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201 results on '"Bettecken, T"'

3. TMEM132D, a new candidate for anxiety phenotypes: evidence from human and mouse studies

Author

Erhardt, A, Czibere, L, Roeske, D, Lucae, S, Unschuld, P G, Ripke, S, Specht, M, Kohli, M A, Kloiber, S, Ising, M, Heck, A, Pfister, H, Zimmermann, P, Lieb, R, Pütz, B, Uhr, M, Weber, P, Deussing, J M, Gonik, M, Bunck, M, Keßler, M S, Frank, E, Hohoff, C, Domschke, K, Krakowitzky, P, Maier, W, Bandelow, B, Jacob, C, Deckert, J, Schreiber, S, Strohmaier, J, Nöthen, M, Cichon, S, Rietschel, M, Bettecken, T, Keck, M E, Landgraf, R, Müller-Myhsok, B, Holsboer, F, and Binder, E B

Published
2011
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16. Genetik der Muskeldystrophien

Author

Grimm, T., Apacik, C., Bettecken, T., Heindrichs, K., Kostrzewa, E., Meng, G., Müller, B., Kind, E., Wuschek, U., Müller, C. R., Fischer, Peter-Alexander, editor, Baas, Horst, editor, and Enzensberger, Wolfgang, editor

Published
1989
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18. The association between lower educational attainment and depression owing to shared genetic effects? Results in ∼25 000 subjects: Results in ~25,000 subjects

Author

Peyrot, W. J., Lee, S. H., Milaneschi, Y., Abdellaoui, A., Byrne, E. M., Esko, T., de Geus, E. J. C., Hemani, G., Hottenga, J. J., Kloiber, S., Levinson, D. F., Lucae, S., Martin, N. G., Medland, S. E., Metspalu, A., Milani, L., Noethen, M. M., Potash, J. B., Rietschel, M., Rietveld, C. A., Ripke, S., Shi, J., Willemsen, G., Zhu, Z., Boomsma, D. I., Wray, N. R., Penninx, B. W. J. H., Lewis, C. M., Hamilton, S. P., Weissman, M. M., Breen, G., Blackwood, D. H., Cichon, S., Heath, A. C., Holsboer, F., Madden, Pamela A., McGuffin, P., Muglia, P., Pergadia, M. L., Lin, D., Müller-Myhsok, B., Steinberg, S., Grabe, H. J., Lichtenstein, P., Magnusson, P., Perlis, R. H., Preisig, M., Smoller, J. W., Stefansson, K., Uher, R., Kutalik, Z., Tansey, K. E., Teumer, A., Viktorin, A., Barnes, M. R., Bettecken, T., Binder, E. B., Breuer, R., Castro, V. M., Churchill, S. E., Coryell, W. H., Craddock, N., Craig, I. W., Czamara, D., Degenhardt, F., Farmer, A. E., Fava, M., Frank, J., Gainer, V. S., Gallagher, P. J., Gordon, S. D., Goryachev, S., Gross, M., Guipponi, M., Henders, A. K., Herms, S., Hickie, I. B., Hoefels, S., Hoogendijk, W., Iosifescu, D. V., Ising, M., Jones, I., Jones, L., Jung-Ying, T., Knowles, J. A., Kohane, I. S., Kohli, M. A., Korszun, A., Landen, M., Lawson, W. B., Lewis, G., Macintyre, D., Maier, W., Mattheisen, M., McGrath, P. J., McIntosh, A., McLean, A., Middeldorp, C. M., Middleton, L., Montgomery, G. M., Murphy, S. N., Nauck, M., Nolen, W. A., Nyholt, Dale R., O'Donovan, M., Oskarsson, H., Pedersen, N., Scheftner, W. A., Schulz, A., Schulze, T. G., Shyn, S. I., Sigurdsson, E., Slager, S. L., Smit, J. H., Stefansson, H., Steffens, M., Thorgeirsson, T., Tozzi, F., Treutlein, J., Uhr, M., van den Oord, E. J., van Grootheest, G., Völzke, H., Weilburg, J. B., Zitman, F. G., Neale, B., Daly, M., Sullivan, P. F., Agrawal, Arpana, Albrecht, Eva, Z Alizadeh, Behrooz, Allik, J. ri, Amin, Najaf, Attia, John R., Bandinelli, Stefania, Barnard, John, Bastardot, Franois, e Baumeister, Sebastian, Beauchamp, Jonathan, Benjamin, Daniel J., Benke, Kelly S., Bennett, David A., Berger, Klaus, Bielak, Lawrence F., Bierut, Laura J., Boatman, Jeffrey A., Boyle, Patricia A., Bültmann, Ute, Campbell, Harry, Cesarini, David, Chabris, Christopher F., Cherkas, Lynn, Chung, Mina K., Conley, Dalton, Cucca, Francesco, Davey-Smith, George, Davies, Gail, de Andrade, Mariza, de Jager, Philip L., de Leeuw, Christiaan, de Neve, Jan-Emmanuel, Deary, Ian J., Dedoussis, George V., Deloukas, Panos, Derringer, Jaime, Dimitriou, Maria, Eiriksdottir, Gudny, Eklund, Niina, Elderson, Martin F., Eriksson, Johan G., Evans, Daniel S., Evans, David M., Faul, Jessica D., Fehrmann, Rudolf, Ferrucci, Luigi, Fischer, Krista, Franke, Lude, Garcia, Melissa E., Gieger, Christian, Gjessing, Hkon K., Groenen, Patrick J. F., Grönberg, Henrik, Gudnason, Vilmundur, Hägg, Sara, Hall, Per, Harris, Jennifer R., Harris, Juliette M., Harris, Tamara B., Hastie, Nicholas D., Hayward, Caroline, Hernandez, Dena G., Hoffmann, Wolgang, Hofman, Adriaan, Hofman, Albert, Holle, Rolf, Holliday, Elizabeth G., Holzapfel, Christina, Iacono, William G., Ibrahim-Verbaas, Carla A., Illig, Thomas, Ingelsson, Erik, Jacobsson, Bo, Järvelin, Marjo-Riitta, Jhun, Min A., Johannesson, Magnus, Joshi, Peter K., Jugessur, Astanand, Kaakinen, Marika, Kähönen, Mika, Kanoni, Stavroula, Kaprio, Jaakkko, Kardia, Sharon L. R., Karjalainen, Juha, Kirkpatrick, Robert M., Koellinger, Philipp D., Kolcic, Ivana, Kowgier, Matthew, Kristiansson, Kati, Krueger, Robert F., Kutalik, Z. ltan, Lahti, Jari, Laibson, David, Latvala, Antti, Launer, Lenore J., Lawlor, Debbie A., Lethimäki, Terho, Li, Jingmei, Lichtenstein, Paul, Lichtner, Peter K., Liewald, David C., Lin, Peng, Lind, Penelope A., Liu, Yongmei, Lohman, Kurt, Loitfelder, Marisa, Magnusson, Patrick K. E., Mäkinen, Tomi E., Vidal, Pedro Marques, Martin, Nicolas W., Masala, Marco, McGue, Matt, McMahon, George, Meirelles, Osorio, Meyer, Michelle N., Mielck, Andreas, Miller, Michael B., Montgomery, Grant W., Mukherjee, Sutapa, Myhre, Ronny, Nuotio, Marja-Liisa, J Oldmeadow, Christopher, Oostra, Ben A., Palmer, Lyle J., Palotie, Aarno, Perola, Markus, Petrovic, Katja E., Peyser, Patricia A., Polašek, Ozren, Posthuma, Danielle, Preisig, Martin, Quaye, Lydia, Räikkönen, Katri, Raitakari, Olli T., Realo, Anu, Reinmaa, Eva, Rice, John P., Ring, Susan M., Ripatti, Samuli, Rivadeneira, Fernando, Rizzi, Thais S., Rudan, Igor, Rustichini, Aldo, Salomaa, Veikko, Sarin, Antti-Pekka, Schlessinger, David, Schmidt, Helena, Schmidt, Reinhold, Scott, Rodney J., Shakhbazov, Konstantin, Smith, Albert V., Smith, Jennifer A., Snieder, Harold, St Pourcain, Beate, Starr, John M., Sul, Jae Hoon, Surakka, Ida, Svento, Rauli, Tanaka, Toshiko, Terracciano, Antonio, Teumer, Alexander, Thurik, A. Roy, Tiemeier, Henning, Timpson, Nicholas J., Uitterlinden, André G., van der Loos, Matthijs J. H. M., van Duijn, Cornelia M., van Rooij, Frank J. A., van Wagoner, David R., Vartiainen, Erkki, Viikari, Jorma, Visscher, Peter M., Vitart, Veronique, Vollenweider, Peter K., Völzke, Henry, Vonk, Judith M., Waeber, G. rard, Weir, David R., Wellmann, J. rgen, Westra, Harm-Jan, Wichmann, H. Erich, Widen, Elisabeth, Wilson, James F., Wright, Alan F., Yang, Jian, Yu, Lei, Zhao, Wei, and Academic Medical Center

Subjects
Adult, Male, Psychiatric Status Rating Scales, Likelihood Functions, Genotype, Estonia/epidemiology, Netherlands/epidemiology, Depressive Disorder, Major/epidemiology, Middle Aged, Polymorphism, Single Nucleotide/genetics, Cohort Studies, Odds Ratio, Educational Status, Humans, Regression Analysis, Female, Gene-Environment Interaction, Genetic Association Studies, Aged
Abstract

An association between lower educational attainment (EA) and an increased risk for depression has been confirmed in various western countries. This study examines whether pleiotropic genetic effects contribute to this association. Therefore, data were analyzed from a total of 9662 major depressive disorder (MDD) cases and 14 949 controls (with no lifetime MDD diagnosis) from the Psychiatric Genomics Consortium with additional Dutch and Estonian data. The association of EA and MDD was assessed with logistic regression in 15 138 individuals indicating a significantly negative association in our sample with an odds ratio for MDD 0.78 (0.75-0.82) per standard deviation increase in EA. With data of 884 105 autosomal common single-nucleotide polymorphisms (SNPs), three methods were applied to test for pleiotropy between MDD and EA: (i) genetic profile risk scores (GPRS) derived from training data for EA (independent meta-analysis on ∼120 000 subjects) and MDD (using a 10-fold leave-one-out procedure in the current sample), (ii) bivariate genomic-relationship-matrix restricted maximum likelihood (GREML) and (iii) SNP effect concordance analysis (SECA). With these methods, we found (i) that the EA-GPRS did not predict MDD status, and MDD-GPRS did not predict EA, (ii) a weak negative genetic correlation with bivariate GREML analyses, but this correlation was not consistently significant, (iii) no evidence for concordance of MDD and EA SNP effects with SECA analysis. To conclude, our study confirms an association of lower EA and MDD risk, but this association was not because of measurable pleiotropic genetic effects, which suggests that environmental factors could be involved, for example, socioeconomic status.

Published
2015

19. Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

Author

O’dushlaine, C, Rossin, L, Lee, PH, Duncan, L, Parikshak, NN, Newhouse, S, Ripke, S, Neale, BM, Purcell, SM, Posthuma, D, Nurnberger, JI, Lee, SH, Faraone, SV, Perlis, RH, Mowry, BJ, Thapar, A, Goddard, ME, Witte, JS, Absher, D, Agartz, I, Akil, H, Amin, F, Andreassen, OA, Anjorin, A, Anney, R, Anttila, V, Arking, DE, Asherson, P, Azevedo, MH, Backlund, L, Badner, JA, Bailey, AJ, Banaschewski, T, Barchas, JD, Barnes, MR, Barrett, TB, Bass, N, Battaglia, A, Bauer, M, Bayés, M, Bellivier, F, Bergen, SE, Berrettini, W, Betancur, C, Bettecken, T, Biederman, J, Binder, EB, Black, DW, Blackwood, DHR, Bloss, CS, Boehnke, M, Boomsma, DI, Breuer, R, Bruggeman, R, Cormican, P, Buccola, NG, Buitelaar, JK, Bunney, WE, Buxbaum, JD, Byerley, WF, Byrne, EM, Caesar, S, Cahn, W, Cantor, RM, Casas, M, Chakravarti, A, Chambert, K, Choudhury, K, and Cichon, S

Abstract

© 2015 Nature America, Inc. All rights reserved. Genome-wide association studies (GWAS) of psychiatric disorders have identified multiple genetic associations with such disorders, but better methods are needed to derive the underlying biological mechanisms that these signals indicate. We sought to identify biological pathways in GWAS data from over 60,000 participants from the Psychiatric Genomics Consortium. We developed an analysis framework to rank pathways that requires only summary statistics. We combined this score across disorders to find common pathways across three adult psychiatric disorders: schizophrenia, major depression and bipolar disorder. Histone methylation processes showed the strongest association, and we also found statistically significant evidence for associations with multiple immune and neuronal signaling pathways and with the postsynaptic density. Our study indicates that risk variants for psychiatric disorders aggregate in particular biological pathways and that these pathways are frequently shared between disorders. Our results confirm known mechanisms and suggest several novel insights into the etiology of psychiatric disorders.

Published
2015
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20. Exome Array GWAS in 10,000 Germans Identifies Association between MUC22 and Multiple Sclerosis

Author

Dankowski, T., Buck, D., Andlauer, T. F., Antony, G., Bayas, A., Bechmann, Lars Peter, Berthele, A., Bettecken, T., Chan, A., Franke, A., Gold, R., Graetz, C., Haas, J., Hecker, M., Herms, S., Hohlfeld, R., Infante-Duarte, C., Jöckel, Karl-Heinz, Kieseier, B. C., Knier, B., Knop, M., Lichtner, P., Lieb, W., Lill, C. M., Limmroth, V., Linker, R. A., Loleit, V., Meuth, S., Moebus, Susanne, Mueller-Myhsok, B., Nischwitz, S., Noethen, M. M., Friedemann, P., Pütz, Martin, Ruck, T., Salmen, A., Stangel, M., Stellmann, J. -. P., Strauch, K., Stuerner, K. H., Tackenberg, B., Bergh, F. T. h. e. n., Tumani, H., Waldenberger, M., Weber, F., Wiend, H., Wildemann, B., Zettl, U. K., Ziemann, U., Zipp, F., Hemmer, B., and Ziegler, A.

Subjects
Medizin
Published
2015

22. Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways.

Author

O'Dushlaine, C., Rossin, L., Lee, P.H., Duncan, L., Parikshak, N.N., Newhouse, S., Ripke, S., Neale, B.M., Purcell, S., Posthuma, D., Nurnberger, J.I., Lee, S.H., Faraone, S.V., Perlis, R.H., Mowry, B.J., Thapar, A., Goddard, M.E., Witte, J.S., Absher, D., Agartz, I., Akil, H., Amin, F., Andreassen, O.A., Anjorin, A., Anney, R., Anttila, V., Arking, D.E., Asherson, P., Azevedo, M.H., Backlund, L., Badner, J.A., Bailey, A.J., Banaschewski, T., Barchas, J.D., Barnes, M.R., Barrett, T.B., Bass, N., Battaglia, A., Bauer, M., Bayes, M., Bellivier, F., Bergen, S.E., Berrettini, W., Betancur, C., Bettecken, T., Biederman, J., Binder, E.B., Black, D.W., Blackwood, D.H., Bloss, C.S., Boehnke, M., Boomsma, D.I., Breuer, R., Bruggeman, R., Cormican, P., Buccola, N.G., Buitelaar, J.K., Bunney, W.E., Buxbaum, J.D., Byerley, W.F., Byrne, E.M., Caesar, S., Cahn, W., Cantor, R.M., Casas, M., Chakravarti, A., Chambert, K., Choudhury, K., Cichon, S., Mattheisen, M., Cloninger, C.R., Collier, D.A., Cook, E.H., Coon, H., Cormand, B., Corvin, A., Coryell, W.H., Craig, D.W., Craig, I., Crosbie, J., Cuccaro, M.L., Curtis, D., Czamara, D., Datta, S., Dawson, G., Day, R., Geus, E.J. de, Degenhardt, F., Djurovic, S., Donohoe, G., Doyle, A., Duan, J., Dudbridge, F., Duketis, E., Ebstein, R.P., Edenberg, H.J., Elia, J., Ennis, S., Etain, B., Fanous, A., Farmer, A., Ferrier, I.N., Flickinger, M., Foroud, T.M., Frank, J., Franke, B., Fraser, C., Freedman, R., Freimer, N.B., Freitag, C.M., Friedl, M., Frisen, L., Gallagher, L., Gejman, P.V., Georgieva, L., Gershon, E.S., Giegling, I., Gill, M., Gordon, S., Gordon-Smith, K., Green, E.K., Greenwood, T.A., Grice, D.E., Gross, M., Grozeva, D., Guan, W., Gurling, H., Haan, L. de, Haines, J.L., Hakonarson, H., Hallmayer, J., Hamilton, S.P., Hamshere, M., Hansen, T., Hartmann, A.M., Hauutzinger, M., Heath, A.C., Henders, A.K., Herms, S., Hickie, I., et al., O'Dushlaine, C., Rossin, L., Lee, P.H., Duncan, L., Parikshak, N.N., Newhouse, S., Ripke, S., Neale, B.M., Purcell, S., Posthuma, D., Nurnberger, J.I., Lee, S.H., Faraone, S.V., Perlis, R.H., Mowry, B.J., Thapar, A., Goddard, M.E., Witte, J.S., Absher, D., Agartz, I., Akil, H., Amin, F., Andreassen, O.A., Anjorin, A., Anney, R., Anttila, V., Arking, D.E., Asherson, P., Azevedo, M.H., Backlund, L., Badner, J.A., Bailey, A.J., Banaschewski, T., Barchas, J.D., Barnes, M.R., Barrett, T.B., Bass, N., Battaglia, A., Bauer, M., Bayes, M., Bellivier, F., Bergen, S.E., Berrettini, W., Betancur, C., Bettecken, T., Biederman, J., Binder, E.B., Black, D.W., Blackwood, D.H., Bloss, C.S., Boehnke, M., Boomsma, D.I., Breuer, R., Bruggeman, R., Cormican, P., Buccola, N.G., Buitelaar, J.K., Bunney, W.E., Buxbaum, J.D., Byerley, W.F., Byrne, E.M., Caesar, S., Cahn, W., Cantor, R.M., Casas, M., Chakravarti, A., Chambert, K., Choudhury, K., Cichon, S., Mattheisen, M., Cloninger, C.R., Collier, D.A., Cook, E.H., Coon, H., Cormand, B., Corvin, A., Coryell, W.H., Craig, D.W., Craig, I., Crosbie, J., Cuccaro, M.L., Curtis, D., Czamara, D., Datta, S., Dawson, G., Day, R., Geus, E.J. de, Degenhardt, F., Djurovic, S., Donohoe, G., Doyle, A., Duan, J., Dudbridge, F., Duketis, E., Ebstein, R.P., Edenberg, H.J., Elia, J., Ennis, S., Etain, B., Fanous, A., Farmer, A., Ferrier, I.N., Flickinger, M., Foroud, T.M., Frank, J., Franke, B., Fraser, C., Freedman, R., Freimer, N.B., Freitag, C.M., Friedl, M., Frisen, L., Gallagher, L., Gejman, P.V., Georgieva, L., Gershon, E.S., Giegling, I., Gill, M., Gordon, S., Gordon-Smith, K., Green, E.K., Greenwood, T.A., Grice, D.E., Gross, M., Grozeva, D., Guan, W., Gurling, H., Haan, L. de, Haines, J.L., Hakonarson, H., Hallmayer, J., Hamilton, S.P., Hamshere, M., Hansen, T., Hartmann, A.M., Hauutzinger, M., Heath, A.C., Henders, A.K., Herms, S., Hickie, I., and et al.

Abstract

Contains fulltext : 153763pre.pdf (preprint version ) (Open Access)

Published
2015

23. Identification of risk loci with shared effects on five major psychiatric disorders:a genome-wide analysis

Author

Smoller, J.W., Ripke, S., Lee, P.H., Neale, B., Nurnberger, J.I., Santangelo, S., Sullivan, P.F., Perlis, R.H., Purcell, S.M., Fanous, A., Neale, M.C., Rietschel, M., Schulze, T.G., Thapar, A., Anney, R., Buitelaar, J.K., Farone, S.V., Hoogendijk, W.J.G., Levinson, D.F., Lesch, K.P., Riley, B., Schachar, R., Sonuga-Barke, E.J., Absher, D., Agartz, I., Akil, H., Amin, F., Andreassen, O.A., Anjorin, A., Arking, D., Asherson, P., Azevedo, M.H., Backlund, L., Badner, J.A., Banaschewski, T., Barchas, J.D., Barnes, M.R., Bass, N., Bauer, M.C.R., Bellivier, F., Bergen, S.E., Berrettini, W., Bettecken, T., Biederman, J, Binder, E.B., Black, D.W., Blackwood, D.H., Bloss, C.S., Boehnke, M., Boomsma, D.I., Breen, G., Breuer, R., Buccola, N.G., Bunner, W.E., Burmeister, M., Buxbaum, J.D., Byerley, W. F., Sian, C., Cantor, R.M., Chakravarti, A., Chambert, K., Chicon, S., Cloniger, C.R., Collier, D.A., Cook, E., Coon, H., Corvin, A., Coryell, W.H., Craig, D.W., Craig, I.W., Curtis, D., Czamara, D., Daly, M., Datta, S., Day, R., de Geus, E.J.C., Degenhardt, F., Devlin, B., Srdjan, D., Doyle, A.E., Duan, J., Dudbridge, F., Edenberg, H.J., Elkin, A., Etain, B., Farmer, A.E., Ferreira, M.A.R., Ferrier, I.N., Flickinger, M., Foroud, T., Frank, J., Franke, B., Fraser, C., Freedman, R., Freimer, N.B., Friedl, M., Frisén, L., Gejman, P.V., Georgieva, L., Gershon, E.S., Giegling, I., Gill, M., Gordon, S.D., Gordon-Smith, K., Green, E.K., Greenwood, T.A., Gross, M., Grozeva, D., Guan, W., Gurling, H., Gustafsson, O., Hakonarson, H., Hamilton, S.P., Hamshere, M.L., Hansen, T.F., Hartmann, A.M., Hautzinger, M., Heath, A.C., Henders, A.K., Herms, S., Hickie, I.B., Hipolito, M., Hoefels, S., Holmans, P.A., Holsboer, F., Hottenga, J.J., Hultman, C. M., Ingason, A., Ising, M., Jamain, S., Jones, E.G., Jones, L., Jones, I., Jung-Ying, T., Kahler, A., Kandaswamy, R., Keller, M.C., Kelsoe, J., Kennedy, J.L., Kenny, E., Kim, Y., Kirov, G. K., Knowles, J.A., Kohli, M.A., Koller, D.L., Konte, B., Korszun, A., Krasucki, R., Kuntsi, J., Phoenix, K., Landén, M., Langstrom, N., Lathrop, M., Lawrence, J., Lawson, W.B., Leboyer, M., Lencz, T., Lewis, C.M., Li, J., Lichtenstein, P., Lieberman, J. A., Lin, D., Liu, C., Lohoff, F.W., Loo, S.K., Lucae, S., MacIntyre, D.J., Madden, P.A.F., Magnusson, P., Mahon, P.B., Maier, W., Malhotra, A.K., Mattheisen, M., Matthews, K., Mattingsdal, M., McCarroll, S., McGhee, K.A., McGough, J.J., McGrath, P.J., McGuffin, P., McInnis, M.G., McIntosh, A., McKinney, R., McClean, A.W., McMahon, F.J., McQuillin, A., Medeiros, H., Medland, S.E., Meier, S., Melle, I., Meng, F., Middeldorp, C.M., Middleton, L., Vihra, M., Mitchell, P.B., Montgomery, G.W., Moran, J., Morken, G., Morris, D.W., Moskvina, V., Mowry, B. J., Muglia, P., Mühleisen, T.W., Muir, W.J., Müller-Myhsok, B., Myers, R.M., Nelson, S.F., Nievergelt, C.M., Nikolovq, I., Nimgaonkar, V.L., Nolen, W.A., Nöthen, M.M., Nwulia, E.A., Nyholt, DR, O'Donovan, M.C., O'Dushlaine, C., Oades, R.D., Olincy, A., Olsen, L., Ophoff, R.A., Osby, U., Óskarsson, H., Owen, M.J., Palotie, A., Pato, M.T., Pato, C.N., Penninx, B.W.J.H., Pergadia, M.L., Petursson, H., Pickard, B.S., Pimm, J., Piven, J., Porgeirsson, P., Posthuma, D., Potash, J.B., Propping, J., Puri, V., Quested, D., Quinn, E.M., Rasmussen, H.B., Raychaudhuri, S., Rehnström, K., Reif, A., Rice, J., Rossin, L., Rothenberger, A., Rouleau, G., Ruderfer, D., Rujescu, D., Sanders, A.R., Schalling, M., Schatzberg, A.F., Scheftner, W.A., Schellenberg, G.D., Schofield, P.R., Schork, N.J., Schumacher, J., Schwarz, M.M., Scolnick, E., Scott, L.J., Shi, J., Shillling, P.D., Shyn, S.I., Sigurdsson, E., Silverman, J.M., Sklar, P., Slager, S.L., Smalley, S.L., Smit, J.H., Smith, E.N., Sonuga-Barke, E., St Clair, D., State, M., Stefansson, K., Stefansson, H., Steffans, M., Steinberg, S., Steinhausen, H.C., Strauss, J., Strohmaier, J., Stroup, T.S., Sutcliffe, J., Szatmari, P., Szelinger, S., Thirumalai, S., Thompson, R.C., Tozzi, F., Treutlein, J., Uhr, M., van den Oord, E.J., Grootheest, G., Vieland, V., Vincent, J.B., Visscher, P.M., Watson, S.J., Weissman, M.M., Werge, T., Wienker, T.F., Willemsen, G., Williamson, R., Witt, S.H., Wray, N.R., Wright, A., Xu, W., Young, A.H., Zammit, S., Zandi, P.P., Zhang, P., Zitman, F.G., Zöllner, S., Kendler, K.S., Psychiatry, Human genetics, Epidemiology and Data Science, NCA - Brain mechanisms in health and disease, NCA - Neurobiology of mental health, EMGO - Mental health, NCA - Brain imaging technology, Biological Psychology, Functional Genomics, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, EMGO+ - Mental Health, Neuroscience Campus Amsterdam - Brain Imaging Technology, Psychiatrie & Neuropsychologie, Farmacologie en Toxicologie, RS: CARIM School for Cardiovascular Diseases, RS: MHeNs School for Mental Health and Neuroscience, Oades, Robert D. (Beitragende*r), and Oades, Robert D.

Subjects
Netherlands Twin Register (NTR), Adult, medicine.medical_specialty, Bipolar Disorder, Calcium Channels, L-Type, Population, Medizin, Genome-wide association study, Biology, Polymorphism, Single Nucleotide, Article, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], medicine, ddc:61, Attention deficit hyperactivity disorder, Humans, DCN PAC - Perception action and control NCEBP 9 - Mental health, ddc:610, Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie, Psychosomatik und Psychotherapie des Kindes- und Jugendalters, Bipolar disorder, Age of Onset, Psychiatry, education, Child, Genetics, education.field_of_study, Depressive Disorder, Major, General Medicine, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], medicine.disease, Logistic Models, Autism spectrum disorder, Schizophrenia, Attention Deficit Disorder with Hyperactivity, Child Development Disorders, Pervasive, Genetic Loci, Expression quantitative trait loci, Major depressive disorder, Genome-Wide Association Study
Abstract

Item does not contain fulltext BACKGROUND: Findings from family and twin studies suggest that genetic contributions to psychiatric disorders do not in all cases map to present diagnostic categories. We aimed to identify specific variants underlying genetic effects shared between the five disorders in the Psychiatric Genomics Consortium: autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia. METHODS: We analysed genome-wide single-nucleotide polymorphism (SNP) data for the five disorders in 33,332 cases and 27,888 controls of European ancestory. To characterise allelic effects on each disorder, we applied a multinomial logistic regression procedure with model selection to identify the best-fitting model of relations between genotype and phenotype. We examined cross-disorder effects of genome-wide significant loci previously identified for bipolar disorder and schizophrenia, and used polygenic risk-score analysis to examine such effects from a broader set of common variants. We undertook pathway analyses to establish the biological associations underlying genetic overlap for the five disorders. We used enrichment analysis of expression quantitative trait loci (eQTL) data to assess whether SNPs with cross-disorder association were enriched for regulatory SNPs in post-mortem brain-tissue samples. FINDINGS: SNPs at four loci surpassed the cutoff for genome-wide significance (p

Published
2013
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24. A mega-analysis of genome-wide association studies for major depressive disorder

Author

Ripke, S, Wray, NR, Lewis, CM, Hamilton, SP, Weissman, MM, Breen, G, Byrne, EM, Blackwood, DHR, Boomsma, DI, Cichon, S, Heath, AC, Holsboer, F, Lucae, S, Madden, PA, Martin, NG, McGuffin, P, Muglia, P, Noethen, MM, Penninx, BP, Pergadia, ML, Potash, JB, Rietschel, M, Lin, DY, Muller-Myhsok, B, Shi, J, Steinberg, S, Grabe, HJ, Lichtenstein, P, Magnusson, P, Perlis, RH, Preisig, M, Smoller, JW, Stefansson, K, Uher, R, Kutalik, Z, Tansey, KE, Teumer, A, Viktorin, A, Barnes, MR, Bettecken, T, Binder, EB, Breuer, R, Castro, VM, Churchill, SE, Coryell, WH, Craddock, N, Craig, IW, Czamara, D, de Geus, EJC, Degenhardt, F, Farmer, AE, Fava, M, Frank, J, Gainer, VS, Gallagher, PJ, Gordon, SD, Goryachev, S, Gross, M, Guipponi, M, Henders, AK, Herms, S, Hickie, IB, Hoefels, S, Hoogendijk, Witte, Hottenga, JJ (Jouke Jan), Iosifescu, DV, Ising, M, Jones, I, Jones, L, Jung-Ying, T, Knowles, JA, Kohane, IS, Kohli, MA, Korszun, A, Landen, M, Lawson, WB, Lewis, G, MacIntyre, DJ, Maier, W, Mattheisen, M, McGrath, PJ, McIntosh, A, McLean, AW, Middeldorp, CM (Christel), Middleton, L, Montgomery, GM, Murphy, SN, Nauck, M, Nolen, WA, Nyholt, DR, O' Donovan, M, Oskarsson, H, Pedersen, N, Scheftner, WA, Schulz, TG, Shyn, SI, Sigurdsson, E, Slager, SL, Smit, JH, Stefansson, H, Steffens, M, Thorgeirsson, T, Tozzi, F, Treutlein, J, Uhr, M, van den Oord, EJCG (Edwin), Van Grootheest, G, Volzke, H, Weilburg, JB, Willemsen, G, Zitman, FG, Neale, BM, Daly, M, Levinson, DF, Sullivan, PF, Psychiatry, Epidemiology, and Child and Adolescent Psychiatry / Psychology

Published
2013

25. Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

Author

Knies, K., Schuster, B., Ameziane, N., Rooimans, M., Bettecken, T., de Winter, J.P., Schindler, D, Human genetics, and CCA - Oncogenesis

Subjects
Male, Genotype, Gene Identification and Analysis, Medizin, lcsh:Medicine, Molecular Genetics, Autosomal Recessive, Genome Analysis Tools, Genetics, Humans, Exome, ddc:610, lcsh:Science, Biology, Clinical Genetics, Base Sequence, Fanconi Anemia Complementation Group D2 Protein, lcsh:R, Cell Cycle, Computational Biology, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Human Genetics, Anemia, Genomics, Hematology, Bone Marrow Failure, Pedigree, Fanconi Anemia, Mutation, Medicine, lcsh:Q, Female, Sequence Analysis, Research Article
Abstract

Fanconi anemia (FA) is a rare genomic instability syndrome. Disease-causing are biallelic mutations in any one of at least 15 genes encoding members of the FA/BRCA pathway of DNA-interstrand crosslink repair. Patients are diagnosed based upon phenotypical manifestations and the diagnosis of FA is confirmed by the hypersensitivity of cells to DNA interstrand crosslinking agents. Customary molecular diagnostics has become increasingly cumbersome, time-consuming and expensive the more FA genes have been identified. We performed Whole Exome Sequencing (WES) in four FA patients in order to investigate the potential of this method for FA genotyping. In search of an optimal WES methodology we explored different enrichment and sequencing techniques. In each case we were able to identify the pathogenic mutations so that WES provided both, complementation group assignment and mutation detection in a single approach. The mutations included homozygous and heterozygous single base pair substitutions and a two-base-pair duplication in FANCJ, -D1, or -D2. Different WES strategies had no critical influence on the individual outcome. However, database errors and in particular pseudogenes impose obstacles that may prevent correct data perception and interpretation, and thus cause pitfalls. With these difficulties in mind, our results show that WES is a valuable tool for the molecular diagnosis of FA and a sufficiently safe technique, capable of engaging increasingly in competition with classical genetic approaches.

Published
2012
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27. Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci

Author

Simpson, C.L. (Claire), Wojciechowski, R. (Robert), Oexle, K. (Konrad), Murgia, D. (Daniela), Portas, L. (Laura), Li, X. (Xiaohui), Virginie, J.M.V. (J.M. Verhoeven), Vitart, V. (Veronique), Schache, M. (Maria), Mohsen Hosseini, S., Hysi, P.G. (Pirro), Raffel, L.J. (Leslie), Cotch, M.F. (Mary Frances), Chew, E.Y. (Emily), Klein, B.E.K. (Barbara), Klein, R. (Ronald), Wong, T.Y. (Tien Yin), Duijn, C.M. (Cornelia) van, Mitchell, P. (Paul), Saw, S-M. (Seang-Mei), Fossarello, M. (Maurizio), Wang, J.J. (Jie Jin), Polasek, O. (Ozren), Campbell, H. (Harry), Rudan, I. (Igor), Oostra, B.A. (Ben), Uitterlinden, A.G. (André), Hofman, A. (Albert), Rivadeneira Ramirez, F. (Fernando), Amin, N. (Najaf), Karssen, L.C. (Lennart), Vingerling, J.R. (Hans), Döring, A. (Angela), Bettecken, T. (Thomas), Bencic, G. (Goran), Gieger, C. (Christian), Wichmann, H.E. (Heinz Erich), Wilson, J.F. (James F), Venturini, C. (Cristina), Fleck, B. (Brian), Cumberland, P. (Phillippa), Rahi, J.S. (Jugnoo), Hammond, C.J. (Christopher), Hayward, C. (Caroline), Wright, A. (Alan), Paterson, A.D. (Andrew), Baird, P.N. (Paul), Klaver, C.C.W. (Caroline), Rotter, J.I. (Jerome I.), Pirastu, M. (Mario), Meitinger, T. (Thomas), Bailey-Wilson, J.E. (Joan E.), Stambolian, D.E. (Dwight), Simpson, C.L. (Claire), Wojciechowski, R. (Robert), Oexle, K. (Konrad), Murgia, D. (Daniela), Portas, L. (Laura), Li, X. (Xiaohui), Virginie, J.M.V. (J.M. Verhoeven), Vitart, V. (Veronique), Schache, M. (Maria), Mohsen Hosseini, S., Hysi, P.G. (Pirro), Raffel, L.J. (Leslie), Cotch, M.F. (Mary Frances), Chew, E.Y. (Emily), Klein, B.E.K. (Barbara), Klein, R. (Ronald), Wong, T.Y. (Tien Yin), Duijn, C.M. (Cornelia) van, Mitchell, P. (Paul), Saw, S-M. (Seang-Mei), Fossarello, M. (Maurizio), Wang, J.J. (Jie Jin), Polasek, O. (Ozren), Campbell, H. (Harry), Rudan, I. (Igor), Oostra, B.A. (Ben), Uitterlinden, A.G. (André), Hofman, A. (Albert), Rivadeneira Ramirez, F. (Fernando), Amin, N. (Najaf), Karssen, L.C. (Lennart), Vingerling, J.R. (Hans), Döring, A. (Angela), Bettecken, T. (Thomas), Bencic, G. (Goran), Gieger, C. (Christian), Wichmann, H.E. (Heinz Erich), Wilson, J.F. (James F), Venturini, C. (Cristina), Fleck, B. (Brian), Cumberland, P. (Phillippa), Rahi, J.S. (Jugnoo), Hammond, C.J. (Christopher), Hayward, C. (Caroline), Wright, A. (Alan), Paterson, A.D. (Andrew), Baird, P.N. (Paul), Klaver, C.C.W. (Caroline), Rotter, J.I. (Jerome I.), Pirastu, M. (Mario), Meitinger, T. (Thomas), Bailey-Wilson, J.E. (Joan E.), and Stambolian, D.E. (Dwight)

Abstract

Refractive error (RE) is a complex, multifactorial disorder characterized by a mismatch between the optical power of the eye and its axial length that causes object images to be focused off the retina. The two major subtypes of RE are myopia (nearsightedness) and hyperopia (farsightedness), which represent opposite ends of the distribution of the quantitative measure of spherical refraction. We performed a fixed effects meta-analysis of genome-wide association results of myopia and hyperopia from 9 studies of European-derived populations: AREDS, KORA, FES, OGP-Talana, MESA, RSI, RSII, RSIII and ERF. One genome-wide significant region was observed for myopia, corresponding to a previously identified myopia locus on 8q12 (p = 1.25610-8), which has been reported by Kiefer et al. as significantly associated with myopia age at onset and Verhoeven et al. as significantly associated to mean spherical-equivalent (MSE) refractive error. We observed two genomewide significant associations

Published
2014
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28. Genome-Wide Meta-Analysis of Myopia and Hyperopia Provides Evidence for Replication of 11 Loci

Author

Miao, X, Simpson, CL, Wojciechowski, R, Oexle, K, Murgia, F, Portas, L, Li, X, Verhoeven, VJM, Vitart, V, Schache, M, Hosseini, SM, Hysi, PG, Raffel, LJ, Cotch, MF, Chew, E, Klein, BEK, Klein, R, Wong, TY, Van Duijn, CM, Mitchell, P, Saw, SM, Fossarello, M, Wang, JJ, Polasek, O, Campbell, H, Rudan, I, Oostra, BA, Uitterlinden, AG, Hofman, A, Rivadeneira, F, Amin, N, Karssen, LC, Vingerling, JR, Doering, A, Bettecken, T, Bencic, G, Gieger, C, Wichmann, H-E, Wilson, JF, Venturini, C, Fleck, B, Cumberland, PM, Rahi, JS, Hammond, CJ, Hayward, C, Wright, AF, Paterson, AD, Baird, PN, Klaver, CCW, Rotter, JI, Pirastu, M, Meitinger, T, Bailey-Wilson, JE, Stambolian, D, Miao, X, Simpson, CL, Wojciechowski, R, Oexle, K, Murgia, F, Portas, L, Li, X, Verhoeven, VJM, Vitart, V, Schache, M, Hosseini, SM, Hysi, PG, Raffel, LJ, Cotch, MF, Chew, E, Klein, BEK, Klein, R, Wong, TY, Van Duijn, CM, Mitchell, P, Saw, SM, Fossarello, M, Wang, JJ, Polasek, O, Campbell, H, Rudan, I, Oostra, BA, Uitterlinden, AG, Hofman, A, Rivadeneira, F, Amin, N, Karssen, LC, Vingerling, JR, Doering, A, Bettecken, T, Bencic, G, Gieger, C, Wichmann, H-E, Wilson, JF, Venturini, C, Fleck, B, Cumberland, PM, Rahi, JS, Hammond, CJ, Hayward, C, Wright, AF, Paterson, AD, Baird, PN, Klaver, CCW, Rotter, JI, Pirastu, M, Meitinger, T, Bailey-Wilson, JE, and Stambolian, D

Abstract

Refractive error (RE) is a complex, multifactorial disorder characterized by a mismatch between the optical power of the eye and its axial length that causes object images to be focused off the retina. The two major subtypes of RE are myopia (nearsightedness) and hyperopia (farsightedness), which represent opposite ends of the distribution of the quantitative measure of spherical refraction. We performed a fixed effects meta-analysis of genome-wide association results of myopia and hyperopia from 9 studies of European-derived populations: AREDS, KORA, FES, OGP-Talana, MESA, RSI, RSII, RSIII and ERF. One genome-wide significant region was observed for myopia, corresponding to a previously identified myopia locus on 8q12 (p = 1.25×10(-8)), which has been reported by Kiefer et al. as significantly associated with myopia age at onset and Verhoeven et al. as significantly associated to mean spherical-equivalent (MSE) refractive error. We observed two genome-wide significant associations with hyperopia. These regions overlapped with loci on 15q14 (minimum p value = 9.11×10(-11)) and 8q12 (minimum p value 1.82×10(-11)) previously reported for MSE and myopia age at onset. We also used an intermarker linkage- disequilibrium-based method for calculating the effective number of tests in targeted regional replication analyses. We analyzed myopia (which represents the closest phenotype in our data to the one used by Kiefer et al.) and showed replication of 10 additional loci associated with myopia previously reported by Kiefer et al. This is the first replication of these loci using myopia as the trait under analysis. "Replication-level" association was also seen between hyperopia and 12 of Kiefer et al.'s published loci. For the loci that show evidence of association to both myopia and hyperopia, the estimated effect of the risk alleles were in opposite directions for the two traits. This suggests that these loci are important contributors to variation of refractive error acros

Published
2014

29. Genome-Wide Meta-Analysis of Myopia and Hyperopia Provides Evidence for Replication of 11 Loci

Author

Simpson, CL, Wojciechowski, R, Oexle, K, Murgia, F, Portas, L, Li, XH, Verhoeven, Virginie, Vitart, V, Schache, M, Hosseini, SM, Hysi, PG, Raffel, LJ, Cotch, MF, Chew, E, Klein, BEK, Klein, R, Wong, TY (Tien Yin), Duijn, Cornelia, Mitchell, P, Saw, SM, Fossarello, M, Wang, JJ, Polasek, O, Campbell, H, Rudan, I, Oostra, Ben, Uitterlinden, André, Hofman, Bert, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart, Vingerling, Hans, Doering, A, Bettecken, T, Bencic, G, Gieger, C, Wichmann, HE, Wilson, JF, Venturini, C, Fleck, B, Cumberland, PM, Rahi, JS, Hammond, CJ, Hayward, C, Wright, AF, Paterson, AD, Baird, PN, Klaver, Caroline, Rotter, JI, Pirastu, M, Meitinger, T, Bailey-Wilson, JE, Stambolian, D, Simpson, CL, Wojciechowski, R, Oexle, K, Murgia, F, Portas, L, Li, XH, Verhoeven, Virginie, Vitart, V, Schache, M, Hosseini, SM, Hysi, PG, Raffel, LJ, Cotch, MF, Chew, E, Klein, BEK, Klein, R, Wong, TY (Tien Yin), Duijn, Cornelia, Mitchell, P, Saw, SM, Fossarello, M, Wang, JJ, Polasek, O, Campbell, H, Rudan, I, Oostra, Ben, Uitterlinden, André, Hofman, Bert, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart, Vingerling, Hans, Doering, A, Bettecken, T, Bencic, G, Gieger, C, Wichmann, HE, Wilson, JF, Venturini, C, Fleck, B, Cumberland, PM, Rahi, JS, Hammond, CJ, Hayward, C, Wright, AF, Paterson, AD, Baird, PN, Klaver, Caroline, Rotter, JI, Pirastu, M, Meitinger, T, Bailey-Wilson, JE, and Stambolian, D

Abstract

Refractive error (RE) is a complex, multifactorial disorder characterized by a mismatch between the optical power of the eye and its axial length that causes object images to be focused off the retina. The two major subtypes of RE are myopia (nearsightedness) and hyperopia (farsightedness), which represent opposite ends of the distribution of the quantitative measure of spherical refraction. We performed a fixed effects meta-analysis of genome-wide association results of myopia and hyperopia from 9 studies of European-derived populations: AREDS, KORA, FES, OGP-Talana, MESA, RSI, RSII, RSIII and ERF. One genome-wide significant region was observed for myopia, corresponding to a previously identified myopia locus on 8q12 (p = 1.25x10(-8)), which has been reported by Kiefer et al. as significantly associated with myopia age at onset and Verhoeven et al. as significantly associated to mean spherical-equivalent (MSE) refractive error. We observed two genome-wide significant associations with hyperopia. These regions overlapped with loci on 15q14 (minimum p value = 9.11x10(-11)) and 8q12 (minimum p value 1.82x10(-11)) previously reported for MSE and myopia age at onset. We also used an intermarker linkage-disequilibrium-based method for calculating the effective number of tests in targeted regional replication analyses. We analyzed myopia (which represents the closest phenotype in our data to the one used by Kiefer et al.) and showed replication of 10 additional loci associated with myopia previously reported by Kiefer et al. This is the first replication of these loci using myopia as the trait under analysis. "Replication-level'' association was also seen between hyperopia and 12 of Kiefer et al.'s published loci. For the loci that show evidence of association to both myopia and hyperopia, the estimated effect of the risk alleles were in opposite directions for the two traits. This suggests that these loci are important contributors to variation of refractive error acros

Published
2014

31. Systematic mutation analysis of KIAA0767 and KIAA I646 in chromosome 22q-linked periodic catatonia

Author

Stöber, G., Kohlmann, B., Iekiera, M., Rubie, C., Gawlik, M., Möller-Ehrlich, K., Meitinger, T., and Bettecken, T.

Abstract

BACKGROUND: Periodic catatonia is a familial subtype of schizophrenia characterized by hyperkinetic and akinetic episodes, followed by a catatonic residual syndrome. The phenotype has been evaluated in two independent genome-wide linkage scans with evidence for a major locus on chromosome 15q15, and a second independent locus on chromosome 22qtel. METHODS: In the positional and brain-expressed candidate genes KIAA0767 and KIAA1646, we searched for variants in the complete exons and adjacent splice-junctions as well as in parts of the 5'- and 3'-untranslated regions by means of a systematic mutation screening in individuals from chromosome 22q-linked pedigrees. RESULTS: The mutation scan revealed 24 single nucleotide polymorphisms, among them two rare codon variants (KIAA0767: S159I; KIAA1646: V338G). However, both were neither found segregating with the disease in the respective pedigree nor found at a significant frequency in a case-control association sample. CONCLUSION: Starting from linkage signals at chromosome22qtel in periodic catatonia, we screened two positional brain-expressed candidate genes for genetic variation. Our study excludes genetic variations in the coding and putative promoter regions of KIAA0767 and KIAA1646 as causative factors for periodic catatonia.

Published
2005

32. Linkage analysis in myopia

Author

Rudolph, G, Kalpadakis, P, Dellantonio, K, Tasser, J, Bettecken, T, and Meitinger, T

Subjects
ddc: 610
Published
2004

33. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Author

Lee, Shermin, Ripke, S., Neale, B.M., Faraone, S.V., Purcell, S.M., Perlis, R.H., Mowry, B.J., Thapar, A., Goddard, M.E., Witte, J.S., Absher, D., Agartz, I., Akil, H., Amin, F., Andreassen, O.A., Anjorin, A., Anney, R., Anttila, V., Arking, D.E., Asherson, P., Azevedo, M.H., Backlund, L., Badner, J.A., Bailey, A.J., Banaschewski, T., Barchas, J.D., Barnes, M.R., Barrett, T.B., Bass, N., Battaglia, A., Bauer, M., Bayes, M., Bellivier, F., Bergen, S.E., Berrettini, W., Betancur, C., Bettecken, T., Biederman, J., Binder, E.B., Black, D.W., Blackwood, D.H., Bloss, C.S., Boehnke, M., Boomsma, D.I., Breen, G., Breuer, R., Bruggeman, R., Cormican, P., Buccola, N.G., Buitelaar, J.K., Bunney, W.E., Buxbaum, J.D., Byerley, W.F., Byrne, E.M., Caesar, S., Cahn, W., Cantor, R.M., Casas, M., Chakravarti, A., Chambert, K., Choudhury, K., Cichon, S., Cloninger, C.R., Collier, D.A., Cook, E.H., Coon, H., Cormand, B., Corvin, A., Coryell, W.H., Craig, D.W., Craig, I.W., Crosbie, J., Cuccaro, M.L., Curtis, D., Czamara, D., Datta, S., Dawson, G., Day, R., Geus, E.J. de, Degenhardt, F., Djurovic, S., Donohoe, G.J., Doyle, A.E., Duan, J., Dudbridge, F., Duketis, E., Ebstein, R.P., Edenberg, H.J., Elia, J., Ennis, S., Etain, B., Fanous, A., Farmer, A.E., Ferrier, I.N., Flickinger, M., Fombonne, E., Foroud, T., Frank, J., Franke, B., et al., Lee, Shermin, Ripke, S., Neale, B.M., Faraone, S.V., Purcell, S.M., Perlis, R.H., Mowry, B.J., Thapar, A., Goddard, M.E., Witte, J.S., Absher, D., Agartz, I., Akil, H., Amin, F., Andreassen, O.A., Anjorin, A., Anney, R., Anttila, V., Arking, D.E., Asherson, P., Azevedo, M.H., Backlund, L., Badner, J.A., Bailey, A.J., Banaschewski, T., Barchas, J.D., Barnes, M.R., Barrett, T.B., Bass, N., Battaglia, A., Bauer, M., Bayes, M., Bellivier, F., Bergen, S.E., Berrettini, W., Betancur, C., Bettecken, T., Biederman, J., Binder, E.B., Black, D.W., Blackwood, D.H., Bloss, C.S., Boehnke, M., Boomsma, D.I., Breen, G., Breuer, R., Bruggeman, R., Cormican, P., Buccola, N.G., Buitelaar, J.K., Bunney, W.E., Buxbaum, J.D., Byerley, W.F., Byrne, E.M., Caesar, S., Cahn, W., Cantor, R.M., Casas, M., Chakravarti, A., Chambert, K., Choudhury, K., Cichon, S., Cloninger, C.R., Collier, D.A., Cook, E.H., Coon, H., Cormand, B., Corvin, A., Coryell, W.H., Craig, D.W., Craig, I.W., Crosbie, J., Cuccaro, M.L., Curtis, D., Czamara, D., Datta, S., Dawson, G., Day, R., Geus, E.J. de, Degenhardt, F., Djurovic, S., Donohoe, G.J., Doyle, A.E., Duan, J., Dudbridge, F., Duketis, E., Ebstein, R.P., Edenberg, H.J., Elia, J., Ennis, S., Etain, B., Fanous, A., Farmer, A.E., Ferrier, I.N., Flickinger, M., Fombonne, E., Foroud, T., Frank, J., Franke, B., and et al.

Abstract

Item does not contain fulltext, Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype data from the Psychiatric Genomics Consortium (PGC) for cases and controls in schizophrenia, bipolar disorder, major depressive disorder, autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). We apply univariate and bivariate methods for the estimation of genetic variation within and covariation between disorders. SNPs explained 17-29% of the variance in liability. The genetic correlation calculated using common SNPs was high between schizophrenia and bipolar disorder (0.68 +/- 0.04 s.e.), moderate between schizophrenia and major depressive disorder (0.43 +/- 0.06 s.e.), bipolar disorder and major depressive disorder (0.47 +/- 0.06 s.e.), and ADHD and major depressive disorder (0.32 +/- 0.07 s.e.), low between schizophrenia and ASD (0.16 +/- 0.06 s.e.) and non-significant for other pairs of disorders as well as between psychiatric disorders and the negative control of Crohn's disease. This empirical evidence of shared genetic etiology for psychiatric disorders can inform nosology and encourages the investigation of common pathophysiologies for related disorders.

Published
2013

34. Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene

Author

Koch G, Sibylle Jakubiczka, Bettecken T, Wieacker P, Beyhan Tüysüz, and Bernd Wollnik

Subjects
Male, Parents, Turkey, DNA Mutational Analysis, Disorders of Sex Development, SOX9, medicine.disease_cause, Osteochondrodysplasias, Pathology and Forensic Medicine, Exon, medicine, Humans, Point Mutation, Genetics (clinical), Genetics, Mutation, business.industry, Point mutation, High Mobility Group Proteins, Karyotype, SOX9 Transcription Factor, General Medicine, Sex reversal, medicine.disease, Campomelic dysplasia, Child, Preschool, HMG-Box Domains, Pediatrics, Perinatology and Child Health, Anatomy, Haploinsufficiency, business, Transcription Factors
Abstract

Campomelic dysplasia is a rare neonatal skeletal malformation syndrome mainly characterized by congenital bowing and angulation of long bones in combination with other skeletal and extraskeletal defects. Two thirds of karyotypic males exhibit male-to-female sex reversal. Point mutations within SOX9 in 17q24-25 or rearrangements upstream to SOX9 as well as a deletion of a complete gene, causing haploinsufficiency of the gene product, have been detected in some patients. Recurrent mutations appear to be rare and most mutations detected in campomelic dysplasia are family specific. Here, we report on a Turkish patient with a 46,XY karyotype affected by campomelic dysplasia without sex reversal. Sequencing the SOX9 gene revealed a heterozygous Ala119Val mutation in exon 1, coding for the highly conserved HMG-box of the gene. This mutation is not present in the parents' lymphocyte DNAs. The same mutation was recently reported in a patient with 46,XX karyotype. Additionally, our patient is homozygous for the common polymorphism c507C-->T, while both parents are heterozygous.

Published
2001

35. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

Author

Verhoeven, V.J.M. (Virginie), Hysi, P.G. (Pirro), Saw, S-M. (Seang-Mei), Vitart, V. (Veronique), Mirshahi, A. (Alireza), Guggenheim, J. (Jean), Cotch, M.F. (Mary Frances), Yamashiro, K. (Kenji), Baird, P.N. (Paul), Mackey, D.A. (David), Wojciechowski, R. (Robert), Ikram, M.K. (Kamran), Hewit, A.W. (Alex), Duggal, P. (Priya), Janmahasatian, S. (Sarayut), Khor, C.C., Fan, Q. (Qiao), Zhou, X. (Xinying), Young, T.L. (Terri), Tai, E.S. (Shyong), Goh, L.-K., Li, Y.J. (Yi), Aung, T. (Tin), Vithana, E.N. (Eranga), Teo, Y.Y. (Yik Ying), Tay, W.-T., Sim, X. (Xueling), Rudan, I. (Igor), Hayward, C. (Caroline), Wright, A.F. (Alan), Polasek, O. (Ozren), Campbell, H. (Harry), Wilson, J.F. (James), Fleck, B. (Brian), Nakata, I. (Isao), Yoshimura, N., Yamada, R. (Ryo), Matsuda, F. (Fumihiko), Ohno-Matsui, K. (Kyoko), Nag, A. (Abhishek), Mcmahon, G. (George), St Pourcain, B. (Beate), Lu, Y. (Yi), Rahi, J.S. (Jugnoo), Cumberland, P. (Phillippa), Bhattacharya, S. (Shoumo), Simpson, C.L. (Claire), Atwood, L.D. (Larry), Li, X. (Xiaohui), Raffel, L.J. (Leslie), Murgia, D. (Daniela), Portas, L. (Laura), Despriet, D.D.G. (Dominique), Koolwijk, L.M.E. (Leonieke) van, Wolfram, C. (Christian), Lackner, K.J. (Karl), Tönjes, A. (Anke), Mägi, R. (Reedik), Lehtimäki, T. (Terho), Kähönen, M. (Mika), Esko, T. (Tõnu), Metspalu, A. (Andres), Rantanen, T. (Taina), Pärssinen, O. (Olavi), Klein, B.E.K. (Barbara), Meitinger, T. (Thomas), Spector, T.D. (Timothy), Oostra, B.A. (Ben), Smith, A.V. (Davey), Jong, P.T.V.M. (Paulus) de, Hofman, A. (Albert), Amin, N. (Najaf), Karssen, L.C. (Lennart), Rivadeneira Ramirez, F. (Fernando), Vingerling, J.R. (Hans), Eiriksdottir, G. (Gudny), Gudnason, V. (Vilmundur), Döring, A. (Angela), Bettecken, T. (Thomas), Uitterlinden, A.G. (André), Williams, C. (Cathy), Zeller, T. (Tanja), Castagne, R. (Raphaële), Oexle, K. (Konrad), Duijn, C.M. (Cornelia) van, Iyengar, S.K. (Sudha), Mitchell, P. (Paul), Wang, J.J. (Jie Jin), Höhn, R. (René), Pfeiffer, A.F.H. (Andreas), Bailey-Wilson, J.E. (Joan), Stambolian, D.E. (Dwight), Wong, T.Y. (Tien Yin), Hammond, C.J. (Christopher), Klaver, C.C.W. (Caroline), Verhoeven, V.J.M. (Virginie), Hysi, P.G. (Pirro), Saw, S-M. (Seang-Mei), Vitart, V. (Veronique), Mirshahi, A. (Alireza), Guggenheim, J. (Jean), Cotch, M.F. (Mary Frances), Yamashiro, K. (Kenji), Baird, P.N. (Paul), Mackey, D.A. (David), Wojciechowski, R. (Robert), Ikram, M.K. (Kamran), Hewit, A.W. (Alex), Duggal, P. (Priya), Janmahasatian, S. (Sarayut), Khor, C.C., Fan, Q. (Qiao), Zhou, X. (Xinying), Young, T.L. (Terri), Tai, E.S. (Shyong), Goh, L.-K., Li, Y.J. (Yi), Aung, T. (Tin), Vithana, E.N. (Eranga), Teo, Y.Y. (Yik Ying), Tay, W.-T., Sim, X. (Xueling), Rudan, I. (Igor), Hayward, C. (Caroline), Wright, A.F. (Alan), Polasek, O. (Ozren), Campbell, H. (Harry), Wilson, J.F. (James), Fleck, B. (Brian), Nakata, I. (Isao), Yoshimura, N., Yamada, R. (Ryo), Matsuda, F. (Fumihiko), Ohno-Matsui, K. (Kyoko), Nag, A. (Abhishek), Mcmahon, G. (George), St Pourcain, B. (Beate), Lu, Y. (Yi), Rahi, J.S. (Jugnoo), Cumberland, P. (Phillippa), Bhattacharya, S. (Shoumo), Simpson, C.L. (Claire), Atwood, L.D. (Larry), Li, X. (Xiaohui), Raffel, L.J. (Leslie), Murgia, D. (Daniela), Portas, L. (Laura), Despriet, D.D.G. (Dominique), Koolwijk, L.M.E. (Leonieke) van, Wolfram, C. (Christian), Lackner, K.J. (Karl), Tönjes, A. (Anke), Mägi, R. (Reedik), Lehtimäki, T. (Terho), Kähönen, M. (Mika), Esko, T. (Tõnu), Metspalu, A. (Andres), Rantanen, T. (Taina), Pärssinen, O. (Olavi), Klein, B.E.K. (Barbara), Meitinger, T. (Thomas), Spector, T.D. (Timothy), Oostra, B.A. (Ben), Smith, A.V. (Davey), Jong, P.T.V.M. (Paulus) de, Hofman, A. (Albert), Amin, N. (Najaf), Karssen, L.C. (Lennart), Rivadeneira Ramirez, F. (Fernando), Vingerling, J.R. (Hans), Eiriksdottir, G. (Gudny), Gudnason, V. (Vilmundur), Döring, A. (Angela), Bettecken, T. (Thomas), Uitterlinden, A.G. (André), Williams, C. (Cathy), Zeller, T. (Tanja), Castagne, R. (Raphaële), Oexle, K. (Konrad), Duijn, C.M. (Cornelia) van, Iyengar, S.K. (Sudha), Mitchell, P. (Paul), Wang, J.J. (Jie Jin), Höhn, R. (René), Pfeiffer, A.F.H. (Andreas), Bailey-Wilson, J.E. (Joan), Stambolian, D.E. (Dwight), Wong, T.Y. (Tien Yin), Hammond, C.J. (Christopher), and Klaver, C.C.W. (Caroline)

Abstract

Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis study in which we assessed whether these two loci are also associated with myopia in other populations. The study population comprised 31 cohorts from the Consortium of Refractive Error and Myopia (CREAM) representing 4 different continents with 55,177 individuals; 42,845 Caucasians and 12,332 Asians. We performed a meta-analysis of 14 single nucleotide polymorphisms (SNPs) on 15q14 and 5 SNPs on 15q25 using linear regression analysis with spherical equivalent as a quantitative outcome, adjusted for age and sex. We calculated the odds ratio (OR) of myopia versus hyperopia for carriers of the top-SNP alleles using a fixed effects meta-analysis. At locus 15q14, all SNPs were significantly replicated, with the lowest P value 3.87 × 10 -12 for SNP rs634990 in Caucasians, and 9.65 × 10 -4 for rs8032019 in Asians. The overall meta-analysis provided P value 9.20 × 10 -23 for the top SNP rs634990. The risk of myopia versus hyperopia was OR 1.88 (95 % CI 1.64, 2.16, P < 0.001) for homozygous carriers of the risk allele at the top SNP rs634990, and OR 1.33 (95 % CI 1.19, 1.49, P < 0.001) for heterozygous carriers. SNPs at locus 15q25 did not replicate significantly (P value 5.81 × 10 -2 for top SNP rs939661). We conclude that common variants at chromosome 15q14 influence susceptibility for myopia in Caucasian and Asian populations world-wide.

Published
2012
Full Text
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36. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

Author

Verhoeven, VJM, Hysi, PG, Saw, S-M, Vitart, V, Mirshahi, A, Guggenheim, JA, Cotch, MF, Yamashiro, K, Baird, PN, Mackey, DA, Wojciechowski, R, Ikram, MK, Hewitt, AW, Duggal, P, Janmahasatian, S, Khor, C-C, Fan, Q, Zhou, X, Young, TL, Tai, E-S, Goh, L-K, Li, Y-J, Aung, T, Vithana, E, Teo, Y-Y, Tay, W, Sim, X, Rudan, I, Hayward, C, Wright, AF, Polasek, O, Campbell, H, Wilson, JF, Fleck, BW, Nakata, I, Yoshimura, N, Yamada, R, Matsuda, F, Ohno-Matsui, K, Nag, A, McMahon, G, St Pourcain, B, Lu, Y, Rahi, JS, Cumberland, PM, Bhattacharya, S, Simpson, CL, Atwood, LD, Li, X, Raffel, LJ, Murgia, F, Portas, L, Despriet, DDG, van Koolwijk, LME, Wolfram, C, Lackner, KJ, Toenjes, A, Maegi, R, Lehtimaki, T, Kahonen, M, Esko, T, Metspalu, A, Rantanen, T, Parssinen, O, Klein, BE, Meitinger, T, Spector, TD, Oostra, BA, Smith, AV, de Jong, PTVM, Hofman, A, Amin, N, Karssen, LC, Rivadeneira, F, Vingerling, JR, Eiriksdottir, G, Gudnason, V, Doering, A, Bettecken, T, Uitterlinden, AG, Williams, C, Zeller, T, Castagne, R, Oexle, K, van Duijn, CM, Iyengar, SK, Mitchell, P, Wang, JJ, Hoehn, R, Pfeiffer, N, Bailey-Wilson, JE, Stambolian, D, Wong, T-Y, Hammond, CJ, Klaver, CCW, Verhoeven, VJM, Hysi, PG, Saw, S-M, Vitart, V, Mirshahi, A, Guggenheim, JA, Cotch, MF, Yamashiro, K, Baird, PN, Mackey, DA, Wojciechowski, R, Ikram, MK, Hewitt, AW, Duggal, P, Janmahasatian, S, Khor, C-C, Fan, Q, Zhou, X, Young, TL, Tai, E-S, Goh, L-K, Li, Y-J, Aung, T, Vithana, E, Teo, Y-Y, Tay, W, Sim, X, Rudan, I, Hayward, C, Wright, AF, Polasek, O, Campbell, H, Wilson, JF, Fleck, BW, Nakata, I, Yoshimura, N, Yamada, R, Matsuda, F, Ohno-Matsui, K, Nag, A, McMahon, G, St Pourcain, B, Lu, Y, Rahi, JS, Cumberland, PM, Bhattacharya, S, Simpson, CL, Atwood, LD, Li, X, Raffel, LJ, Murgia, F, Portas, L, Despriet, DDG, van Koolwijk, LME, Wolfram, C, Lackner, KJ, Toenjes, A, Maegi, R, Lehtimaki, T, Kahonen, M, Esko, T, Metspalu, A, Rantanen, T, Parssinen, O, Klein, BE, Meitinger, T, Spector, TD, Oostra, BA, Smith, AV, de Jong, PTVM, Hofman, A, Amin, N, Karssen, LC, Rivadeneira, F, Vingerling, JR, Eiriksdottir, G, Gudnason, V, Doering, A, Bettecken, T, Uitterlinden, AG, Williams, C, Zeller, T, Castagne, R, Oexle, K, van Duijn, CM, Iyengar, SK, Mitchell, P, Wang, JJ, Hoehn, R, Pfeiffer, N, Bailey-Wilson, JE, Stambolian, D, Wong, T-Y, Hammond, CJ, and Klaver, CCW

Abstract

Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis study in which we assessed whether these two loci are also associated with myopia in other populations. The study population comprised 31 cohorts from the Consortium of Refractive Error and Myopia (CREAM) representing 4 different continents with 55,177 individuals; 42,845 Caucasians and 12,332 Asians. We performed a meta-analysis of 14 single nucleotide polymorphisms (SNPs) on 15q14 and 5 SNPs on 15q25 using linear regression analysis with spherical equivalent as a quantitative outcome, adjusted for age and sex. We calculated the odds ratio (OR) of myopia versus hyperopia for carriers of the top-SNP alleles using a fixed effects meta-analysis. At locus 15q14, all SNPs were significantly replicated, with the lowest P value 3.87 × 10(-12) for SNP rs634990 in Caucasians, and 9.65 × 10(-4) for rs8032019 in Asians. The overall meta-analysis provided P value 9.20 × 10(-23) for the top SNP rs634990. The risk of myopia versus hyperopia was OR 1.88 (95 % CI 1.64, 2.16, P < 0.001) for homozygous carriers of the risk allele at the top SNP rs634990, and OR 1.33 (95 % CI 1.19, 1.49, P < 0.001) for heterozygous carriers. SNPs at locus 15q25 did not replicate significantly (P value 5.81 × 10(-2) for top SNP rs939661). We conclude that common variants at chromosome 15q14 influence susceptibility for myopia in Caucasian and Asian populations world-wide.

Published
2012

37. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

Author

Verhoeven, Virginie, Hysi, PG, Saw, SM, Vitart, V, Mirshahi, A, Guggenheim, JA, Cotch, MF, Yamashiro, K, Baird, PN, Mackey, DA, Wojciechowski, R, Ikram, Kamran, Hewitt, AW, Duggal, P, Janmahasatian, S, Khor, CC, Fan, Q, Zhou, X, Young, TL, Tai, ES, Goh, LK, Li, YJ, Aung, T, Vithana, E, Teo, YY, Tay, W, Sim, X, Rudan, I, Hayward, C, Wright, AF, Polasek, O, Campbell, H, Wilson, JF, Fleck, BW, Nakata, I, Yoshimura, N, Yamada, R, Matsuda, F, Ohno-Matsui, K, Nag, A, McMahon, G, St Pourcain, B, Lu, Y (Yi), Rahi, JS, Cumberland, PM, Bhattacharya, S, Simpson, CL, Atwood, LD, Li, XH, Raffel, LJ, Murgia, F, Portas, L, Despriet, Dominiek, Koolwijk, Leonieke, Wolfram, C, Lackner, KJ, Tonjes, A, Magi, R, Lehtimaki, T, Kahonen, M, Esko, T, Metspalu, A, Rantanen, T, Parssinen, O, Klein, BE, Meitinger, T, Spector, TD, Oostra, Ben, Smith, AV, de Jong, PTVM (Paulus), Hofman, Bert, Amin, Najaf, Karssen, Lennart, Rivadeneira, Fernando, Vingerling, Hans, Eiriksdottir, G, Gudnason, V, Doring, A, Bettecken, T, Uitterlinden, André, Williams, C, Zeller, T, Castagne, R, Oexle, K, Duijn, Cornelia, Iyengar, SK, Mitchell, P, Wang, JJ, Hohn, R, Pfeiffer, N, Bailey-Wilson, JE, Stambolian, D, Wong, TY, Hammond, CJ, Klaver, Caroline, Verhoeven, Virginie, Hysi, PG, Saw, SM, Vitart, V, Mirshahi, A, Guggenheim, JA, Cotch, MF, Yamashiro, K, Baird, PN, Mackey, DA, Wojciechowski, R, Ikram, Kamran, Hewitt, AW, Duggal, P, Janmahasatian, S, Khor, CC, Fan, Q, Zhou, X, Young, TL, Tai, ES, Goh, LK, Li, YJ, Aung, T, Vithana, E, Teo, YY, Tay, W, Sim, X, Rudan, I, Hayward, C, Wright, AF, Polasek, O, Campbell, H, Wilson, JF, Fleck, BW, Nakata, I, Yoshimura, N, Yamada, R, Matsuda, F, Ohno-Matsui, K, Nag, A, McMahon, G, St Pourcain, B, Lu, Y (Yi), Rahi, JS, Cumberland, PM, Bhattacharya, S, Simpson, CL, Atwood, LD, Li, XH, Raffel, LJ, Murgia, F, Portas, L, Despriet, Dominiek, Koolwijk, Leonieke, Wolfram, C, Lackner, KJ, Tonjes, A, Magi, R, Lehtimaki, T, Kahonen, M, Esko, T, Metspalu, A, Rantanen, T, Parssinen, O, Klein, BE, Meitinger, T, Spector, TD, Oostra, Ben, Smith, AV, de Jong, PTVM (Paulus), Hofman, Bert, Amin, Najaf, Karssen, Lennart, Rivadeneira, Fernando, Vingerling, Hans, Eiriksdottir, G, Gudnason, V, Doring, A, Bettecken, T, Uitterlinden, André, Williams, C, Zeller, T, Castagne, R, Oexle, K, Duijn, Cornelia, Iyengar, SK, Mitchell, P, Wang, JJ, Hohn, R, Pfeiffer, N, Bailey-Wilson, JE, Stambolian, D, Wong, TY, Hammond, CJ, and Klaver, Caroline

Abstract

Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis study in which we assessed whether these two loci are also associated with myopia in other populations. The study population comprised 31 cohorts from the Consortium of Refractive Error and Myopia (CREAM) representing 4 different continents with 55,177 individuals; 42,845 Caucasians and 12,332 Asians. We performed a meta-analysis of 14 single nucleotide polymorphisms (SNPs) on 15q14 and 5 SNPs on 15q25 using linear regression analysis with spherical equivalent as a quantitative outcome, adjusted for age and sex. We calculated the odds ratio (OR) of myopia versus hyperopia for carriers of the top-SNP alleles using a fixed effects meta-analysis. At locus 15q14, all SNPs were significantly replicated, with the lowest P value 3.87 x 10(-12) for SNP rs634990 in Caucasians, and 9.65 x 10(-4) for rs8032019 in Asians. The overall meta-analysis provided P value 9.20 x 10(-23) for the top SNP rs634990. The risk of myopia versus hyperopia was OR 1.88 (95 % CI 1.64, 2.16, P < 0.001) for homozygous carriers of the risk allele at the top SNP rs634990, and OR 1.33 (95 % CI 1.19, 1.49, P < 0.001) for heterozygous carriers. SNPs at locus 15q25 did not replicate significantly (P value 5.81 x 10(-2) for top SNP rs939661). We conclude that common variants at chromosome 15q14 influence susceptibility for myopia in Caucasian and Asian populations world-wide.

Published
2012

38. Proteomic-based genotyping in a mouse model of trait anxiety exposes disease: relevant pathways

Author

Ditzen, C., Varadarajulu, J., Czibere, L., Gonik, M., Targosz, B., Hambsch, B., Bettecken, T., Kessler, Melanie, Frank, Elisabeth T, Bunck, M., Teplytska, L., Erhardt, A., Holsboer, F., Muller-Myhsok, B., Landgraf, R., Turck, C., Ditzen, C., Varadarajulu, J., Czibere, L., Gonik, M., Targosz, B., Hambsch, B., Bettecken, T., Kessler, Melanie, Frank, Elisabeth T, Bunck, M., Teplytska, L., Erhardt, A., Holsboer, F., Muller-Myhsok, B., Landgraf, R., and Turck, C.

Published
2010

41. A 400-kb tandem duplication within the dystrophin gene leads to severe Becker muscular dystrophy

Author

Ralf Gold, Bettecken T, Heinz Reichmann, Wolfram Kress, and Clemens R. Müller

Subjects
Adult, Electrophoresis, Male, Biology, Muscular Dystrophies, Dystrophin, Exon, Gene duplication, medicine, Humans, Muscular dystrophy, Gene, Southern blot, Repetitive Sequences, Nucleic Acid, Genetics, DNA, Exons, medicine.disease, Phenotype, Immunohistochemistry, Blotting, Southern, Neurology, Multigene Family, biology.protein, Female, Neurology (clinical), Tandem exon duplication
Abstract

We describe a family with a large duplication of exons 2–16 of the dystrophin gene. It was characterized by immunocytochemistry, field-inversion gel electrophoresis and quantitative Southern blots. Our observations are of clinical interest in that they demonstrate an intermediate disease course despite a disrupted reading frame of dystrophin as postulated from exon-intron boundaries. We discuss possible mechanisms which may explain the unusual phenotype in our patient.

Published
1994

42. More CLEC16A gene variants associated with multiple sclerosis

Author

Nischwitz, S., primary, Cepok, S., additional, Kroner, A., additional, Wolf, C., additional, Knop, M., additional, Müller-Sarnowski, F., additional, Pfister, H., additional, Rieckmann, P., additional, Hemmer, B., additional, Ising, M., additional, Uhr, M., additional, Bettecken, T., additional, Holsboer, F., additional, Müller-Myhsok, B., additional, and Weber, F., additional

Published
2010
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43. TMEM132D, a new candidate for anxiety phenotypes: evidence from human and mouse studies

Author

Erhardt, A, primary, Czibere, L, additional, Roeske, D, additional, Lucae, S, additional, Unschuld, P G, additional, Ripke, S, additional, Specht, M, additional, Kohli, M A, additional, Kloiber, S, additional, Ising, M, additional, Heck, A, additional, Pfister, H, additional, Zimmermann, P, additional, Lieb, R, additional, Pütz, B, additional, Uhr, M, additional, Weber, P, additional, Deussing, J M, additional, Gonik, M, additional, Bunck, M, additional, Keßler, M S, additional, Frank, E, additional, Hohoff, C, additional, Domschke, K, additional, Krakowitzky, P, additional, Maier, W, additional, Bandelow, B, additional, Jacob, C, additional, Deckert, J, additional, Schreiber, S, additional, Strohmaier, J, additional, Nöthen, M, additional, Cichon, S, additional, Rietschel, M, additional, Bettecken, T, additional, Keck, M E, additional, Landgraf, R, additional, Müller-Myhsok, B, additional, Holsboer, F, additional, and Binder, E B, additional

Published
2010
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44. A genome-wide association study points to multiple loci predicting antidepressant treatment outcome in depression

Author

Ising, M, primary, Lucae, S, additional, Binder, EB, additional, Bettecken, T, additional, Uhr, M, additional, Ripke, S, additional, Kohli, MA, additional, Hennings, JM, additional, Horstmann, S, additional, Kloiber, S, additional, Menke, A, additional, Bondy, B, additional, Rupprecht, R, additional, Domschke, K, additional, Baune, BT, additional, Arolt, V, additional, Rush, AJ, additional, Holsboer, F, additional, and Müller-Myhsok, B, additional

Published
2009
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45. The Munich PTSD Biomarker Study (MPBS)

Author

Schmidt, U, primary, Gall-Kleebach, D, additional, Pfister, H, additional, Czesny, N, additional, Spoormaker, VI, additional, Rein, T, additional, Uhr, M, additional, Bettecken, T, additional, Holsboer, F, additional, and Ising, M, additional

Published
2009
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46. The neuronal transporter gene SLC6A15 confers risk to major depression

Author

Lucae, S, primary, Kohli, MA, additional, Schmidt, MV, additional, Sämann, PG, additional, Demirkan, A, additional, Hek, K, additional, Salyakina, D, additional, Ripke, S, additional, Roeske, D, additional, van Duijn, CM, additional, Uhr, M, additional, Bettecken, T, additional, Holsboer, F, additional, Müller-Myhsok, B, additional, and Binder, EB, additional

Published
2009
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49. Proteomic-based genotyping in a mouse model of trait anxiety exposes disease-relevant pathways

Author

Ditzen, C, primary, Varadarajulu, J, additional, Czibere, L, additional, Gonik, M, additional, Targosz, B S, additional, Hambsch, B, additional, Bettecken, T, additional, Keßler, M S, additional, Frank, E, additional, Bunck, M, additional, Teplytska, L, additional, Erhardt, A, additional, Holsboer, F, additional, Müller-Myhsok, B, additional, Landgraf, R, additional, and Turck, C W, additional

Published
2009
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