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X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements
M. Scholz, K. Horn, J. Pott, M. Wuttke, A. Kühnapfel, MK. Nasr, H. Kirsten, Y. Li, A. Hoppmann, M. Gorski, S. Ghasemi, M. Li, A. Tin, JF. Chai, M. Cocca, J. Wang, T. Nutile, M. Akiyama, BO. Åsvold, N. Bansal, ML. Biggs, T. Boutin, H. Brenner, B....
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu metaanalýza, časopisecké články
Perzistentní odkaz
https://www.medvik.cz/link/bmc24007561
Grantová podpora
MC_UU_00007/10
Medical Research Council - United Kingdom
R01 HL105756
NHLBI NIH HHS - United States
Online
Plný text
NLK
Directory of Open Access Journals
od 2015
Free Medical Journals
od 2010
Nature Open Access
od 2010-12-01
PubMed Central
od 2012
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od 2012
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od 2010-01-01
Open Access Digital Library
od 2015-01-01
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od 2015-01-01
Medline Complete (EBSCOhost)
od 2012-11-01
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od 2010-01-01
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od 2010
Springer Nature OA/Free Journals
od 2010-12-01
- MeSH
- androgeny * genetika MeSH
- celogenomová asociační studie * MeSH
- genetická predispozice k nemoci MeSH
- jednonukleotidový polymorfismus MeSH
- ledviny MeSH
- lidé MeSH
- lidské chromozomy X genetika MeSH
- responzivní elementy MeSH
- tetraspaniny genetika MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- metaanalýza MeSH
X-chromosomal genetic variants are understudied but can yield valuable insights into sexually dimorphic human traits and diseases. We performed a sex-stratified cross-ancestry X-chromosome-wide association meta-analysis of seven kidney-related traits (n = 908,697), identifying 23 loci genome-wide significantly associated with two of the traits: 7 for uric acid and 16 for estimated glomerular filtration rate (eGFR), including four novel eGFR loci containing the functionally plausible prioritized genes ACSL4, CLDN2, TSPAN6 and the female-specific DRP2. Further, we identified five novel sex-interactions, comprising male-specific effects at FAM9B and AR/EDA2R, and three sex-differential findings with larger genetic effect sizes in males at DCAF12L1 and MST4 and larger effect sizes in females at HPRT1. All prioritized genes in loci showing significant sex-interactions were located next to androgen response elements (ARE). Five ARE genes showed sex-differential expressions. This study contributes new insights into sex-dimorphisms of kidney traits along with new prioritized gene targets for further molecular research.
5th Department of Medicine Medical Faculty Mannheim University of Heidelberg Heidelberg Germany
Beijing Tongren Eye Center Beijing Tongren Hospital Capital Medical University Beijing China
BioCore Bioinformatics Core Facility Norwegian University of Science and Technology Trondheim Norway
Cardiovascular Health Research Unit Department of Medicine University of Washington Seattle WA USA
Center for Public Health Genomics University of Virginia Charlottesville Charlottesville VA USA
Clinic of Laboratory Medicine St Olavs Hospital Trondheim University Hospital Trondheim Norway
Department of Anatomy and Cell Biology University Medicine Greifswald Greifswald Germany
Department of Biomedical Informatics Harvard Medical School Boston MA USA
Department of Biostatistics University of Washington Seattle WA USA
Department of Cardiology Heart Center Tampere University Hospital Tampere Finland
Department of Cardiology Södersjukhuset Stockholm Sweden
Department of Clinical Biochemistry Landspitali University Hospital Reykjavik Iceland
Department of Clinical Epidemiology Leiden University Medical Center Leiden the Netherlands
Department of Clinical Physiology and Nuclear Medicine Turku University Hospital Turku Finland
Department of Clinical Physiology Tampere University Hospital Tampere Finland
Department of Clinical Science and Education Södersjukhuset Karolinska Institutet Stockholm Sweden
Department of Endocrinology St Olavs Hospital Trondheim University Hospital Trondheim Norway
Department of Epidemiology Johns Hopkins Bloomberg School of Public Health Baltimore MD USA
Department of Genetic Epidemiology University of Regensburg Regensburg Germany
Department of Genetics University of North Carolina Chapel Hill NC USA
Department of Genome Informatics Graduate School of Medicine the University of Tokyo Tokyo Japan
Department of Medical Epidemiology and Biostatistics Karolinska Institutet Solna Sweden
Department of Medicine 2 Charles University Prague 1st Faculty of Medicine Prague Czech Republic
Department of Medicine University of Illinois at Chicago Chicago IL USA
Department of Medicine University of Leipzig Leipzig Germany
Department of Nephrology St Olavs Hospital Trondheim University Hospital Trondheim Norway
Department of Nephrology University Hospital Regensburg Regensburg Germany
Department of Ophthalmology Medical Faculty Mannheim University Heidelberg Mannheim Germany
Department of Psychiatry and Psychotherapy University Medicine Greifswald Greifswald Germany
Department of Psychology University of Miami Coral Gables FL USA
Department of Public Health and Primary Care Leiden University Medical Center Leiden the Netherlands
Department of Public Health Sciences Loyola University Chicago Maywood IL USA
Department of Statistical Genetics Osaka University Graduate School of Medicine Osaka Japan
Division of Medicine and Laboratory Sciences Faculty of Medicine University of Oslo Oslo Norway
Division of Nephrology and Hypertension Loyola University Chicago Chicago IL USA
Division of Nephrology University of Washington Seattle WA USA
Division of Preventive Medicine Brigham and Women's Hospital Boston MA USA
Duke NUS Medical School Singapore Singapore
DZHK partner site Greifswald Greifswald Germany
eCODE Genetics Amgen Inc Reykjavik Iceland
Eurac Research Institute for Biomedicine Bolzano Italy
Faculty of Medicine School of Health Sciences University of Iceland Reykjavik Iceland
Finnish Institute for Health and Welfare Helsinki Finland
Finnish Medicines Agency Kuopio Finland
Genetics Merck and Co Inc Kenilworth NJ USA
Genome Institute of Singapore Agency for Science Technology and Research Singapore Singapore
Harvard Medical School Boston MA USA
Iceland School of Engineering and Natural Sciences University of Iceland Reykjavik Iceland
Institute for Community Medicine University Medicine Greifswald Greifswald Germany
Institute for Laboratory Medicine University of Leipzig Leipzig Germany
Institute for Maternal and Child Health IRCCS 'Burlo Garofolo' Trieste Italy
Institute for Medical Informatics Statistics and Epidemiology University of Leipzig Leipzig Germany
Institute for Minority Health Research University of Illinois at Chicago Chicago IL USA
Institute of Genetics and Biophysics 'Adriano Buzzati Traverso' CNR Naples Italy
Institute of Molecular and Clinical Ophthalmology Basel Switzerland
Janssen Pharmaceuticals Inc Titusville NJ 08560 USA
Kidney Research Institute University of Washington Seattle WA USA
Laboratory for Statistical Analysis RIKEN Center for Integrative Medical Sciences Yokohama Japan
Laboratory for Systems Genetics RIKEN Center for Integrative Medical Sciences Yokohama Japan
LIFE Research Center for Civilization Diseases University of Leipzig Leipzig Germany
Medpharmgene Montreal QC Canada
Montreal University Hospital Research Center CHUM Montréal QC Canada
Network Aging Research Heidelberg University Heidelberg Germany
Privatpraxis Prof Jonas und Dr Panda Jonas Heidelberg Germany
Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA
QIMR Berghofer Medical Research Institute Brisbane QLD Australia
Research Center of Applied and Preventive Cardiovascular Medicine University of Turku Turku Finland
Singapore Eye Research Institute Singapore National Eye Center Singapore Singapore
Synlab Academy Synlab Holding Deutschland GmbH Augsburg Germany
SYNLAB MVZ Humangenetik Mannheim Mannheim Germany
The George Institute for Global Health School of Public Health Imperial College London London UK
The George Institute for Global Health University of New South Wales Sydney NSW Australia
Tsinghua Medicine Tsinghua University Beijing China
University of Queensland Brisbane QLD Australia
University of Split Medical School Split Croatia
Usher Institute University of Edinburgh Teviot Place Edinburgh EH8 9AG Scotland
Vanderbilt Genetics Institute Vanderbilt University Medical Center Nashville TN USA
Vanderbilt University Medical Center Division of Nephrology and Hypertension Nashville TN USA
Citace poskytuje Crossref.org
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- $a Körner, Antje $u LIFE Research Center for Civilization Diseases, University of Leipzig, Leipzig, Germany $u University Hospital for Children and Adolescents, Pediatric Research Unit, Medical Faculty, University Medical Center, University of Leipzig, Leipzig, Germany $u Helmholtz Institute for Metabolic, Obesity and Vascular Research (HI-MAG) of the Helmholtz Zentrum München at the University of Leipzig and University Hospital Leipzig, Leipzig, Germany $1 https://orcid.org/0000000160010356
- 700 1_
- $a Kovacs, Peter $u Department of Medicine, University of Leipzig, Leipzig, Germany $1 https://orcid.org/0000000202905423
- 700 1_
- $a Krajcoviechova, Alena $u Center for Cardiovascular Prevention, Charles University in Prague, First Faculty of Medicine and Thomayer University Hospital, Prague, Czech Republic
- 700 1_
- $a Kramer, Holly $u Department of Public Health Sciences, Loyola University Chicago, Maywood, IL, USA $u Division of Nephrology and Hypertension, Loyola University Chicago, Chicago, IL, USA $1 https://orcid.org/000000026374837X
- 700 1_
- $a Krämer, Bernhard K $u Vth Department of Medicine (Nephrology, Hypertensiology, Rheumatology, Endocrinology, Diabetology), Medical Faculty Mannheim, University of Heidelberg, Heidelberg, Germany $1 https://orcid.org/0000000217182918
- 700 1_
- $a Kuokkanen, Mikko $u Finnish Institute for Health and Welfare, Helsinki, Finland $u Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland $u Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX, USA $1 https://orcid.org/0000000343759327
- 700 1_
- $a Kähönen, Mika $u Department of Clinical Physiology, Tampere University Hospital, Tampere, Finland $u Department of Clinical Physiology, Finnish Cardiovascular Research Center - Tampere, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland
- 700 1_
- $a Lange, Leslie A $u Division of Biomedical Informatics and Personalized Medicine, School of Medicine, University of Colorado Denver-Anschutz Medical Campus, Aurora, CO, USA
- 700 1_
- $a Lash, James P $u Department of Medicine, University of Illinois at Chicago, Chicago, IL, USA $1 https://orcid.org/0000000265804080
- 700 1_
- $a Lehtimäki, Terho $u Department of Clinical Chemistry, Fimlab Laboratories, and The Wellbeing Services County of Pirkanmaa, Tampere, Finland $u Department of Clinical Chemistry, Finnish Cardiovascular Research Center - Tampere, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland $1 https://orcid.org/0000000225554427
- 700 1_
- $a Li, Hengtong $u Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore
- 700 1_
- $a Lin, Bridget M $u Department of Biostatistics, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
- 700 1_
- $a Liu, Jianjun $u Genome Institute of Singapore, Agency for Science Technology and Research, Singapore, Singapore $u Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore $1 https://orcid.org/0000000232553019
- 700 1_
- $a Loeffler, Markus $u Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany $u LIFE Research Center for Civilization Diseases, University of Leipzig, Leipzig, Germany
- 700 1_
- $a Lyytikäinen, Leo-Pekka $u Department of Clinical Chemistry, Fimlab Laboratories, and The Wellbeing Services County of Pirkanmaa, Tampere, Finland $u Department of Clinical Chemistry, Finnish Cardiovascular Research Center - Tampere, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland $1 https://orcid.org/0000000272005455
- 700 1_
- $a Magnusson, Patrik K E $u Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Solna, Sweden $1 https://orcid.org/0000000273157899
- 700 1_
- $a Martin, Nicholas G $u QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia $1 https://orcid.org/0000000340698020
- 700 1_
- $a Matsuda, Koichi $u Laboratory of Clinical Genome Sequencing, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan
- 700 1_
- $a Milaneschi, Yuri $u Department of Psychiatry, Amsterdam Public Health and Amsterdam Neuroscience, Amsterdam UMC/Vrije Universiteit and GGZ inGeest, Amsterdam, the Netherlands $1 https://orcid.org/0000000236976617
- 700 1_
- $a Mishra, Pashupati P $u Department of Clinical Chemistry, Fimlab Laboratories, and The Wellbeing Services County of Pirkanmaa, Tampere, Finland $u Department of Clinical Chemistry, Finnish Cardiovascular Research Center - Tampere, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland
- 700 1_
- $a Mononen, Nina $u Department of Clinical Chemistry, Fimlab Laboratories, and The Wellbeing Services County of Pirkanmaa, Tampere, Finland $u Department of Clinical Chemistry, Finnish Cardiovascular Research Center - Tampere, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland
- 700 1_
- $a Montgomery, Grant W $u University of Queensland, Brisbane, QLD, Australia $1 https://orcid.org/0000000241408139
- 700 1_
- $a Mook-Kanamori, Dennis O $u Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, the Netherlands $u Department of Public Health and Primary Care, Leiden University Medical Center, Leiden, the Netherlands
- 700 1_
- $a Mychaleckyj, Josyf C $u Center for Public Health Genomics, University of Virginia, Charlottesville, Charlottesville, VA, USA $1 https://orcid.org/0000000325950005
- 700 1_
- $a März, Winfried $u Vth Department of Medicine (Nephrology, Hypertensiology, Rheumatology, Endocrinology, Diabetology), Medical Faculty Mannheim, University of Heidelberg, Heidelberg, Germany $u Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University Graz, Graz, Austria $u Synlab Academy, Synlab Holding Deutschland GmbH, Augsburg, Germany
- 700 1_
- $a Nauck, Matthias $u DZHK (German Center for Cardiovascular Research), partner site Greifswald, Greifswald, Germany $u Institute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald, Greifswald, Germany $1 https://orcid.org/0000000266787964
- 700 1_
- $a Nikus, Kjell $u Department of Cardiology, Heart Center, Tampere University Hospital, Tampere, Finland $u Department of Cardiology, Finnish Cardiovascular Research Center - Tampere, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland
- 700 1_
- $a Nolte, Ilja M $u Department of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands $1 https://orcid.org/0000000150474077
- 700 1_
- $a Noordam, Raymond $u Department of Internal Medicine, Section of Gerontology and Geriatrics, Leiden University Medical Center, Leiden, the Netherlands $1 https://orcid.org/000000017801809X
- 700 1_
- $a Okada, Yukinori $u Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences (IMS), Yokohama, Japan $u Department of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka, Japan $u Department of Genome Informatics, Graduate School of Medicine, the University of Tokyo, Tokyo, Japan $1 https://orcid.org/0000000203118472
- 700 1_
- $a Olafsson, Isleifur $u Department of Clinical Biochemistry, Landspitali University Hospital, Reykjavik, Iceland
- 700 1_
- $a Oldehinkel, Albertine J $u Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Department of Psychiatry, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands $1 https://orcid.org/0000000339253913
- 700 1_
- $a Penninx, Brenda W J H $u Department of Psychiatry, Amsterdam Public Health and Amsterdam Neuroscience, Amsterdam UMC/Vrije Universiteit and GGZ inGeest, Amsterdam, the Netherlands
- 700 1_
- $a Perola, Markus $u Finnish Institute for Health and Welfare, Helsinki, Finland $u Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland
- 700 1_
- $a Pirastu, Nicola $u Centre for Global Health, Usher Institute, University of Edinburgh, Teviot Place, Edinburgh, EH8 9AG, Scotland $u Biostatistics Unit - Population and Medical Genomics Programme, Genomics Research Centre, Human Technopole Palazzo Italia, Viale Rita Levi‐Montalcini, 1, 20157, Milan, Italy $1 https://orcid.org/0000000253633886
- 700 1_
- $a Polasek, Ozren $u University of Split Medical School, Split, Croatia $1 https://orcid.org/0000000257651862
- 700 1_
- $a Porteous, David J $u Centre for Genomic and Experimental Medicine, Institute of Genetics & Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK $1 https://orcid.org/0000000312496106
- 700 1_
- $a Poulain, Tanja $u LIFE Research Center for Civilization Diseases, University of Leipzig, Leipzig, Germany $u University Hospital for Children and Adolescents, Pediatric Research Unit, Medical Faculty, University Medical Center, University of Leipzig, Leipzig, Germany
- 700 1_
- $a Psaty, Bruce M $u Cardiovascular Health Research Unit, Department of Medicine, Department of Epidemiology, Department of Health Systems and Population Health, University of Washington, Seattle, WA, USA
- 700 1_
- $a Rabelink, Ton J $u Department of Internal Medicine, Section of Nephrology, Leiden University Medical Center, Leiden, the Netherlands $u Einthoven Laboratory of Experimental Vascular Research, Leiden University Medical Center, Leiden, the Netherlands $1 https://orcid.org/0000000167805186
- 700 1_
- $a Raffield, Laura M $u Department of Genetics, University of North Carolina, Chapel Hill, NC, USA $1 https://orcid.org/000000027892193X
- 700 1_
- $a Raitakari, Olli T $u Centre for Population Health Research, University of Turku and Turku University Hospital, Turku, Finland $u Department of Clinical Physiology and Nuclear Medicine, Turku University Hospital, Turku, Finland $u Research Center of Applied and Preventive Cardiovascular Medicine, University of Turku, Turku, Finland
- 700 1_
- $a Rasheed, Humaira $u K. G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health, Norwegian University of Science and Technology, Trondheim, Norway $u MRC Integrative Epidemiology Unit, Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK $u Division of Medicine and Laboratory Sciences, Faculty of Medicine, University of Oslo, Oslo, Norway $1 https://orcid.org/0000000233315864
- 700 1_
- $a Reilly, Dermot F $u Janssen Pharmaceuticals Inc., Titusville, NJ, 08560, USA $1 https://orcid.org/0000000294561364
- 700 1_
- $a Rice, Kenneth M $u Department of Biostatistics, University of Washington, Seattle, WA, USA $1 https://orcid.org/0000000230717278
- 700 1_
- $a Richmond, Anne $u Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK
- 700 1_
- $a Ridker, Paul M $u Division of Preventive Medicine, Brigham and Women's Hospital, Boston, MA, USA $u Harvard Medical School, Boston, MA, USA
- 700 1_
- $a Rotter, Jerome I $u The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA $1 https://orcid.org/0000000171911723
- 700 1_
- $a Rudan, Igor $u Centre for Global Health, Usher Institute, University of Edinburgh, Teviot Place, Edinburgh, EH8 9AG, Scotland $1 https://orcid.org/0000000169936884 $7 js20201091636
- 700 1_
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- 700 1_
- $a Salomaa, Veikko $u Finnish Institute for Health and Welfare, Helsinki, Finland $1 https://orcid.org/0000000175635324
- 700 1_
- $a Schneiderman, Neil $u Department of Psychology, University of Miami, Coral Gables, FL, USA
- 700 1_
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- 700 1_
- $a Sims, Mario $u Department of Social Medicine, Population and Public Health, University of California at Riverside School of Medicine, Riverside, CA, USA
- 700 1_
- $a Snieder, Harold $u Department of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands $1 https://orcid.org/0000000319492298
- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
- $a Sulem, Patrick $u deCODE Genetics/Amgen, Inc., Reykjavik, Iceland $1 https://orcid.org/0000000171236123
- 700 1_
- $a Sveinbjornsson, Gardar $u deCODE Genetics/Amgen, Inc., Reykjavik, Iceland
- 700 1_
- $a Svensson, Per O $u Department of Clinical Science and Education, Södersjukhuset, Karolinska Institutet, Stockholm, Sweden $u Department of Cardiology, Södersjukhuset, Stockholm, Sweden $1 https://orcid.org/0000000303726272
- 700 1_
- $a Tai, E-Shyong $u Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore $u Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore $u Duke-NUS Medical School, Singapore, Singapore $1 https://orcid.org/0000000329298966
- 700 1_
- $a Taylor, Kent D $u The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA $1 https://orcid.org/0000000227564370
- 700 1_
- $a Tayo, Bamidele O $u Department of Public Health Sciences, Loyola University Chicago, Maywood, IL, USA
- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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