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  • Sandholm, NiinaFolkhälsan Research Center,Helsinki University of Technology (author)

The genetic landscape of renal complications in type 1 diabetes

  • Article/chapterEnglish2017

Publisher, publication year, extent ...

  • 2017
  • 18 s.

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:bc31c369-d619-4c8e-baef-a6302c5e25a5
  • https://lup.lub.lu.se/record/bc31c369-d619-4c8e-baef-a6302c5e25a5URI
  • https://doi.org/10.1681/ASN.2016020231DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • 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 and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Van Zuydam, NatalieWellcome Trust Centre for Human Genetics,Ninewells Hospital and Medical School,University of Oxford (author)
  • Ahlqvist, EmmaLund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital(Swepub:lu)infl-eah (author)
  • Juliusdottir, ThorhildurWellcome Trust Centre for Human Genetics (author)
  • Deshmukh, Harshal A.Ninewells Hospital and Medical School (author)
  • Rayner, N. WilliamUniversity of Oxford,Wellcome Trust Centre for Human Genetics,Wellcome Trust Sanger Institute (author)
  • Di Camillo, BarbaraUniversity of Padova (author)
  • Forsblom, CarolFolkhälsan Research Center,Helsinki University of Technology (author)
  • Fadista, JoaoLund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital(Swepub:lu)med-jft (author)
  • Ziemek, DanielPfizer Inc. US (author)
  • Salem, Rany M.Boston Children's Hospital,Harvard Medical School,Massachusetts Institute of Technology (author)
  • Hiraki, Linda T.Hospital for Sick Children, Toronto (author)
  • Pezzolesi, MarcusJoslin Diabetes Center (author)
  • Trégouët, DavidInstitut Gustave Roussy (author)
  • Dahlström, EmmaHelsinki University of Technology,Folkhälsan Research Center (author)
  • Valo, ErkkaFolkhälsan Research Center,Helsinki University of Technology (author)
  • Oskolkov, NikolayLund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Department of Clinical Sciences, Malmö,Faculty of Medicine,Skåne University Hospital(Swepub:lu)fkem-nyo (author)
  • Ladenvall, ClaesLund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital(Swepub:lu)med-cll (author)
  • Marcovecchio, M. LoredanaUniversity of Cambridge (author)
  • Cooper, JasonUniversity of Cambridge (author)
  • Sambo, FrancescoUniversity of Padova (author)
  • Malovini, AlbertoIstituti Clinici Scientifici Maugeri,University of Pavia (author)
  • Manfrini, MarcoUniversity of Padova (author)
  • McKnight, Amy JayneQueen's University Belfast (author)
  • Lajer, MariaSteno Diabetes Center Copenhagen (author)
  • Harjutsalo, ValmaFinnish National Institute for Health and Welfare,Folkhälsan Research Center,Helsinki University of Technology (author)
  • Gordin, DanielFolkhälsan Research Center,Helsinki University of Technology (author)
  • Parkkonen, MaijaFolkhälsan Research Center,Helsinki University of Technology (author)
  • Tuomilehto, JaakkoDanube University Krems,King Abdulaziz University,Dasman Diabetes Institute,Finnish National Institute for Health and Welfare (author)
  • Lyssenko, ValeriyaLund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Steno Diabetes Center Copenhagen,Skåne University Hospital(Swepub:lu)endo-vly (author)
  • McKeigue, Paul M.University of Edinburgh (author)
  • Rich, Stephen S.University of Virginia School of Medicine (author)
  • Brosnan, Mary JuliaPfizer Inc. US (author)
  • Fauman, EricPfizer Inc. US (author)
  • Bellazzi, RiccardoUniversity of Pavia (author)
  • Rossing, PeterUniversity of Copenhagen,Steno Diabetes Center Copenhagen,Aarhus University (author)
  • Hadjadj, SamyInstitut Gustave Roussy,Poitiers University,Poitiers University Hospital (author)
  • Krolewski, AndrzejJoslin Diabetes Center (author)
  • Paterson, Andrew D.Hospital for Sick Children, Toronto (author)
  • Florez, Jose C.Massachusetts General Hospital,Broad Institute (author)
  • Hirschhorn, Joel N.Massachusetts Institute of Technology,Harvard Medical School,Boston Children's Hospital (author)
  • Maxwell, Alexander P.Belfast City Hospital (author)
  • Dunger, DavidUniversity of Cambridge (author)
  • Cobelli, ClaudioUniversity of Padova (author)
  • Colhoun, Helen M.Ninewells Hospital and Medical School (author)
  • Groop, LeifLund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital(Swepub:lu)endo-lgr (author)
  • McCarthy, Mark I.University of Oxford,Wellcome Trust Centre for Human Genetics (author)
  • Groop, Per HenrikBaker IDI Heart and Diabetes Institute,Folkhälsan Research Center,Helsinki University of Technology (author)
  • Folkhälsan Research CenterHelsinki University of Technology (creator_code:org_t)

Related titles

  • In:Journal of the American Society of Nephrology28:2, s. 557-5741046-6673

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