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New susceptibility ...
New susceptibility loci associated with kidney disease in type 1 diabetes
- Article/chapterEnglish2012
Publisher, publication year, extent ...
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2012-09-20
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San Francisco, USA :Public Library of Science, PLOS,2012
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:umu-61788
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https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-61788URI
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https://doi.org/10.1371/journal.pgen.1002921DOI
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https://lup.lub.lu.se/record/3287820URI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:125482534URI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Diabetic kidney disease, or diabetic nephropathy (DN), is a major complication of diabetes and the leading cause of end-stage renal disease (ESRD) that requires dialysis treatment or kidney transplantation. In addition to the decrease in the quality of life, DN accounts for a large proportion of the excess mortality associated with type 1 diabetes (T1D). Whereas the degree of glycemia plays a pivotal role in DN, a subset of individuals with poorly controlled T1D do not develop DN. Furthermore, strong familial aggregation supports genetic susceptibility to DN. However, the genes and the molecular mechanisms behind the disease remain poorly understood, and current therapeutic strategies rarely result in reversal of DN. In the GEnetics of Nephropathy: an International Effort (GENIE) consortium, we have undertaken a meta-analysis of genomewide association studies (GWAS) of T1D DN comprising similar to 2.4 million single nucleotide polymorphisms (SNPs) imputed in 6,691 individuals. After additional genotyping of 41 top ranked SNPs representing 24 independent signals in 5,873 individuals, combined meta-analysis revealed association of two SNPs with ESRD: rs7583877 in the AFF3 gene (P = 1.2 x 10(-8)) and an intergenic SNP on chromosome 15q26 between the genes RGMA and MCTP2, rs12437854 (P = 2.0 x 10(-9)). Functional data suggest that AFF3 influences renal tubule fibrosis via the transforming growth factor-beta (TGF-beta 1) pathway. The strongest association with DN as a primary phenotype was seen for an intronic SNP in the ERBB4 gene (rs7588550, P = 2.1 x 10(-7)), a gene with type 2 diabetes DN differential expression and in the same intron as a variant with cis-eQTL expression of ERBB4. All these detected associations represent new signals in the pathogenesis of DN.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Salem, Rany M.
(author)
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McKnight, Amy Jayne
(author)
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Brennan, Eoin P.
(author)
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Forsblom, Carol
(author)
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Isakova, Tamara
(author)
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McKay, Gareth J.
(author)
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Williams, Winfred W.
(author)
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Sadlier, Denise M.
(author)
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Makinen, Ville-Petteri
(author)
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Swan, Elizabeth J.
(author)
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Palmer, Cameron
(author)
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Boright, Andrew P.
(author)
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Ahlqvist, EmmaLund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups(Swepub:lu)infl-eah
(author)
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Deshmukh, Harshal A.
(author)
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Keller, Benjamin J.
(author)
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Huang, HuatengKarolinska Institutet
(author)
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Ahola, Aila J.
(author)
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Fagerholm, Emma
(author)
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Gordin, Daniel
(author)
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Harjutsalo, Valma
(author)
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He, BingKarolinska Institutet
(author)
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Heikkila, Outi
(author)
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Hietala, Kustaa
(author)
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Kyto, Janne
(author)
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Lahermo, Paivi
(author)
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Lehto, Markku
(author)
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Lithovius, Raija
(author)
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Osterholm, Anne-MayKarolinska Institutet
(author)
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Parkkonen, Maija
(author)
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Pitkaniemi, Janne
(author)
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Rosengard-Barlund, Milla
(author)
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Saraheimo, Markku
(author)
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Sarti, Cinzia
(author)
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Soderlund, Jenny
(author)
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Soro-Paavonen, Aino
(author)
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Syreeni, Anna
(author)
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Thorn, Lena M.
(author)
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Tikkanen, Heikki
(author)
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Tolonen, Nina
(author)
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Tryggvason, KarlKarolinska Institutet
(author)
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Tuomilehto, Jaakko
(author)
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Waden, Johan
(author)
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Gill, Geoffrey V.
(author)
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Prior, Sarah
(author)
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Guiducci, Candace
(author)
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Mirel, Daniel B.
(author)
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Taylor, Andrew
(author)
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Hosseini, S. Mohsen
(author)
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Parving, Hans-Henrik
(author)
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Rossing, Peter
(author)
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Tarnow, Lise
(author)
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Ladenvall, ClaesLund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups(Swepub:lu)med-cll
(author)
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Alhenc-Gelas, Francois
(author)
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Lefebvre, Pierre
(author)
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Rigalleau, Vincent
(author)
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Roussel, Ronan
(author)
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Tregouet, David-Alexandre
(author)
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Maestroni, Anna
(author)
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Maestroni, Silvia
(author)
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Falhammar, Henrik
(author)
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Gu, Tianwei
(author)
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Mollsten, AnnaUmeå universitet,Pediatrik(Swepub:umu)anmo0004
(author)
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Cimponeriu, Danut
(author)
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Ioana, Mihai
(author)
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Mota, Maria
(author)
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Mota, Eugen
(author)
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Serafinceanu, Cristian
(author)
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Stavarachi, Monica
(author)
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Hanson, Robert L.
(author)
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Nelson, Robert G.
(author)
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Kretzler, Matthias
(author)
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Colhoun, Helen M.
(author)
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Panduru, Nicolae Mircea
(author)
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Gu, Harvest F.
(author)
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Brismar, KerstinKarolinska Institutet
(author)
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Zerbini, Gianpaolo
(author)
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Hadjadj, Samy
(author)
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Marre, Michel
(author)
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Groop, LeifLund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups(Swepub:lu)endo-lgr
(author)
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Lajer, Maria
(author)
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Bull, Shelley B.
(author)
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Waggott, Daryl
(author)
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Paterson, Andrew D.
(author)
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Savage, David A.
(author)
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Bain, Stephen C.
(author)
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Martin, Finian
(author)
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Hirschhorn, Joel N.
(author)
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Godson, Catherine
(author)
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Florez, Jose C.
(author)
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Groop, Per-Henrik
(author)
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Maxwell, Alexander P.
(author)
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Genomik, diabetes och endokrinologiForskargrupper vid Lunds universitet
(creator_code:org_t)
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In:PLOS GeneticsSan Francisco, USA : Public Library of Science, PLOS8:9, s. e1002921-1553-73901553-7404
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- By the author/editor
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Sandholm, Niina
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Salem, Rany M.
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McKnight, Amy Ja ...
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Brennan, Eoin P.
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Forsblom, Carol
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Isakova, Tamara
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show more...
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McKay, Gareth J.
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Williams, Winfre ...
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Sadlier, Denise ...
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Makinen, Ville-P ...
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Swan, Elizabeth ...
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Palmer, Cameron
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Boright, Andrew ...
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Ahlqvist, Emma
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Deshmukh, Harsha ...
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Keller, Benjamin ...
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Huang, Huateng
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Ahola, Aila J.
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Fagerholm, Emma
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Gordin, Daniel
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Harjutsalo, Valm ...
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He, Bing
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Heikkila, Outi
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Hietala, Kustaa
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Kyto, Janne
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Lahermo, Paivi
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Lehto, Markku
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Lithovius, Raija
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Osterholm, Anne- ...
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Parkkonen, Maija
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Pitkaniemi, Jann ...
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Rosengard-Barlun ...
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Saraheimo, Markk ...
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Sarti, Cinzia
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Soderlund, Jenny
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Soro-Paavonen, A ...
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Syreeni, Anna
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Thorn, Lena M.
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Tikkanen, Heikki
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Tolonen, Nina
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Tryggvason, Karl
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Tuomilehto, Jaak ...
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Waden, Johan
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Gill, Geoffrey V ...
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Prior, Sarah
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Guiducci, Candac ...
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Mirel, Daniel B.
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Taylor, Andrew
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Hosseini, S. Moh ...
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Parving, Hans-He ...
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Rossing, Peter
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Tarnow, Lise
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Ladenvall, Claes
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Alhenc-Gelas, Fr ...
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Lefebvre, Pierre
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Rigalleau, Vince ...
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Roussel, Ronan
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Tregouet, David- ...
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Maestroni, Anna
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Maestroni, Silvi ...
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Falhammar, Henri ...
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Gu, Tianwei
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Mollsten, Anna
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Cimponeriu, Danu ...
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Ioana, Mihai
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Mota, Maria
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Mota, Eugen
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Serafinceanu, Cr ...
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Stavarachi, Moni ...
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Hanson, Robert L ...
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Nelson, Robert G ...
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Kretzler, Matthi ...
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Colhoun, Helen M ...
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Panduru, Nicolae ...
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Gu, Harvest F.
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Brismar, Kerstin
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Zerbini, Gianpao ...
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Hadjadj, Samy
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Marre, Michel
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Groop, Leif
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Lajer, Maria
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Bull, Shelley B.
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Waggott, Daryl
-
Paterson, Andrew ...
-
Savage, David A.
-
Bain, Stephen C.
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Martin, Finian
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Hirschhorn, Joel ...
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Godson, Catherin ...
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Florez, Jose C.
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Groop, Per-Henri ...
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Maxwell, Alexand ...
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PLOS Genetics
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Umeå University
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Karolinska Institutet