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The genetic landsca...
The genetic landscape of renal complications in type 1 diabetes
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- Sandholm, Niina (author)
- Folkhälsan Research Center,Helsinki University of Technology
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- Van Zuydam, Natalie (author)
- University of Oxford,Ninewells Hospital and Medical School,Wellcome Trust Centre for Human Genetics
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- Ahlqvist, Emma (author)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital
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- Juliusdottir, Thorhildur (author)
- Wellcome Trust Centre for Human Genetics
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- Deshmukh, Harshal A. (author)
- Ninewells Hospital and Medical School
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- Rayner, N. William (author)
- University of Oxford,Wellcome Trust Centre for Human Genetics,Wellcome Trust Sanger Institute
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- Di Camillo, Barbara (author)
- University of Padova
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- Forsblom, Carol (author)
- Helsinki University of Technology,Folkhälsan Research Center
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- Fadista, Joao (author)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital
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- Ziemek, Daniel (author)
- Pfizer Inc. US
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- Salem, Rany M. (author)
- Boston Children's Hospital,Harvard Medical School,Massachusetts Institute of Technology
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- Hiraki, Linda T. (author)
- Hospital for Sick Children, Toronto
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- Pezzolesi, Marcus (author)
- Joslin Diabetes Center
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- Trégouët, David (author)
- Institut Gustave Roussy
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- Dahlström, Emma (author)
- Folkhälsan Research Center,Helsinki University of Technology
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- Valo, Erkka (author)
- Folkhälsan Research Center,Helsinki University of Technology
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- Oskolkov, Nikolay (author)
- Lund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Department of Clinical Sciences, Malmö,Faculty of Medicine,Skåne University Hospital
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- Ladenvall, Claes (author)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital
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- Marcovecchio, M. Loredana (author)
- University of Cambridge
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- Cooper, Jason (author)
- University of Cambridge
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- Sambo, Francesco (author)
- University of Padova
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- Malovini, Alberto (author)
- Istituti Clinici Scientifici Maugeri,University of Pavia
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- Manfrini, Marco (author)
- University of Padova
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- McKnight, Amy Jayne (author)
- Queen's University Belfast
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- Lajer, Maria (author)
- Steno Diabetes Center Copenhagen
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- Harjutsalo, Valma (author)
- Helsinki University of Technology,Finnish National Institute for Health and Welfare,Folkhälsan Research Center
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- Gordin, Daniel (author)
- Folkhälsan Research Center,Helsinki University of Technology
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- Parkkonen, Maija (author)
- Folkhälsan Research Center,Helsinki University of Technology
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- Tuomilehto, Jaakko (author)
- King Abdulaziz University,Finnish National Institute for Health and Welfare,Danube University Krems,Dasman Diabetes Institute
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- Lyssenko, Valeriya (author)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Steno Diabetes Center Copenhagen,Skåne University Hospital
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- McKeigue, Paul M. (author)
- University of Edinburgh
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- Rich, Stephen S. (author)
- University of Virginia School of Medicine
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- Brosnan, Mary Julia (author)
- Pfizer Inc. US
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- Fauman, Eric (author)
- Pfizer Inc. US
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- Bellazzi, Riccardo (author)
- University of Pavia
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- Rossing, Peter (author)
- University of Copenhagen,Steno Diabetes Center Copenhagen,Aarhus University
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- Hadjadj, Samy (author)
- Poitiers University Hospital,Poitiers University,Institut Gustave Roussy
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- Krolewski, Andrzej (author)
- Joslin Diabetes Center
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- Paterson, Andrew D. (author)
- Hospital for Sick Children, Toronto
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- Florez, Jose C. (author)
- Massachusetts General Hospital,Broad Institute
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- Hirschhorn, Joel N. (author)
- Harvard Medical School,Boston Children's Hospital,Massachusetts Institute of Technology
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- Maxwell, Alexander P. (author)
- Belfast City Hospital
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- Dunger, David (author)
- University of Cambridge
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- Cobelli, Claudio (author)
- University of Padova
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- Colhoun, Helen M. (author)
- Ninewells Hospital and Medical School
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- Groop, Leif (author)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital
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- McCarthy, Mark I. (author)
- Wellcome Trust Centre for Human Genetics,University of Oxford
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- Groop, Per Henrik (author)
- Helsinki University of Technology,Folkhälsan Research Center,Baker IDI Heart and Diabetes Institute
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(creator_code:org_t)
- 2017
- 2017
- English 18 s.
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In: Journal of the American Society of Nephrology. - 1046-6673. ; 28:2, s. 557-574
- Related links:
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http://dx.doi.org/10... (free)
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
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- Diabetes is the leading cause of ESRD. Despite evidence for a substantial heritability of diabetic kidney disease, efforts to identify genetic susceptibility variants have had limited success. We extended previous efforts in three dimensions, examining a more comprehensive set of genetic variants in larger numbers of subjects with type 1 diabetes characterized for a wider range of cross-sectional diabetic kidney disease phenotypes. In 2843 subjects, we estimated that the heritability of diabetic kidney disease was 35% (P=6.4310-3). Genome-wide association analysis and replication in 12,540 individuals identified no single variants reaching stringent levels of significance and, despite excellent power, provided little independent confirmation of previously published associatedvariants.Whole-exome sequencing in 997 subjects failed to identify any large-effect coding alleles of lower frequency influencing the risk of diabetic kidney disease. However, sets of alleles increasing body mass index (P=2.2310-5) and the risk of type 2 diabetes (P=6.1310-4) associated with the risk of diabetic kidney disease.Wealso found genome-wide genetic correlation between diabetic kidney disease and failure at smoking cessation (P=1.1310-4). Pathway analysis implicated ascorbate and aldarate metabolism (P=9.0310-6), and pentose and glucuronate interconversions (P=3.0310-6) in pathogenesis of diabetic kidney disease. These data provide further evidence for the role of genetic factors influencing diabetic kidney disease in those with type 1 diabetes and highlight some key pathways that may be responsible. Altogether these results reveal important biology behind the major cause of kidney disease.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Sandholm, Niina
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Van Zuydam, Nata ...
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Ahlqvist, Emma
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Juliusdottir, Th ...
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Deshmukh, Harsha ...
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Rayner, N. Willi ...
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show more...
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Di Camillo, Barb ...
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Forsblom, Carol
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Fadista, Joao
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Ziemek, Daniel
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Salem, Rany M.
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Hiraki, Linda T.
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Pezzolesi, Marcu ...
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Trégouët, David
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Dahlström, Emma
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Valo, Erkka
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Oskolkov, Nikola ...
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Ladenvall, Claes
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Marcovecchio, M. ...
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Cooper, Jason
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Sambo, Francesco
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Malovini, Albert ...
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Manfrini, Marco
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McKnight, Amy Ja ...
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Lajer, Maria
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Harjutsalo, Valm ...
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Gordin, Daniel
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Parkkonen, Maija
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Tuomilehto, Jaak ...
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Lyssenko, Valeri ...
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McKeigue, Paul M ...
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Rich, Stephen S.
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Brosnan, Mary Ju ...
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Fauman, Eric
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Bellazzi, Riccar ...
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Rossing, Peter
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Hadjadj, Samy
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Krolewski, Andrz ...
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Paterson, Andrew ...
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Florez, Jose C.
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Hirschhorn, Joel ...
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Maxwell, Alexand ...
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Dunger, David
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Cobelli, Claudio
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Colhoun, Helen M ...
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Groop, Leif
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McCarthy, Mark I ...
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Groop, Per Henri ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Endocrinology an ...
- Articles in the publication
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Journal of the A ...
- By the university
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Lund University