Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

Autor: Caroline C W Klaver, Xiaoyan Luo, Albert Hofman, Arni B Stefansson, Christopher J Hammond, Fridbert Jonasson, Louis R. Pasquale, Norbert Pfeiffer, Jun Li, Johannes R. Vingerling, Gudmar Thorleifsson, Nicholas G. Martin, René Höhn, Ananth C. Viswanathan, Sarah Ennis, Jonathan L. Haines, Craig E. Pennell, Vesteinn Jonsson, Jessica N. Cooke Bailey, Kathryn P. Burdon, Lennart C. Karssen, Céline Bellenguez, Pirro G. Hysi, Philipp S. Wild, Dominiek D. G. Despriet, James F. Wilson, Cécile Delcourt, Jamie E Craig, Michael A. Hauser, Philippe Amouyel, Leonieke M E van Koolwijk, Andrea Senft, Chiea Chuen Khor, Tien Yin Wong, Tin Aung, Tanja Zeller, Nomdo M. Jansonius, Yik Ying Teo, Yingfeng Zheng, Terri L. Young, David A. Mackey, Brian W Fleck, Roger C. W. Wolfs, Veronique Vitart, Ching-Yu Cheng, Paulus T. V. M. de Jong, Joan E. Bailey-Wilson, Kari Stefansson, Alireza Mirshahi, Lisa S. Kearns, James F Kirwan, Ben A. Oostra, Andrew J. Lotery, Sayoko E. Moroi, Rhys Fogarty, Henriët Springelkamp, R. Rand Allingham, Eranga N. Vithana, Julia E. Richards, André G. Uitterlinden, Wishal D. Ramdas, Cristina Venturini, Paul Leo, Kerrin S. Small, Fernando Rivadeneira, Stuart MacGregor, Jiemin Liao, Karl J. Lackner, Cornelia M. van Duijn, Sandra E Staffieri, Alex W. Hewitt, Hans G Lemij, Seang-Mei Saw, Seyhan Yazar, Janey L. Wiggs, Gabriel Cuellar-Partida, Jae H. Kang, Abhishek Nag, Adriana I Iglesias, Najaf Amin, Tim D. Spector, Claire L. Simpson, Cécilia Maubaret, Robert Wojciechowski, E-Shyong Tai, Liang Xu, Ya Xing Wang, Elisabeth M. van Leeuwen, Ayse Bilge Ozel, Unnur Thorsteinsdottir, Stephanie J. Loomis

Publikováno v: Nature Genetics, 46(10), 1126-1130. Nature Publishing Group
Nature Genetics, 46(10), 1126-1130
Nature genetics, 46(10), 1126-1130. Nature Publishing Group
Nature genetics
Nature Genetics, 46(10), 1126-30. Nature Publishing Group

Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 populati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::168e3aecc686f9a55eaa1e094fb26ae4
https://pure.eur.nl/en/publications/4b859410-3363-4564-9294-9cc3251696e5

A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14

Autor: Abbas M Solouki, Aaron Isaacs, Paulus T. V. M. de Jong, David A. Mackey, Leonieke M E van Koolwijk, M. Kamran Ikram, Najaf Amin, Jacqueline J. M. Willemse-Assink, Albert Hofman, Christopher J Hammond, Cornelia M. van Duijn, André G. Uitterlinden, Frans C. C. Riemslag, Yurii S. Aulchenko, Lintje Ho, Wishal D. Ramdas, Fernando Rivadeneira, Sigrid M. A. Swagemakers, Monika A. Czudowska, Virginie J. M. Verhoeven, Dominiek D. G. Despriet, Rogier Kramer, Annemieke J.M.H. Verkerk, Terri L. Young, Pirro G. Hysi, Arthur A.B. Bergen, Ben A. Oostra, Robert W A M Kuijpers, Gabriel van Rij, Johannes R. Vingerling, Theo G. M. F. Gorgels, Maksim Struchalin, Andy A.L.J. van Oosterhout, Tim D. Spector, Caroline C W Klaver

Publikováno v: Nature Genetics
Nature Genetics; Vol 42
Nature Genetics, 42(10), 897-901. Nature Publishing Group
Nature genetics, 42(10), 897-+. Nature Publishing Group
Nature Genetics, 42(10), 897
Nature Genetics, 42, 897-901. Nature Publishing Group

Refractive errors are the most common ocular disorders worldwide and may lead to blindness. Although this trait is highly heritable, identification of susceptibility genes has been challenging. We conducted a genome-wide association study for refract

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c751405c3b19e0185010a2ae17c4c8d

A Common Polymorphism in the Complement Factor H Gene Is Associated With Increased Risk of Myocardial Infarction

Autor: Caroline C W Klaver, Isabella Kardys, Ben A. Oostra, Jacqueline C.M. Witteman, Paulus T. V. M. de Jong, Cornelia M. van Duijn, André G. Uitterlinden, Dominiek D. G. Despriet, Albert Hofman, Arthur A.B. Bergen

Publikováno v: Journal of the American College of Cardiology. 47:1568-1575

Objectives This study was designed to investigate the association between a common polymorphism (Tyr402His, rs1061170) in the complement factor H (CFH) gene and risk of coronary heart disease. Background The evidence that inflammation is an important

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b079b3e3e3c741c0bf694cee40114632
https://doi.org/10.1016/j.jacc.2005.11.076

Usefulness of combining complement factor H and C-reactive protein genetic profiles for predicting myocardial infarction (from the Rotterdam Study)

Autor: Jacqueline C.M. Witteman, Isabella Kardys, Dominiek D. G. Despriet, Paulus T. V. M. de Jong, Albert Hofman, Moniek P.M. de Maat, Caroline C W Klaver, André G. Uitterlinden

Publikováno v: American journal of cardiology, 100(4), 646-648. Elsevier Inc.
American Journal of Cardiology, 100(4), 646-648. Elsevier Inc.

Complement factor H (CFH) is an important regulator of the complement cascade. Binding of C-reactive protein (CRP) to CFH augments the ability of CFH to downregulate the effect of complement in atherosclerotic lesions. The CFH Tyr402His polymorphism

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c62b66dfb5336fc7f81902ebcf4bff4
https://doi.org/10.1016/j.amjcard.2007.03.079

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

Autor: Beate St Pourcain, Vilmundur Gudnason, Taina Rantanen, Joan E. Bailey-Wilson, Anke Tönjes, Sudha K. Iyengar, Caroline Hayward, Ben A. Oostra, Lennart C. Karssen, Yi Lu, Barbara E.K. Klein, Igor Rudan, Federico Murgia, Wan Ting Tay, Veronique Vitart, M. Kamran Ikram, Tien Yin Wong, James F. Wilson, Seang-Mei Saw, Kyoko Ohno-Matsui, Tin Aung, Christian Wolfram, Liang Kee Goh, Ozren Polasek, Olavi Pärssinen, Cathy Williams, Paul Mitchell, Thomas Meitinger, Thomas Bettecken, Mika Kähönen, Dominiek D. G. Despriet, Guðný Eiríksdóttir, Angela Döring, Alireza Mirshahi, Eranga N. Vithana, Yi-Ju Li, Jie Jin Wang, David A. Mackey, Brian W Fleck, Laura Portas, Isao Nakata, Tõnu Esko, George McMahon, Tanja Zeller, Terri L. Young, Albert V. Smith, Phillippa M. Cumberland, Shomi S. Bhattacharya, Norbert Pfeiffer, Karl J. Lackner, Johannes R. Vingerling, Fernando Rivadeneira, Andres Metspalu, Caroline C W Klaver, Xin Zhou, Alan F. Wright, Priya Duggal, Leslie J. Raffel, Albert Hofman, Jugnoo S Rahi, Kenji Yamashiro, Ryo Yamada, Reedik Mägi, Cornelia M. van Duijn, Jeremy A. Guggenheim, Virginie J. M. Verhoeven, René Höhn, Nagahisa Yoshimura, Xueling Sim, Terho Lehtimäki, Harry Campbell, Pirro G. Hysi, Konrad Oexle, Raphaële Castagné, Mary Frances Cotch, Robert Wojciechowski, E-Shyong Tai, Tim D. Spector, Claire L. Simpson, Dwight Stambolian, Yik Ying Teo, André G. Uitterlinden, Larry D. Atwood, Abhishek Nag, Paul N. Baird, Qiao Fan, Najaf Amin, Chiea Chuen Khor, Paulus T. V. M. de Jong, Xiaohui Li, Christopher J Hammond, Sarayut Janmahasatian, Fumihiko Matsuda, Alex W. Hewitt, Leonieke M E van Koolwijk

Publikováno v: Human genetics 131 (2012): 1467–1480. doi:10.1007/s00439-012-1176-0
info:cnr-pdr/source/autori:Verhoeven VJ, Hysi PG, Saw SM, 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 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, Rahi JS, Cumberland PM, Bhattacharya S, Simpson CL, Atwood LD, Li X, Raffel LJ, Murgia F, Portas L, Despriet DD, van Koolwijk LM, Wolfram C, Lackner KJ, Tönjes A, Mägi R, Lehtimäki T, Kähönen M, Esko T, Metspalu A, Rantanen T, Pärssinen O, Klein BE, Meitinger T, Spector TD, Oostra BA, Smith AV, de Jong PT, Hofman A, Amin N, Karssen LC, Rivadeneira F, Vingerling JR, Eiríksdóttir G, Gudnason V, Döring A, Bettecken T, Uitterlinden AG, Williams C, Zeller T, Castagné R, Oexle K, van Duijn CM, Iyengar SK, Mitchell P, Wang JJ, Höhn R, Pfeiffer N, Bailey-Wilson JE, Stambolian D, Wong TY, Hammond CJ, Klaver CC./titolo:Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium./doi:10.1007%2Fs00439-012-1176-0/rivista:Human genetics/anno:2012/pagina_da:1467/pagina_a:1480/intervallo_pagine:1467–1480/volume:131
Human Genetics, 131(9), 1467-1480. Springer-Verlag
Human Genetics; Vol 131
Verhoeven, V J M, Hysi, P G, Saw, S-M, Vitart, V, Mirshahi, A, Guggenheim, J A, Cotch, M F, Yamashiro, K, Baird, P N, Mackey, D A, Wojciechowski, R, Ikram, M K, Hewitt, A W, Duggal, P, Janmahasatian, S, Khor, C-C, Fan, Q, Zhou, X, Young, T L, 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, A F, Polasek, O, Campbell, H, Wilson, J F, Fleck, B W, Nakata, I, Yoshimura, N, Yamada, R, Matsuda, F, Ohno-Matsui, K, Nag, A, McMahon, G, St Pourcain, B, Lu, Y, Rahi, J S, Cumberland, P M, Bhattacharya, S, Simpson, C L, Atwood, L D, Li, X, Raffel, L J, Murgia, F, Portas, L, Despriet, D D G, van Koolwijk, L M E, Wolfram, C, Lackner, K J, Tönjes, A, Mägi, R, Lehtimäki, T, Kähönen, M, Esko, T, Metspalu, A, Rantanen, T, Pärssinen, O, Klein, B E, Meitinger, T, Spector, T D, Oostra, B A, Smith, A V, de Jong, P T V M, Hofman, A, Amin, N, Karssen, L C, Rivadeneira, F, Vingerling, J R, Eiríksdóttir, G, Gudnason, V, Döring, A, Bettecken, T, Uitterlinden, A G, Williams, C, Zeller, T, Castagné, R, Oexle, K, van Duijn, C M, Iyengar, S K, Mitchell, P, Wang, J J, Höhn, R, Pfeiffer, N, Bailey-Wilson, J E, Stambolian, D, Wong, T-Y, Hammond, C J & Klaver, C C W 2012, ' Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium ', Human Genetics, vol. 131, no. 9, pp. 1467-80 . https://doi.org/10.1007/s00439-012-1176-0
Human Genetics
Hum. Genet. 131, 1467-1480 (2012)
Human genetics, 131(9), 1467-1480. Springer Verlag

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. H

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::feea35a9c4fd8d2dbc0e531c2dd7682f
http://www.cnr.it/prodotto/i/198134