New susceptibility loci associated with kidney disease in type 1 diabetes

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Fältnamn	Indikatorer	Metadata
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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Av författaren/redakt...: Sandholm, Niina; Salem, Rany M.; McKnight, Amy Ja ...; Brennan, Eoin P.; Forsblom, Carol; Isakova, Tamara; visa fler...; McKay, Gareth J.; Williams, Winfre ...; Sadlier, Denise ...; Makinen, Ville-P ...; Swan, Elizabeth ...; Palmer, Cameron; Boright, Andrew ...; Ahlqvist, Emma; Deshmukh, Harsha ...; Keller, Benjamin ...; Huang, Huateng; Ahola, Aila J.; Fagerholm, Emma; Gordin, Daniel; Harjutsalo, Valm ...; He, Bing; Heikkila, Outi; Hietala, Kustaa; Kyto, Janne; Lahermo, Paivi; Lehto, Markku; Lithovius, Raija; Osterholm, Anne- ...; Parkkonen, Maija; Pitkaniemi, Jann ...; Rosengard-Barlun ...; Saraheimo, Markk ...; Sarti, Cinzia; Soderlund, Jenny; Soro-Paavonen, A ...; Syreeni, Anna; Thorn, Lena M.; Tikkanen, Heikki; Tolonen, Nina; Tryggvason, Karl; Tuomilehto, Jaak ...; Waden, Johan; Gill, Geoffrey V ...; Prior, Sarah; Guiducci, Candac ...; Mirel, Daniel B.; Taylor, Andrew; Hosseini, S. Moh ...; Parving, Hans-He ...; Rossing, Peter; Tarnow, Lise; Ladenvall, Claes; Alhenc-Gelas, Fr ...; Lefebvre, Pierre; Rigalleau, Vince ...; Roussel, Ronan; Tregouet, David- ...; Maestroni, Anna; Maestroni, Silvi ...; Falhammar, Henri ...; Gu, Tianwei; Mollsten, Anna; Cimponeriu, Danu ...; Ioana, Mihai; Mota, Maria; Mota, Eugen; Serafinceanu, Cr ...; Stavarachi, Moni ...; Hanson, Robert L ...; Nelson, Robert G ...; Kretzler, Matthi ...; Colhoun, Helen M ...; Panduru, Nicolae ...; Gu, Harvest F.; Brismar, Kerstin; Zerbini, Gianpao ...; Hadjadj, Samy; Marre, Michel; Groop, Leif; Lajer, Maria; Bull, Shelley B.; Waggott, Daryl; Paterson, Andrew ...; Savage, David A.; Bain, Stephen C.; Martin, Finian; Hirschhorn, Joel ...; Godson, Catherin ...; Florez, Jose C.; Groop, Per-Henri ...; Maxwell, Alexand ...; visa färre...

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