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Search: onr:"swepub:oai:lup.lub.lu.se:91eb011c-d9bd-48d6-809b-e1ae5024a452" > A novel rare CUBN v...

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  • Ahluwalia, Tarunveer S.Herlev Hospital,University of Copenhagen,Steno Diabetes Center Copenhagen (author)

A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes : results from an exome-wide association study of albuminuria

  • Article/chapterEnglish2019

Publisher, publication year, extent ...

  • 2018-12-13
  • Springer Science and Business Media LLC,2019

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  • LIBRIS-ID:oai:lup.lub.lu.se:91eb011c-d9bd-48d6-809b-e1ae5024a452
  • https://lup.lub.lu.se/record/91eb011c-d9bd-48d6-809b-e1ae5024a452URI
  • https://doi.org/10.1007/s00125-018-4783-zDOI

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  • Language:English
  • Summary in:English

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

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  • Aims/hypothesis: Identifying rare coding variants associated with albuminuria may open new avenues for preventing chronic kidney disease and end-stage renal disease, which are highly prevalent in individuals with diabetes. Efforts to identify genetic susceptibility variants for albuminuria have so far been limited, with the majority of studies focusing on common variants. Methods: We performed an exome-wide association study to identify coding variants in a two-stage (discovery and replication) approach. Data from 33,985 individuals of European ancestry (15,872 with and 18,113 without diabetes) and 2605 Greenlanders were included. Results: We identified a rare (minor allele frequency [MAF]: 0.8%) missense (A1690V) variant in CUBN (rs141640975, β = 0.27, p = 1.3 × 10−11) associated with albuminuria as a continuous measure in the combined European meta-analysis. The presence of each rare allele of the variant was associated with a 6.4% increase in albuminuria. The rare CUBN variant had an effect that was three times stronger in individuals with type 2 diabetes compared with those without (pinteraction = 7.0 × 10−4, β with diabetes = 0.69, β without diabetes = 0.20) in the discovery meta-analysis. Gene-aggregate tests based on rare and common variants identified three additional genes associated with albuminuria (HES1, CDC73 and GRM5) after multiple testing correction (pBonferroni < 2.7 × 10−6). Conclusions/interpretation: The current study identifies a rare coding variant in the CUBN locus and other potential genes associated with albuminuria in individuals with and without diabetes. These genes have been implicated in renal and cardiovascular dysfunction. The findings provide new insights into the genetic architecture of albuminuria and highlight target genes and pathways for the prevention of diabetes-related kidney disease.

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  • Schulz, Christina AlexandraLund University,Lunds universitet,Diabetes - kardiovaskulär sjukdom,Forskargrupper vid Lunds universitet,Diabetes - Cardiovascular Disease,Lund University Research Groups(Swepub:lu)med-csc (author)
  • Waage, JohannesHerlev Hospital,University of Copenhagen (author)
  • Skaaby, TeaFrederiksberg Hospital (author)
  • Sandholm, NiinaHelsinki University Central Hospital,Folkhälsan Research Center,University of Helsinki (author)
  • van Zuydam, NatalieUniversity of Oxford (author)
  • Charmet, RomainParis-Sorbonne University (author)
  • Bork-Jensen, JetteUniversity of Copenhagen (author)
  • Almgren, PeterLund University,Lunds universitet,Diabetes - kardiovaskulär sjukdom,Forskargrupper vid Lunds universitet,Diabetes - Cardiovascular Disease,Lund University Research Groups(Swepub:lu)endo-pal (author)
  • Thuesen, Betina H.Frederiksberg Hospital (author)
  • Bedin, MathildaParis Descartes University (author)
  • Brandslund, IvanLillebaelt Hospital (author)
  • Christensen, Cramer K.Lillebaelt Hospital (author)
  • Linneberg, AllanFrederiksberg Hospital (author)
  • Ahlqvist, EmmaLund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups(Swepub:lu)infl-eah (author)
  • Groop, Per HenrikHelsinki University Central Hospital,Folkhälsan Research Center,Monash University,University of Helsinki (author)
  • Hadjadj, SamyNantes University Hospital (author)
  • Tregouet, David AlexandreParis-Sorbonne University (author)
  • Jørgensen, Marit E.University of Southern Denmark,Steno Diabetes Center Copenhagen (author)
  • Grarup, NielsUniversity of Copenhagen (author)
  • Pedersen, OlufUniversity of Copenhagen (author)
  • Simons, MatiasParis Descartes University (author)
  • Groop, LeifLund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Institute for Molecular Medicine Finland (FIMM),University of Helsinki(Swepub:lu)endo-lgr (author)
  • Orho-Melander, MarjuLund University,Lunds universitet,Diabetes - kardiovaskulär sjukdom,Forskargrupper vid Lunds universitet,Diabetes - Cardiovascular Disease,Lund University Research Groups(Swepub:lu)endo-mor (author)
  • McCarthy, Mark I.University of Oxford (author)
  • Melander, OlleLund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups(Swepub:lu)endo-ome (author)
  • Rossing, PeterSteno Diabetes Center Copenhagen,University of Copenhagen (author)
  • Kilpeläinen, Tuomas O.University of Copenhagen (author)
  • Hansen, TorbenUniversity of Copenhagen,University of Southern Denmark (author)
  • Herlev HospitalUniversity of Copenhagen (creator_code:org_t)

Related titles

  • In:Diabetologia: Springer Science and Business Media LLC62:2, s. 292-3050012-186X1432-0428

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