@article{vanKoolwijkRamdasIkrametal.2012,
  author    = {van Koolwijk, Leonieke M. E. and Ramdas, Wishal D. and Ikram, M. Kamran and Jansonius, Nomdo M. and Pasutto, Francesca and Hys, Pirro G. and Macgregor, Stuart and Janssen, Sarah F. and Hewitt, Alex W. and Viswanathan, Ananth C. and ten Brink, Jacoline B. and Hosseini, S. Mohsen and Amin, Najaf and Despriet, Dominiek D. G. and Willemse-Assink, Jacqueline J. M. and Kramer, Rogier and Rivadeneira, Fernando and Struchalin, Maksim and Aulchenko, Yurii S. and Weisschuh, Nicole and Zenkel, Matthias and Mardin, Christian Y. and Gramer, Eugen and Welge-L{\"u}ssen, Ulrich and Montgomery, Grant W. and Carbonaro, Francis and Young, Terri L. and Bellenguez, C{\´e}line and McGuffin, Peter and Foster, Paul J. and Topouzis, Fotis and Mitchell, Paul and Wang, Jie Jin and Wong, Tien Y. and Czudowska, Monika A. and Hofman, Albert and Uitterlinden, Andre G. and Wolfs, Roger C. W. and de Jong, Paulus T. V. M. and Oostra, Ben A. and Paterson, Andrew D. and Mackey, David A. and Bergen, Arthur A. B. and Reis, Andre and Hammond, Christopher J. and Vingerling, Johannes R. and Lemij, Hans G. and Klaver, Caroline C. W. and van Duijn, Cornelia M.},
  title     = {Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma},
  series = {PLoS Genetics},
  volume    = {8},
  journal   = {PLoS Genetics},
  number    = {5},
  doi       = {10.1371/journal.pgen.1002611},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-131378},
  pages     = {e1002611},
  year      = {2012},
  abstract  = {Intraocular pressure (IOP) is a highly heritable risk factor for primary open-angle glaucoma and is the only target for current glaucoma therapy. The genetic factors which determine IOP are largely unknown. We performed a genome-wide association study for IOP in 11,972 participants from 4 independent population-based studies in The Netherlands. We replicated our findings in 7,482 participants from 4 additional cohorts from the UK, Australia, Canada, and the Wellcome Trust Case-Control Consortium 2/Blue Mountains Eye Study. IOP was significantly associated with rs11656696, located in GAS7 at 17p13.1 (p = 1.4 x 10\(^{-8}\)), and with rs7555523, located in TMCO1 at 1q24.1 (p = 1.6 x 10\(^{-8}\)). In a meta-analysis of 4 case-control studies (total N = 1,432 glaucoma cases), both variants also showed evidence for association with glaucoma (p = 2.4 x 10\(^{-2}\) for rs11656696 and p = 9.1 x 10\(^{-4}\) for rs7555523). GAS7 and TMCO1 are highly expressed in the ciliary body and trabecular meshwork as well as in the lamina cribrosa, optic nerve, and retina. Both genes functionally interact with known glaucoma disease genes. These data suggest that we have identified two clinically relevant genes involved in IOP regulation.},
  language  = {en}
}
@article{JanssenMarohn1994,
  author    = {Janssen, A. and Marohn, Frank},
  title     = {On statistical information of extreme order statistics, local extreme value alternatives, and Poisson point processes},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-45816},
  year      = {1994},
  abstract  = {The aim of the present paper is to clarify the role of extreme order statistics in general statistical models. This is done within the general setup of statistical experiments in LeCam's sense. Under the assumption of monotone likelihood ratios, we prove that a sequence of experiments is asymptotically Gaussian if, and only if, a fixed number of extremes asymptotically does not contain any information. In other words: A fixed number of extremes asymptotically contains information iff the Poisson part of the limit experiment is non-trivial. Suggested by this result, we propose a new extreme value model given by local alternatives. The local structure is described by introducing the space of extreme value tangents. It turns out that under local alternatives a new class of extreme value distributions appears as limit distributions. Moreover, explicit representations of the Poisson limit experiments via Poisson point processes are found. As a concrete example nonparametric tests for Frechet type distributions against stochastically larger alternatives are treated. We find asymptotically optimal tests within certain threshold models.},
  language  = {en}
}