Igo, R. P.; Buitendijk, G. H. S.; Sim, X.; Weeks, D. E.; Guymer, R. H.; Merriam, J. E.; Francis, P. J.; Hannum, G.; Agarwal, A.; Armbrecht, A. M.; Audo, I.; Aung, T.; Barile, G. R.; Benchaboune, M.; Bird, A. C.; Bishop, P. N.; Branham, K. E.; Brooks, M.; Brucker, A. J.; Cade, W. H.; Cain, M. S.; Campochiaro, P. A.; Chan, C. C.; Cheng, C. Y.; Chew, E. Y.; Chin, K. A.; Chowers, I.; Clayton, D. G.; Cojocaru, R.; Conley, Y. P.; Cornes, B. K.; Daly, M. J.; Dhillon, B.; Edwards, A. O.; Evangelou, E.; Fagerness, J.; Ferreyra, H. A.; Friedman, J. S.; Geirsdottir, A.; George, R. J.; Gieger, C.; Gupta, N.; Hagstrom, S. A.; Harding, S. P.; Haritoglou, C.; Heckenlively, J. R.; Holz, F. G.; Hughes, G.; Ioannidis, J. P. A.; Ishibashi, T.; Joseph, P.; Jun, G.; Kamatani, Y.; Katsanis, N.; N Keilhauer, C.; Khan, J. C.; Kim, I. K.; Kiyohara, Y.; Klein, B. E. K.; Klein, R.; Kovach, J. L.; Kozak, I.; Lee, C. J.; Lee, K. E.; Lichtner, P.; Lotery, A. J.; Meitinger, T.; Mitchell, P.; Mohand-Saïd, S.; Moore, A. T.; Morgan, D. J.; Morrison, M. A.; Myers, C. E.; Naj, A. C.; Nakamura, Y.; Okada, Y.; Orlin, A.; Ortube, M. C.; Othman, M. I.; Pappas, C.; Park, K. H.; Pauer, G. J. T.; Peachey, N. S.; Poch, O.; Priya, R. R.; Reynolds, R.; Richardson, A. J.; Ripp, R.; Rudolph, G.; Ryu, E.; Sahel, J. A.; Schaumberg, D. A.; Scholl, H. P. N.; Schwartz, S. G.; Scott, W. K.; Shahid, H.; Sigurdsson, H.; Silvestri, G.; Sivakumaran, T. A.; Smith, R. T.; Sobrin, L.; Souied, E. H.; Stambolian, D. E.; Stefansson, H.; Sturgill-Short, G. M.; Takahashi, A.; Tosakulwong, N.; Truitt, B. J.; Tsironi, E. E.; Uitterlinden, A. G.; Van Duijn, C. M.; Vijaya, L.; Vingerling, J. R.; Vithana, E. N.; Webster, A. R.; Wichmann, H. E.; Winkler, T. W.; Wong, T. Y.; Wright, A. F.; Zelenika, D.; Zhang, M.; Zhao, L.; Zhang, K.; Klein, M. L.; Hageman, G. S.; Lathrop, G. M.; Stefansson, K.; Allikmets, R.; Baird, P. N.; Gorin, M. B.; Wang, J. J.; Klaver, C. C. W.; Seddon, J. M.; Pericak-Vance, M. A.; Iyengar, S. K.; Yates, J. R. W.; Swaroop, A.; Weber, B. H. F.; Kubo, M.; Deangelis, M. M.; Léveillard, T.; Thorsteinsdottir, U.; Haines, J. L.; Farrer, L. A.; Heid, I. M.; Abecasis, G. R. (2013)
      Age-related macular degeneration (AMD) is a common cause of blindness in older individuals. To accelerate the understanding of AMD biology and help design new therapies, we executed a collaborative genome-wide association ...

    • Sleep polygenic risk score is associated with cognitive changes over time 

      Tsapanou A., Mourtzi N., Charisis S., Hatzimanolis A., Ntanasi E., Kosmidis M.H., Yannakoulia M., Hadjigeorgiou G., Dardiotis E., Sakka P., Stern Y., Scarmeas N. (2022)
      Sleep problems have been associated with cognition, both cross-sectionally and longitudinally. Specific genes have been also associated with both sleep regulation and cognition. In a large group of older non-demented adults, ...

    • A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration 

      Strunz T., Lauwen S., Kiel C., Fritsche L.G., Igl W., Bailey J.N.C., Grassmann F., Sengupta S., Bragg-Gresham J.L., Burdon K.P., Hebbring S.J., Wen C., Gorski M., Kim I.K., Cho D., Zack D., Souied E., Scholl H.P.N., Bala E., Lee K.E., Hunter D.J., Sardell R.J., Mitchell P., Merriam J.E., Cipriani V., Hoffman J.D., Schick T., Lechanteur Y.T.E., Guymer R.H., Johnson M.P., Jiang Y., Stanton C.M., Buitendijk G.H.S., Zhan X., Kwong A.M., Boleda A., Brooks M., Gieser L., Ratnapriya R., Branham K.E., Foerster J.R., Heckenlively J.R., Othman M.I., Vote B.J., Liang H.H., Souzeau E., McAllister I.L., Isaacs T., Hall J., Lake S., Mackey D.A., Constable I.J., Craig J.E., Kitchner T.E., Yang Z., Su Z., Luo H., Chen D., Ouyang H., Flagg K., Lin D., Mao G., Ferreyra H., Stark K., Strachwitz C.N., Wolf A., Brandl C., Rudolph G., Olden M., Morrison M.A., Morgan D.J., Schu M., Ahn J., Silvestri G., Tsironi E.E., Park K.H., Farrer L.A., Orlin A., Brucker A., Li M., Curcio C., Mohand-Saïd S., Sahel J.-A., Audo I., Benchaboune M., Cree A.J., Rennie C.A., Goverdhan S.V., Grunin M., Hagbi-Levi S., Campochiaro P., Katsanis N., Holz F.G., Blond F., Blanché H., Deleuze J.-F., Igo R.P., Jr., Truitt B., Peachey N.S., Meuer S.M., Myers C.E., Moore E.L., Klein R., Hauser M.A., Postel E.A., Courtenay M.D., Schwartz S.G., Kovach J.L., Scott W.K., Liew G., Tfan A.G., Gopinath B., Merriam J.C., Smith R.T., Khan J.C., Shahid H., Moore A.T., McGrath J.A., Laux R., Brantley M.A., Jr., Agarwal A., Ersoy L., Caramoy A., Langmann T., Saksens N.T.M., Jong E.K., Hoyng C.B., Cain M.S., Richardson A.J., Martin T.M., Blangero J., Weeks D.E., Dhillon B., Duijn C.M., Doheny K.F., Romm J., Klaver C.C.W., Hayward C., Gorin M.B., Klein M.L., Baird P.N., Hollander A.I., Fauser S., Yates J.R.W., Allikmets R., Wang J.J., Schaumberg D.A., Klein B.E.K., Hagstrom S.A., Chowers I., Lotery A.J., Léveillard T., Zhang K., Brilliant M.H., Hewitt A.W., Swaroop A., Chew E.Y., Pericak-Vance M.A., DeAngelis M., Stambolian D., Haines J.L., Iyengar S.K., Weber B.H.F., Abecasis G.R., Heid I.M., Hollander A., Weber B.H.F., International AMD Genomics Consortium (IAMDGC) (2020)
      Genome-wide association studies (GWAS) for late stage age-related macular degeneration (AMD) have identified 52 independent genetic variants with genome-wide significance at 34 genomic loci. Typically, such an approach ...

    • Using multivariable Mendelian randomization to estimate the causal effect of bone mineral density on osteoarthritis risk, independently of body mass index 

      Hartley A., Sanderson E., Granell R., Paternoster L., Zheng J., Smith G.D., Southam L., Hatzikotoulas K., Boer C.G., Van Meurs J., Zeggini E., Gregson C.L., Tobias J.H., Stefánsdóttir L., Zhang Y., De Almeida R.C., Wu T.T., Teder-Laving M., Skogholt A.-H., Terao C., Zengini E., Alexiadis G., Barysenka A., Bjornsdottir G., Gabrielsen M.E., Gilly A., Ingvarsson T., Johnsen M.B., Jonsson H., Kloppenburg M.G., Luetge A., Mägi R., Mangino M., Nelissen R.R.G.H.H., Shivakumar M., Steinberg J., Takuwa H., Thomas L., Tuerlings M., Babis G., Cheung J.P.Y., Samartzis D., Lietman S.A., Slagboom P.E., Stefansson K., Uitterlinden A.G., Winsvold B., Zwart J.-A., Sham P.C., Thorleifsson G., Gaunt T.R., Morris A.P., Valdes A.M., Tsezou A., Cheah K.S.E., Ikegawa S., Hveem K., Esko T., Wilkinson J.M., Meulenbelt I., Michael Lee M.T., Styrkársdóttir U. (2022)
      Objectives: Observational analyses suggest that high bone mineral density (BMD) is a risk factor for osteoarthritis (OA); it is unclear whether this represents a causal effect or shared aetiology and whether these relationships ...

    • Variants of the elastin (ELN) gene and susceptibility to intracranial aneurysm: a synthesis of genetic association studies using a genetic model-free approach 

      Paterakis K., Koutsias S., Doxani C., Xanthopoulou P., Kokkali C., Mpoulimari I., Tziastoudi M., Karampelas I., Dardiotis E., Hadjigeorgiou G., Brotis A.G., Zintzaras E. (2017)
      Background: The presence of an intracranial aneurysm (IA) is thought to have a genetic origin. The genetic association studies (GAS) that investigated the association between IA and elastin gene (ELN) variants have produced ...