Now showing items 21-40 of 46

    • Intergenic snps in obstructive sleep apnea syndrome: Revealing metabolic, oxidative stress and immune-related pathways 

      Raptis D.G., Vavougios G.D., Siachpazidou D.I., Pastaka C., Xiromerisiou G., Gourgoulianis K.I., Malli F. (2021)
      There is strong evidence supporting the contribution of genetic factors to obstructive sleep apnea syndrome (OSAHS) susceptibility. In the current study we analyzed both in a clinical cohort and in silico, four single ...
    • 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 ...
    • Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study 

      Elbaz, A.; Nelson, L. M.; Payami, H.; Ioannidis, J. P.; Fiske, B. K.; Annesi, G.; Carmine Belin, A.; Factor, S. A.; Ferrarese, C.; Hadjigeorgiou, G. M.; Higgins, D. S.; Kawakami, H.; Krüger, R.; Marder, K. S.; Mayeux, R. P.; Mellick, G. D.; Nutt, J. G.; Ritz, B.; Samii, A.; Tanner, C. M.; Van Broeckhoven, C.; Van Den Eeden, S. K.; Wirdefeldt, K.; Zabetian, C. P.; Dehem, M.; Montimurro, J. S.; Southwick, A.; Myers, R. M.; Trikalinos, T. A. (2006)
      Background: A genome-wide association study identified 13 single-nucleotide polymorphisms (SNPs) significantly associated with Parkinson's disease. Small-scale replication studies were largely non-confirmatory, but a ...
    • 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 ...
    • 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 ...
    • Male infertility and the impact of lifestyle in the Greek population: A case–control study 

      Markantoni M., Sarafidou T., Chatziparasidou A., Christoforidis N., Mamuris Z. (2022)
      Background and Aims: Collection of epidemiological data has become a crucial step in every fertility evaluation, especially regarding idiopathic male infertility. Information on data such as tobacco smoking, alcohol intake, ...
    • Maternal atopy and childhood bronchial asthma [2] 

      Gourgoulianis, K. I.; Papagianni, M.; Molyvdas, P. A. (1998)
    • Meta-analysis and bioinformatics detection of susceptibility genes in diabetic nephropathy 

      Tziastoudi M., Cholevas C., Theoharides T.C., Stefanidis I. (2022)
      The latest meta-analysis of genome-wide linkage studies (GWLS) identified nine cytogenetic locations suggestive of a linkage with diabetic nephropathy (DN) due to type 1 diabetes mellitus (T1DM) and seven locations due to ...
    • 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 ...
    • Paraoxonase-1 genetic polymorphisms in organophosphate metabolism 

      Dardiotis E., Aloizou A.-M., Siokas V., Tsouris Z., Rikos D., Marogianni C., Aschner M., Kovatsi L., Bogdanos D.P., Tsatsakis A. (2019)
      Organophosphates (OPs) are a class of chemicals commonly used in agriculture as pesticides, that can often lead to severe toxicity in humans. Paraoxonase-1 (PON1) belongs to a family of A-esterases and hydrolyses several ...
    • Popular and unpopular infectious agents linked to primary biliary cirrhosis 

      Koutsoumpas, A. L.; Kriese, S.; Rigopoulou, E. I. (2012)
      Primary biliary cirrhosis (PBC) is a progressive cholestatic liver disease characterized by the autoimmune destruction of the biliary epithelial cells of the small and medium-size bile ducts. The disease affects middle ...
    • 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 of PTPRC as genetic biomarker of response to TNF inhibitors in patients with rheumatoid arthritis 

      Ferreiro-Iglesias A., Montes A., Perez-Pampin E., Cañete J.D., Raya E., Magro-Checa C., Vasilopoulos Y., Sarafidou T., Caliz R., Ferrer M.A., Joven B., Carreira P., Balsa A., Pascual-Salcedo D., Blanco F.J., Moreno-Ramos M.J., Fernández-Nebro A., Ordóñez M.C., Alegre-Sancho J.J., Narváez J., Navarro-Sarabia F., Moreira V., Valor L., García-Portales R., Marquez A., Martin J., Gómez-Reino J.J., Gonzalez A. (2016)
      Genetic biomarkers could be useful for orienting treatment of patients with rheumatoid arthritis (RA), but none has been convincingly validated yet. Putative biomarkers include 14 single nucleotide polymorphisms that have ...
    • 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). ...
    • Risk factor genes in patients with dystonia: A comprehensive review 

      Siokas V., Aloizou A.-M., Tsouris Z., Michalopoulou A., Mentis A.-F.A., Dardiotis E. (2019)
      Background: Dystonia is a movement disorder with high heterogeneity regarding phenotypic appearance and etiology that occurs in both sporadic and familial forms. The etiology of the disease remains unknown. However, there ...
    • SORL1 mutation in a Greek family with Parkinson's disease and dementia 

      Xiromerisiou G., Bourinaris T., Houlden H., Lewis P.A., Senkevich K., Hammer M., Federoff M., Khan A., Spanaki C., Hadjigeorgiou G.M., Bonstanjopoulou S., Fidani L., Ermolaev A., Gan-Or Z., Singleton A., Vandrovcova J., Hardy J. (2021)
      Whole exome sequencing and linkage analysis were performed in a three generational pedigree of Greek origin with a broad phenotypic spectrum spanning from Parkinson’s disease and Parkinson’s disease dementia to dementia ...
    • Susceptibility of β-thalassemia heterozygotes to COVID-19 

      Sotiriou S., Samara A.A., Vamvakopoulou D., Vamvakopoulos K.-O., Sidiropoulos A., Vamvakopoulos N., Janho M.B., Gourgoulianis K.I., Boutlas S. (2021)
      Background: β-Thalassemia is the most prevalent single gene blood disorder, while the assessment of its susceptibility to coronavirus disease 2019 (COVID-19) warrants it a pressing biomed-ical priority. Methods: We studied ...