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SOS2 and ACP1 Loci ...
SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function
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- Li, Man (author)
- University of Utah
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- Li, Yong (author)
- Albert-Ludwigs University Freiburg
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- Weeks, Olivia (author)
- Harvard Medical School
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- Mijatovic, Vladan (author)
- Harvard Medical School
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- Teumer, Alexander (author)
- Harvard Medical School
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- Huffman, Jennifer E (author)
- National Heart Lung and Blood Institute
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- Tromp, Gerard (author)
- Stellenbosch University
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- Fuchsberger, Christian (author)
- University of Lübeck
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- Gorski, Mathias (author)
- University of Regensburg
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- Lyytikäinen, Leo-Pekka (author)
- University of Tampere
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Nutile, Teresa (author)
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Sedaghat, Sanaz (author)
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Sorice, Rossella (author)
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Tin, Adrienne (author)
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Yang, Qiong (author)
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Ahluwalia, Tarunveer S (author)
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Arking, Dan E. (author)
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Bihlmeyer, Nathan A (author)
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Böger, Carsten A (author)
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Carroll, Robert J. (author)
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Chasman, Daniel I (author)
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Cornelis, Marilyn C. (author)
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Dehghan, Abbas (author)
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Faul, Jessica D (author)
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Feitosa, Mary F (author)
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Gambaro, Giovanni (author)
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Gasparini, Paolo (author)
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Giulianini, Franco (author)
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Heid, Iris (author)
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Huang, Jinyan (author)
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Imboden, Medea (author)
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Jackson, Anne U (author)
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Jeff, Janina (author)
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Jhun, Min A. (author)
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Katz, Ronit (author)
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Kifley, Annette (author)
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Kilpeläinen, Tuomas O (author)
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Kumar, Ashish (author)
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Laakso, Markku (author)
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Li-Gao, Ruifang (author)
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Lohman, Kurt (author)
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Lu, Yingchang (author)
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Mägi, Reedik (author)
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Malerba, Giovanni (author)
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Mihailov, Evelin (author)
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Mohlke, Karen L (author)
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Mook-Kanamori, Dennis O. (author)
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- Schulz, Christina-Alexandra (author)
- Lund University,Lunds universitet,Diabetes - kardiovaskulär sjukdom,Forskargrupper vid Lunds universitet,Diabetes - Cardiovascular Disease,Lund University Research Groups
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- Melander, Olle (author)
- Lund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups
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- Orho-Melander, Marju (author)
- Lund University,Lunds universitet,Diabetes - kardiovaskulär sjukdom,Forskargrupper vid Lunds universitet,Diabetes - Cardiovascular Disease,Lund University Research Groups
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(creator_code:org_t)
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- 2017
- 2017
- English 14 s.
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In: Journal of the American Society of Nephrology: JASN. - 1533-3450. ; 28:3, s. 981-994
- Related links:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Genome-wide association studies have identified >50 common variants associated with kidney function, but these variants do not fully explain the variation in eGFR. We performed a two-stage meta-analysis of associations between genotypes from the Illumina exome array and eGFR on the basis of serum creatinine (eGFRcrea) among participants of European ancestry from the CKDGen Consortium (nStage1: 111,666; nStage2: 48,343). In single-variant analyses, we identified single nucleotide polymorphisms at seven new loci associated with eGFRcrea (PPM1J, EDEM3, ACP1, SPEG, EYA4, CYP1A1, and ATXN2L; PStage1<3.7×10-7), of which most were common and annotated as nonsynonymous variants. Gene-based analysis identified associations of functional rare variants in three genes with eGFRcrea, including a novel association with the SOS Ras/Rho guanine nucleotide exchange factor 2 gene, SOS2 (P=5.4×10-8 by sequence kernel association test). Experimental follow-up in zebrafish embryos revealed changes in glomerular gene expression and renal tubule morphology in the embryonic kidney of acp1- and sos2-knockdowns. These developmental abnormalities associated with altered blood clearance rate and heightened prevalence of edema. This study expands the number of loci associated with kidney function and identifies novel genes with potential roles in kidney formation.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- human genetics
- kidney development
- renal function
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Li, Man
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Li, Yong
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Weeks, Olivia
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Mijatovic, Vlada ...
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Teumer, Alexande ...
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Huffman, Jennife ...
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show more...
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Tromp, Gerard
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Fuchsberger, Chr ...
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Gorski, Mathias
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Lyytikäinen, Leo ...
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Nutile, Teresa
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Sedaghat, Sanaz
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Sorice, Rossella
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Tin, Adrienne
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Yang, Qiong
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Ahluwalia, Tarun ...
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Arking, Dan E.
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Bihlmeyer, Natha ...
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Böger, Carsten A
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Carroll, Robert ...
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Chasman, Daniel ...
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Cornelis, Marily ...
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Dehghan, Abbas
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Faul, Jessica D
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Feitosa, Mary F
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Gambaro, Giovann ...
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Gasparini, Paolo
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Giulianini, Fran ...
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Heid, Iris
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Huang, Jinyan
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Imboden, Medea
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Jackson, Anne U
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Jeff, Janina
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Jhun, Min A.
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Katz, Ronit
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Kifley, Annette
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Kilpeläinen, Tuo ...
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Kumar, Ashish
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Laakso, Markku
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Li-Gao, Ruifang
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Lohman, Kurt
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Lu, Yingchang
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Mägi, Reedik
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Malerba, Giovann ...
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Mihailov, Evelin
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Mohlke, Karen L
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Mook-Kanamori, D ...
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Schulz, Christin ...
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Melander, Olle
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Orho-Melander, M ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Journal of the A ...
- By the university
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Lund University