Defining the role of common variation in the genomic and biological architecture of adult human height

Autor: Wood, Ar, Esko, T, Yang, J, Vedantam, S, Pers, Th, Gustafsson, S, Chu, Ay, Estrada, K, Luan, J, Kutalik, Z, Amin, N, Buchkovich, Ml, Croteau Chonka DC, Day, Fr, Duan, Y, Fall, T, Fehrmann, R, Ferreira, T, Jackson, Au, Karjalainen, J, Lo, Ks, Locke, Ae, Mägi, R, Mihailov, E, Porcu, E, Randall, Jc, Scherag, A, Vinkhuyzen, Aa, Westra, Hj, Winkler, Tw, Workalemahu, T, Zhao, Jh, Absher, D, Albrecht, E, Anderson, D, Baron, J, Beekman, M, Demirkan, A, Ehret, Gb, Feenstra, B, Feitosa, Mf, Fischer, K, Fraser, Rm, Goel, A, Gong, J, Justice, Ae, Kanoni, S, Kleber, Me, Kristiansson, K, Lim, U, Lotay, V, Lui, Jc, Mangino, M, Mateo Leach, I, Medina Gomez, C, Nalls, Ma, Nyholt, Dr, Palmer, Cd, Pasko, D, Pechlivanis, S, Prokopenko, I, Ried, Js, Ripke, S, Shungin, D, Stancáková, A, Strawbridge, Rj, Sung, Yj, Tanaka, T, Teumer, A, Trompet, S, van der Laan SW, van Setten, J, Van Vliet Ostaptchouk JV, Wang, Z, Yengo, L, Zhang, W, Afzal, U, Arnlöv, J, Arscott, Gm, Bandinelli, S, Barrett, A, Bellis, C, Bennett, Aj, Berne, C, Blüher, M, Bolton, Jl, Böttcher, Y, Boyd, Ha, Bruinenberg, M, Buckley, Bm, Buyske, S, Caspersen, Ih, Chines, Ps, Clarke, R, Claudi Boehm, S, Cooper, M, Daw, Ew, De Jong PA, Deelen, J, Delgado, G, Denny, Jc, Dhonukshe Rutten, R, Dimitriou, M, Doney, As, Dörr, M, Eklund, N, Eury, E, Folkersen, L, Garcia, Me, Geller, F, Giedraitis, V, Go, As, Grallert, H, Grammer, Tb, Gräßler, J, Grönberg, H, de Groot LC, Groves, Cj, Haessler, J, Hall, P, Haller, T, Hallmans, G, Hannemann, A, Hartman, Ca, Hassinen, M, Hayward, C, Heard Costa NL, Helmer, Q, Hemani, G, Henders, Ak, Hillege, Hl, Hlatky, Ma, Hoffmann, W, Hoffmann, P, Holmen, O, Houwing Duistermaat JJ, Illig, T, Isaacs, A, James, Al, Jeff, J, Johansen, B, Johansson, Å, Jolley, J, Juliusdottir, T, Junttila, J, Kho, An, Kinnunen, L, Klopp, N, Kocher, T, Kratzer, W, Lichtner, P, Lind, L, Lindström, J, Lobbens, S, Lorentzon, M, Lu, Y, Lyssenko, V, Magnusson, Pk, Mahajan, A, Maillard, M, Mcardle, Wl, Mckenzie, Ca, Mclachlan, S, Mclaren, Pj, Menni, C, Merger, S, Milani, L, Moayyeri, A, Monda, Kl, Morken, Ma, Müller, G, Müller Nurasyid, M, Musk, Aw, Narisu, N, Nauck, M, Nolte, Im, Nöthen, Mm, Oozageer, L, Pilz, S, Rayner, Nw, Renstrom, F, Robertson, Nr, Rose, Lm, Roussel, R, Sanna, S, Scharnagl, H, Scholtens, S, Schumacher, Fr, Schunkert, H, Scott, Ra, Sehmi, J, Seufferlein, T, Shi, J, Silventoinen, K, Smit, Jh, Smith, Av, Smolonska, J, Stanton, Av, Stirrups, K, Stott, Dj, Stringham, Hm, Sundström, J, Swertz, Ma, Syvänen, Ac, Tayo, Bo, Thorleifsson, G, Tyrer, Jp, van Dijk, S, van Schoor NM, van der Velde, N, van Heemst, D, van Oort FV, Vermeulen, Sh, Verweij, N, Vonk, Jm, Waite, Ll, Waldenberger, M, Wennauer, R, Wilkens, Lr, Willenborg, C, Wilsgaard, T, Wojczynski, Mk, Wong, A, Wright, Af, Zhang, Q, Arveiler, D, Bakker, Sj, Beilby, J, Bergman, Rn, Bergmann, S, Biffar, R, Blangero, J, Boomsma, Di, Bornstein, Sr, Bovet, P, Brambilla, P, Brown, Mj, Campbell, H, Caulfield, Mj, Chakravarti, A, Collins, R, Collins, Fs, Crawford, Dc, Cupples, La, Danesh, J, de Faire, U, den Ruijter HM, Erbel, R, Erdmann, J, Eriksson, Jg, Farrall, M, Ferrannini, Eleuterio, Ferrières, J, Ford, I, Forouhi, Ng, Forrester, T, Gansevoort, Rt, Gejman, Pv, Gieger, C, Golay, A, Gottesman, O, Gudnason, V, Gyllensten, U, Haas, Dw, Hall, As, Harris, Tb, Hattersley, At, Heath, Ac, Hengstenberg, C, Hicks, Aa, Hindorff, La, Hingorani, Ad, Hofman, A, Hovingh, Gk, Humphries, Se, Hunt, Sc, Hypponen, E, Jacobs, Kb, Jarvelin, Mr, Jousilahti, P, Jula, Am, Kaprio, J, Kastelein, Jj, Kayser, M, Kee, F, Keinanen Kiukaanniemi SM, Kiemeney, La, Kooner, Js, Kooperberg, C, Koskinen, S, Kovacs, P, Kraja, At, Kumari, M, Kuusisto, J, Lakka, Ta, Langenberg, C, Le Marchand, L, Lehtimäki, T, Lupoli, S, Madden, Pa, Männistö, S, Manunta, P, Marette, A, Matise, Tc, Mcknight, B, Meitinger, T, Moll, Fl, Montgomery, Gw, Morris, Ad, Morris, Ap, Murray, Jc, Nelis, M, Ohlsson, C, Oldehinkel, Aj, Ong, Kk, Ouwehand, Wh, Pasterkamp, G, Peters, A, Pramstaller, Pp, Price, Jf, Qi, L, Raitakari, Ot, Rankinen, T, Rao, Dc, Rice, Tk, Ritchie, M, Rudan, I, Salomaa, V, Samani, Nj, Saramies, J, Sarzynski, Ma, Schwarz, Pe, Sebert, S, Sever, P, Shuldiner, Ar, Sinisalo, J, Steinthorsdottir, V, Stolk, Rp, Tardif, Jc, Tönjes, A, Tremblay, A, Tremoli, E, Virtamo, J, Vohl, Mc, Electronic Medical Records, Genomics, Consortium, Migen, Consortium, Pagege, Consortium, LifeLines Cohort Study, Amouyel, P, Asselbergs, Fw, Assimes, Tl, Bochud, M, Boehm, Bo, Boerwinkle, E, Bottinger, Ep, Bouchard, C, Cauchi, S, Chambers, Jc, Chanock, Sj, Cooper, Rs, de Bakker PI, Dedoussis, G, Ferrucci, L, Franks, Pw, Froguel, P, Groop, Lc, Haiman, Ca, Hamsten, A, Hayes, Mg, Hui, J, Hunter, Dj, Hveem, K, Jukema, Jw, Kaplan, Rc, Kivimaki, M, Kuh, D, Laakso, M, Liu, Y, Martin, Ng, März, W, Melbye, M, Moebus, S, Munroe, Pb, Njølstad, I, Oostra, Ba, Palmer, Cn, Pedersen, Nl, Perola, M, Pérusse, L, Peters, U, Powell, Je, Power, C, Quertermous, T, Rauramaa, R, Reinmaa, E, Ridker, Pm, Rivadeneira, F, Rotter, Ji, Saaristo, Te, Saleheen, D, Schlessinger, D, Slagboom, Pe, Snieder, H, Spector, Td, Strauch, K, Stumvoll, M, Tuomilehto, J, Uusitupa, M, van der Harst, P, Völzke, H, Walker, M, Wareham, Nj, Watkins, H, Wichmann, He, Wilson, Jf, Zanen, P, Deloukas, P, Heid, Im, Lindgren, Cm, Mohlke, Kl, Speliotes, Ek, Thorsteinsdottir, U, Barroso, I, Fox, Cs, North, Ke, Strachan, Dp, Beckmann, Js, Berndt, Si, Boehnke, M, Borecki, Ib, Mccarthy, Mi, Metspalu, A, Stefansson, K, Uitterlinden, Ag, van Duijn CM, Franke, L, Willer, Cj, Price, Al, Lettre, G, Loos, Rj, Weedon, Mn, Ingelsson, E, O'Connell, Jr, Abecasis, Gr, Chasman, Di, Goddard, Me, Visscher, Pm, Hirschhorn, Jn, Frayling, T. M.

Publikováno v: Nature genetics
Nature Genetics
Nat Genet
Nature Genetics, 46(11), 1173-86. Nature Publishing Group
Nature Genetics, 46(11), 1173-1186. Nature Publishing Group
Wood, A R, Esko, T, Yang, J, Vedantam, S, Pers, T H, Gustafsson, S, Chu, A Y, Estrada, K, Luan, J, Kutalik, Z, Amin, N, Buchkovich, M L, Croteau-Chonka, D C, Day, F R, Duan, Y, Fall, T, Fehrmann, R S, Ferreira, T, Jackson, A U, Karjalainen, J, Lo, K S, Locke, A E, Mägi, R, Mihailov, E, Porcu, E, Randall, J C, Scherag, A, Vinkhuyzen, A A E, Westra, H J, Winkler, T W, Workalemahu, T, Zhao, J H, Absher, D, Albrecht, E, Anderson, D, Baron, J, Beekman, M, Demirkan, A, Ehret, G B, Feenstra, B, Feitosa, M F, Fischer, K, Fraser, R M, Goel, A, Gong, J, Justice, A E, Kanoni, S, Kleber, M E, Kristiansson, K, Lim, U, Helmer, Q, Boomsma, D I, Saleheen, D, Schlessinger, D, Slagboom, P E, Snieder, H, Spector, T D, Strauch, K, Stumvoll, M, Tuomilehto, J, Uusitupa, M, van der Harst, P, Völzke, H, Walker, M, Wareham, N J, Watkins, H, Wichmann, H E, Wilson, J F, Zanen, P, Deloukas, P, Heid, I M, Lindgren, C M, Mohlke, K L, Speliotes, E K, Thorsteinsdottir, U, Barroso, I, Fox, C S, North, K E, Strachan, D P, Beckmann, J S, Berndt, S I, Boehnke, M, Borecki, I B, McCarthy, M I, Metspalu, A, Smit, J H, Pilz, S, van Schoor, N M, Stefansson, K, Uitterlinden, A G, van Duijn, C M, Franke, L, Willer, C J, Price, A L, Lettre, G, Loos, R J F, Weedon, M N, Ingelsson, E, O'Connell, J R, Abecasis, G R, Chasman, D I, Goddard, M E, Visscher, P M, Hirschhorn, J N & Frayling, T M 2014, ' Defining the role of common variation in the genomic and biological architecture of adult human height ', Nature Genetics, vol. 46, no. 11, pp. 1173-1186 . https://doi.org/10.1038/ng.3097
Nature Genetics, 46, 1173-1186
Nature Genetics, Vol. 46, No 11 (2014) pp. 1173-1186
Nature Genetics 46 (2014)
Nature genetics, 46(11), 1173-1186. Nature Publishing Group
Nature Genetics, 46, 1173-86
Nature Genetics, 46, 11, pp. 1173-86
Nature Genetics, vol. 46, no. 11, pp. 1173-1186
Nature Genetics, 46(11), 1173-1186

Item does not contain fulltext Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a687c9dc50d61eda07e98ad4df82968
https://doi.org/10.1038/ng.3097

A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility.

Autor: Sorosina M; Laboratory of Human Genetics of Neurological Disorders, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132, Milan, Italy., Barizzone N; Department of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Eastern Piedmont, Avogadro University, 28100, Novara, Italy., Clarelli F; Laboratory of Human Genetics of Neurological Disorders, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132, Milan, Italy., Anand S; Department of Informatics, Systems and Communications (DISCo), University of Milano-Bicocca, Milan, Italy., Lupoli S; Department of Health Sciences, University of Milan, 20139, Milan, Italy., Salvi E; Department of Health Sciences, University of Milan, 20139, Milan, Italy.; Neuroalgology Unit, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', 20133, Milan, Italy., Mangano E; National Research Council of Italy, Institute for Biomedical Technologies, Segrate, 20090, Milan, Italy., Bordoni R; National Research Council of Italy, Institute for Biomedical Technologies, Segrate, 20090, Milan, Italy., Roostaei T; Center for Translational and Computational Neuroimmunology, Department of Neurology and the Taub Institute for Research On Alzheimer's Disease and the Aging Brain, Columbia University Irving Medical Center, New York, NY, 10032, USA., Mascia E; Laboratory of Human Genetics of Neurological Disorders, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132, Milan, Italy., Zuccalà M; Department of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Eastern Piedmont, Avogadro University, 28100, Novara, Italy., Vecchio D; MS Centre, SCDU Neurology, AOU Maggiore Della Carità, Department of Translational Medicine, Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Eastern Piedmont Avogadro, 28100, Novara, Italy., Cavalla P; MS Center, Department of Neuroscience and Mental Health, City of Health and Science University Hospital of Torino, 10126, Turin, Italy., Santoro S; Laboratory of Human Genetics of Neurological Disorders, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132, Milan, Italy., Ferrè L; Laboratory of Human Genetics of Neurological Disorders, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132, Milan, Italy.; Neurology Unit, IRCCS San Raffaele Scientific Institute, 20132, Milan, Italy., Zollo A; Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, University of Milan, 20122, Milan, Italy., Barlassina C; Department of Health Sciences, University of Milan, 20139, Milan, Italy., Cusi D; National Research Council of Italy, Institute for Biomedical Technologies, Segrate, 20090, Milan, Italy.; Bio4Dreams, Business Nursery for Life Sciences, Piazzale Principessa Clotilde 4/A, 20121, Milan, Italy., Martinelli V; Neurology Unit, IRCCS San Raffaele Scientific Institute, 20132, Milan, Italy., Comi G; Neurology Unit, IRCCS San Raffaele Scientific Institute, 20132, Milan, Italy., Leone M; SC Neurologia, Dipartimento Di Scienze Mediche, IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Italy., Filippi M; Neurology Unit, IRCCS San Raffaele Scientific Institute, 20132, Milan, Italy.; Vita-Salute San Raffaele University, 20132, Milan, Italy.; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132, Milan, Italy.; Neurophysiology Unit, IRCCS San Raffaele Scientific Institute, IRCCS San Raffaele Scientific Institute, 20132, Milan, Italy., Patsopoulos NA; Systems Biology and Computer Science Program, Ann Romney Center for Neurological Diseases, Department of Neurology, Brigham and Women's Hospital, Boston, MA, 02115, USA.; Division of Genetics, Department of Medicine, Harvard Medical School, Brigham and Women's Hospital, Boston, MA, 02115, USA.; Harvard Medical School, Boston, MA, 02115, USA.; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA., De Jager PL; Center for Translational and Computational Neuroimmunology, Department of Neurology and the Taub Institute for Research On Alzheimer's Disease and the Aging Brain, Columbia University Irving Medical Center, New York, NY, 10032, USA., De Bellis G; National Research Council of Italy, Institute for Biomedical Technologies, Segrate, 20090, Milan, Italy., Esposito F; Laboratory of Human Genetics of Neurological Disorders, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132, Milan, Italy.; Neurology Unit, IRCCS San Raffaele Scientific Institute, 20132, Milan, Italy., D'Alfonso S; Department of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Eastern Piedmont, Avogadro University, 28100, Novara, Italy., Martinelli Boneschi F; Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, University of Milan, 20122, Milan, Italy. filippo.martinelli@unimi.it.; Neurology Unit and MS Centre, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122, Milan, Italy. filippo.martinelli@unimi.it.

Publikováno v: Journal of neurology [J Neurol] 2022 Aug; Vol. 269 (8), pp. 4510-4522. Date of Electronic Publication: 2022 May 12.

P.1.01 An association of the glial cell line-derived neurotrophic factor family receptor alpha-1 gene with schizophrenia

Autor: Alkelai, A., Kohn, Y., Lupoli, S., Olender, T., Sarner-Kanyas, K., Ben-Asher, E., Lancet, D., Macciardi, F., Lerer, B.

Publikováno v: In European Neuropsychopharmacology 2009 19 Supplement 1:S3-S4

Ruolo dei polimorfismi genetici di Klotho nella sodio-sensibilità: link tra sodio ed invecchiamento

Autor: LANZANI C, CITTERIO L, DELLI CARPINI S, BRIONI E, SIMONINI M, LUPOLI S, GATTI G, ZAGATO L, BARLASSINA C, MANUNTA , PAOLO

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10495::d279a93630a2b4c4188fb9f8ba387519

Fine mapping of AHI1 on 6q23 as a susceptibility gene to schizophrenia

Autor: Torri F., Akelai A., Lupoli S., Sironi M., Fumagalli M., Cagliani R., Dal Fiume C., Salvi E., Cozzi P., Orro A., Beckmann J., Lerer B., Macciardi F.

Publikováno v: Illumina User Meeting 2009, 2009
info:cnr-pdr/source/autori:Torri F., Akelai A., Lupoli S., Sironi M., Fumagalli M., Cagliani R.,Dal Fiume C., Salvi E., Cozzi P., Orro A., Beckmann J., Lerer B., Macciardi F./congresso_nome:Illumina User Meeting 2009/congresso_luogo:/congresso_data:2009/anno:2009/pagina_da:/pagina_a:/intervallo_pagine
European Society of Human Genetics, 2009
info:cnr-pdr/source/autori:Torri F., Akelai A., Lupoli S., Sironi M., Fumagalli M., Cagliani R.,Dal Fiume C., Salvi E., Cozzi P., Orro A., Beckmann J., Lerer B., Macciardi F./congresso_nome:European Society of Human Genetics/congresso_luogo:/congresso_data:2009/anno:2009/pagina_da:/pagina_a:/intervallo_pagine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0069077c1d2b86ecbbdd1ceb554cece7
https://publications.cnr.it/doc/96865