Sökning: onr:"swepub:oai:DiVA.org:umu-61788" > New susceptibility ...
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000 | 08681naa a2201657 4500 | |
001 | oai:DiVA.org:umu-61788 | |
003 | SwePub | |
008 | 121126s2012 | |||||||||||000 ||eng| | |
009 | oai:lup.lub.lu.se:9c6c7f5b-618f-456a-b6ea-604c25bb3e92 | |
009 | oai:prod.swepub.kib.ki.se:125482534 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-617882 URI |
024 | 7 | a https://doi.org/10.1371/journal.pgen.10029212 DOI |
024 | 7 | a https://lup.lub.lu.se/record/32878202 URI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1254825342 URI |
040 | a (SwePub)umud (SwePub)lud (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Sandholm, Niina4 aut |
245 | 1 0 | a New susceptibility loci associated with kidney disease in type 1 diabetes |
264 | c 2012-09-20 | |
264 | 1 | a San Francisco, USA :b Public Library of Science, PLOS,c 2012 |
338 | a print2 rdacarrier | |
520 | a 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. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Hälsovetenskapx Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi0 (SwePub)303022 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Health Sciencesx Public Health, Global Health, Social Medicine and Epidemiology0 (SwePub)303022 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Endokrinologi och diabetes0 (SwePub)302052 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Endocrinology and Diabetes0 (SwePub)302052 hsv//eng |
653 | a GENOME-WIDE ASSOCIATION | |
653 | a RENAL-FUNCTION | |
653 | a NATURAL-HISTORY | |
653 | a COLLAGEN CHAINS | |
653 | a AF4/FMR2 FAMILY | |
653 | a GROWTH-FACTOR | |
653 | a NEPHROPATHY | |
653 | a EXPRESSION | |
653 | a RISK | |
653 | a GENE | |
653 | a genetik | |
653 | a Genetics | |
700 | 1 | a Salem, Rany M.4 aut |
700 | 1 | a McKnight, Amy Jayne4 aut |
700 | 1 | a Brennan, Eoin P.4 aut |
700 | 1 | a Forsblom, Carol4 aut |
700 | 1 | a Isakova, Tamara4 aut |
700 | 1 | a McKay, Gareth J.4 aut |
700 | 1 | a Williams, Winfred W.4 aut |
700 | 1 | a Sadlier, Denise M.4 aut |
700 | 1 | a Makinen, Ville-Petteri4 aut |
700 | 1 | a Swan, Elizabeth J.4 aut |
700 | 1 | a Palmer, Cameron4 aut |
700 | 1 | a Boright, Andrew P.4 aut |
700 | 1 | a Ahlqvist, Emmau Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups4 aut0 (Swepub:lu)infl-eah |
700 | 1 | a Deshmukh, Harshal A.4 aut |
700 | 1 | a Keller, Benjamin J.4 aut |
700 | 1 | a Huang, Huatengu Karolinska Institutet4 aut |
700 | 1 | a Ahola, Aila J.4 aut |
700 | 1 | a Fagerholm, Emma4 aut |
700 | 1 | a Gordin, Daniel4 aut |
700 | 1 | a Harjutsalo, Valma4 aut |
700 | 1 | a He, Bingu Karolinska Institutet4 aut |
700 | 1 | a Heikkila, Outi4 aut |
700 | 1 | a Hietala, Kustaa4 aut |
700 | 1 | a Kyto, Janne4 aut |
700 | 1 | a Lahermo, Paivi4 aut |
700 | 1 | a Lehto, Markku4 aut |
700 | 1 | a Lithovius, Raija4 aut |
700 | 1 | a Osterholm, Anne-Mayu Karolinska Institutet4 aut |
700 | 1 | a Parkkonen, Maija4 aut |
700 | 1 | a Pitkaniemi, Janne4 aut |
700 | 1 | a Rosengard-Barlund, Milla4 aut |
700 | 1 | a Saraheimo, Markku4 aut |
700 | 1 | a Sarti, Cinzia4 aut |
700 | 1 | a Soderlund, Jenny4 aut |
700 | 1 | a Soro-Paavonen, Aino4 aut |
700 | 1 | a Syreeni, Anna4 aut |
700 | 1 | a Thorn, Lena M.4 aut |
700 | 1 | a Tikkanen, Heikki4 aut |
700 | 1 | a Tolonen, Nina4 aut |
700 | 1 | a Tryggvason, Karlu Karolinska Institutet4 aut |
700 | 1 | a Tuomilehto, Jaakko4 aut |
700 | 1 | a Waden, Johan4 aut |
700 | 1 | a Gill, Geoffrey V.4 aut |
700 | 1 | a Prior, Sarah4 aut |
700 | 1 | a Guiducci, Candace4 aut |
700 | 1 | a Mirel, Daniel B.4 aut |
700 | 1 | a Taylor, Andrew4 aut |
700 | 1 | a Hosseini, S. Mohsen4 aut |
700 | 1 | a Parving, Hans-Henrik4 aut |
700 | 1 | a Rossing, Peter4 aut |
700 | 1 | a Tarnow, Lise4 aut |
700 | 1 | a Ladenvall, Claesu Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups4 aut0 (Swepub:lu)med-cll |
700 | 1 | a Alhenc-Gelas, Francois4 aut |
700 | 1 | a Lefebvre, Pierre4 aut |
700 | 1 | a Rigalleau, Vincent4 aut |
700 | 1 | a Roussel, Ronan4 aut |
700 | 1 | a Tregouet, David-Alexandre4 aut |
700 | 1 | a Maestroni, Anna4 aut |
700 | 1 | a Maestroni, Silvia4 aut |
700 | 1 | a Falhammar, Henrik4 aut |
700 | 1 | a Gu, Tianwei4 aut |
700 | 1 | a Mollsten, Annau Umeå universitet,Pediatrik4 aut0 (Swepub:umu)anmo0004 |
700 | 1 | a Cimponeriu, Danut4 aut |
700 | 1 | a Ioana, Mihai4 aut |
700 | 1 | a Mota, Maria4 aut |
700 | 1 | a Mota, Eugen4 aut |
700 | 1 | a Serafinceanu, Cristian4 aut |
700 | 1 | a Stavarachi, Monica4 aut |
700 | 1 | a Hanson, Robert L.4 aut |
700 | 1 | a Nelson, Robert G.4 aut |
700 | 1 | a Kretzler, Matthias4 aut |
700 | 1 | a Colhoun, Helen M.4 aut |
700 | 1 | a Panduru, Nicolae Mircea4 aut |
700 | 1 | a Gu, Harvest F.4 aut |
700 | 1 | a Brismar, Kerstinu Karolinska Institutet4 aut |
700 | 1 | a Zerbini, Gianpaolo4 aut |
700 | 1 | a Hadjadj, Samy4 aut |
700 | 1 | a Marre, Michel4 aut |
700 | 1 | a Groop, Leifu Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups4 aut0 (Swepub:lu)endo-lgr |
700 | 1 | a Lajer, Maria4 aut |
700 | 1 | a Bull, Shelley B.4 aut |
700 | 1 | a Waggott, Daryl4 aut |
700 | 1 | a Paterson, Andrew D.4 aut |
700 | 1 | a Savage, David A.4 aut |
700 | 1 | a Bain, Stephen C.4 aut |
700 | 1 | a Martin, Finian4 aut |
700 | 1 | a Hirschhorn, Joel N.4 aut |
700 | 1 | a Godson, Catherine4 aut |
700 | 1 | a Florez, Jose C.4 aut |
700 | 1 | a Groop, Per-Henrik4 aut |
700 | 1 | a Maxwell, Alexander P.4 aut |
710 | 2 | a Genomik, diabetes och endokrinologib Forskargrupper vid Lunds universitet4 org |
773 | 0 | t PLOS Geneticsd San Francisco, USA : Public Library of Science, PLOSg 8:9, s. e1002921-q 8:9<e1002921-x 1553-7390x 1553-7404 |
856 | 4 | u https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1002921&type=printable |
856 | 4 | u https://portal.research.lu.se/files/2158138/3460726.pdfx primaryx freey FULLTEXT |
856 | 4 | u http://dx.doi.org/10.1371/journal.pgen.1002921x freey FULLTEXT |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-61788 |
856 | 4 8 | u https://doi.org/10.1371/journal.pgen.1002921 |
856 | 4 8 | u https://lup.lub.lu.se/record/3287820 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:125482534 |
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