Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies

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Fältnamn	Indikatorer	Metadata
000		06753naa a2201297 4500
001		oai:DiVA.org:uu-372078
003		SwePub
008		190104s2019 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:DiVA.org:du-29255
009		oai:prod.swepub.kib.ki.se:139952955
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3720782 URI
024	7	a https://doi.org/10.1038/s41467-018-07867-72 DOI
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:du-292552 URI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1399529552 URI
040		a (SwePub)uud (SwePub)dud (SwePub)ki
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Morris, Andrew P4 aut
245	1 0	a Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies
264		c 2019-01-03
264	1	b Springer Science and Business Media LLC,c 2019
338		a electronic2 rdacarrier
520		a Chronic kidney disease (CKD) affects ~10% of the global population, with considerable ethnic differences in prevalence and aetiology. We assemble genome-wide association studies of estimated glomerular filtration rate (eGFR), a measure of kidney function that defines CKD, in 312,468 individuals of diverse ancestry. We identify 127 distinct association signals with homogeneous effects on eGFR across ancestries and enrichment in genomic annotations including kidney-specific histone modifications. Fine-mapping reveals 40 high-confidence variants driving eGFR associations and highlights putative causal genes with cell-type specific expression in glomerulus, and in proximal and distal nephron. Mendelian randomisation supports causal effects of eGFR on overall and cause-specific CKD, kidney stone formation, diastolic blood pressure and hypertension. These results define novel molecular mechanisms and putative causal genes for eGFR, offering insight into clinical outcomes and routes to CKD treatment development.
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 medicin0 (SwePub)3022 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicine0 (SwePub)3022 hsv//eng
653		a Hälsa och välfärd
700	1	a Le, Thu H4 aut
700	1	a Wu, Haojia4 aut
700	1	a Akbarov, Artur4 aut
700	1	a van der Most, Peter J4 aut
700	1	a Hemani, Gibran4 aut
700	1	a Smith, George Davey4 aut
700	1	a Mahajan, Anubha4 aut
700	1	a Gaulton, Kyle J4 aut
700	1	a Nadkarni, Girish N4 aut
700	1	a Valladares-Salgado, Adan4 aut
700	1	a Wacher-Rodarte, Niels4 aut
700	1	a Mychaleckyj, Josyf C4 aut
700	1	a Dueker, Nicole D4 aut
700	1	a Guo, Xiuqing4 aut
700	1	a Hai, Yang4 aut
700	1	a Haessler, Jeffrey4 aut
700	1	a Kamatani, Yoichiro4 aut
700	1	a Stilp, Adrienne M4 aut
700	1	a Zhu, Gu4 aut
700	1	a Cook, James P4 aut
700	1	a Ärnlöv, Johanu Karolinska Institutet,Högskolan Dalarna,Uppsala universitet,Centrum för klinisk forskning Dalarna,Medicinsk vetenskap4 aut0 (Swepub:du)jan
700	1	a Blanton, Susan H4 aut
700	1	a de Borst, Martin H4 aut
700	1	a Bottinger, Erwin P4 aut
700	1	a Buchanan, Thomas A4 aut
700	1	a Cechova, Sylvia4 aut
700	1	a Charchar, Fadi J4 aut
700	1	a Chu, Pei-Lun4 aut
700	1	a Damman, Jeffrey4 aut
700	1	a Eales, James4 aut
700	1	a Gharavi, Ali G4 aut
700	1	a Giedraitis, Vilmantasu Uppsala universitet,Geriatrik4 aut0 (Swepub:uu)vigie517
700	1	a Heath, Andrew C4 aut
700	1	a Ipp, Eli4 aut
700	1	a Kiryluk, Krzysztof4 aut
700	1	a Kramer, Holly J4 aut
700	1	a Kubo, Michiaki4 aut
700	1	a Larsson, Andersu Uppsala universitet,Klinisk kemi4 aut0 (Swepub:uu)andlarss
700	1	a Lindgren, Cecilia M4 aut
700	1	a Lu, Yingchang4 aut
700	1	a Madden, Pamela A F4 aut
700	1	a Montgomery, Grant W4 aut
700	1	a Papanicolaou, George J4 aut
700	1	a Raffel, Leslie J4 aut
700	1	a Sacco, Ralph L4 aut
700	1	a Sanchez, Elena4 aut
700	1	a Stark, Holger4 aut
700	1	a Sundström, Johan,c Professor,d 1971-u Uppsala universitet,Molekylär epidemiologi4 aut0 (Swepub:uu)johasund
700	1	a Taylor, Kent D4 aut
700	1	a Xiang, Anny H4 aut
700	1	a Zivkovic, Aleksandra4 aut
700	1	a Lind, Larsu Uppsala universitet,Klinisk epidemiologi4 aut0 (Swepub:uu)larslind
700	1	a Ingelsson, Erik,d 1975-u Uppsala universitet,Molekylär epidemiologi,Science for Life Laboratory, SciLifeLab,Stanford Univ, Dept Med, Div Cardiovasc Med, Sch Med, Stanford, Stanford Univ, Stanford Cardiovasc Inst, Stanford, USA; Stanford Univ, Stanford Diabet Res Ctr, Stanford, USA4 aut0 (Swepub:uu)ering425
700	1	a Martin, Nicholas G4 aut
700	1	a Whitfield, John B4 aut
700	1	a Cai, Jianwen4 aut
700	1	a Laurie, Cathy C4 aut
700	1	a Okada, Yukinori4 aut
700	1	a Matsuda, Koichi4 aut
700	1	a Kooperberg, Charles4 aut
700	1	a Chen, Yii-Der Ida4 aut
700	1	a Rundek, Tatjana4 aut
700	1	a Rich, Stephen S4 aut
700	1	a Loos, Ruth J F4 aut
700	1	a Parra, Esteban J4 aut
700	1	a Cruz, Miguel4 aut
700	1	a Rotter, Jerome I4 aut
700	1	a Snieder, Harold4 aut
700	1	a Tomaszewski, Maciej4 aut
700	1	a Humphreys, Benjamin D4 aut
700	1	a Franceschini, Nora4 aut
710	2	a Uppsala universitetb Centrum för klinisk forskning Dalarna4 org
773	0	t Nature Communicationsd : Springer Science and Business Media LLCg 10:1q 10:1x 2041-1723
856	4	u https://uu.diva-portal.org/smash/get/diva2:1275304/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
856	4	u https://www.nature.com/articles/s41467-018-07867-7.pdf
856	4	u https://doi.org/10.1038/s41467-018-07867-7y Fulltext
856	4	u https://du.diva-portal.org/smash/get/diva2:1275697/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-372078
856	4 8	u https://doi.org/10.1038/s41467-018-07867-7
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:du-29255
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:139952955

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Av författaren/redakt...: Morris, Andrew P; Le, Thu H; Wu, Haojia; Akbarov, Artur; van der Most, Pe ...; Hemani, Gibran; visa fler...; Smith, George Da ...; Mahajan, Anubha; Gaulton, Kyle J; Nadkarni, Girish ...; Valladares-Salga ...; Wacher-Rodarte, ...; Mychaleckyj, Jos ...; Dueker, Nicole D; Guo, Xiuqing; Hai, Yang; Haessler, Jeffre ...; Kamatani, Yoichi ...; Stilp, Adrienne ...; Zhu, Gu; Cook, James P; Ärnlöv, Johan; Blanton, Susan H; de Borst, Martin ...; Bottinger, Erwin ...; Buchanan, Thomas ...; Cechova, Sylvia; Charchar, Fadi J; Chu, Pei-Lun; Damman, Jeffrey; Eales, James; Gharavi, Ali G; Giedraitis, Vilm ...; Heath, Andrew C; Ipp, Eli; Kiryluk, Krzyszt ...; Kramer, Holly J; Kubo, Michiaki; Larsson, Anders; Lindgren, Cecili ...; Lu, Yingchang; Madden, Pamela A ...; Montgomery, Gran ...; Papanicolaou, Ge ...; Raffel, Leslie J; Sacco, Ralph L; Sanchez, Elena; Stark, Holger; Sundström, Johan ...; Taylor, Kent D; Xiang, Anny H; Zivkovic, Aleksa ...; Lind, Lars; Ingelsson, Erik, ...; Martin, Nicholas ...; Whitfield, John ...; Cai, Jianwen; Laurie, Cathy C; Okada, Yukinori; Matsuda, Koichi; Kooperberg, Char ...; Chen, Yii-Der Id ...; Rundek, Tatjana; Rich, Stephen S; Loos, Ruth J F; Parra, Esteban J; Cruz, Miguel; Rotter, Jerome I; Snieder, Harold; Tomaszewski, Mac ...; Humphreys, Benja ...; Franceschini, No ...; visa färre...

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Av lärosätet: Uppsala universitet; Högskolan Dalarna; Karolinska Institutet

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