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Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function

Title: Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function
Authors: Pattaro, C; Kottgen, A; Teumer, A; Garnaas, M; Boger, CA; Fuchsberger, C; Olden, M; Chen, MH; Tin, A; Taliun, D; Li, M; Gao, XY; Gorski, M; Yang, Q; Hundertmark, C; Foster, MC; O'Seaghdha, CM; Glazer, N; Isaacs, Aaron; Liu, CT; Smith, AV; O'Connell, JR; Struchalin, M; Tanaka, T; Li, G (Guo); Johnson, AD; Gierman, HJ; Feitosa, M; Hwang, SJ; Atkinson, EJ; Lohman, K; Cornelis, MC; Johansson, A; Tonjes, A; Dehghan, Abbas; Chouraki, V; Holliday, EG; Sorice, R; Kutalik, Z; Lehtimaki, T; Esko, T; Deshmukh, H; Ulivi, S; Chu, AY; Murgia, F; Trompet, S; Imboden, M; Kollerits, B; Pistis, G; Harris, TB; Launer, LJ (Lenore); Aspelund, T; Eiriksdottir, G; Mitchell, BD; Boerwinkle, E; Schmidt, Heléna; Cavalieri, M; Rao, M; Hu, FB; Demirkan, Ayse; Oostra, Ben; de Andrade, M; Turner, ST; Ding, JZ (Jing Zhong); Andrews, JS; Freedman, BI; Koenig, W; Illig, T; Doring, A; Wichmann, HE; Kolcic, I; Zemunik, T; Boban, M; Minelli, C; Wheeler, HE; Igl, W; Zaboli, G; Wild, SH; Wright, AF; Campbell, H; Ellinghaus, D; Nothlings, U; Jacobs, Gunar; Biffar, R; Endlich, K; Ernst, F; Homuth, G; Kroemer, HK; Nauck, M; Stracke, S; Volker, U; Volzke, H; Kovacs, P; Stumvoll, M; Magi, R; Hofman, Bert; Uitterlinden, André; Rivadeneira, Fernando; Aulchenko, YS; Polasek, O; Hastie, N; Vitart, V; Helmer, C; Wang, JJ; Ruggiero, D; Bergmann, S; Kahonen, M; Viikari, J; Nikopensius, T; Province, M; Ketkar, S; Colhoun, H; Doney, A; Robino, A; Giulianini, F; Kramer, BK; Portas, L; Ford, I; Buckley, BM; Adam, M; Thun, GA; Paulweber, B; Haun, M; Sala, C; Metzger, M; Mitchell, P; Ciullo, M; Kim, SK; Vollenweider, P; Raitakari, O; Metspalu, A; Palmer, C; Gasparini, P; Pirastu, M; Jukema, JW; Probst-Hensch, NM; Kronenberg, F; Toniolo, D; Gudnason, V; Shuldiner, AR; Coresh, J; Schmidt, R; Ferrucci, L; Siscovick, DS; Duijn, Cornelia; Borecki, I; Kardia, SLR; Liu, YM; Curhan, GC; Rudan, I; Gyllensten, U; Wilson, JF; Franke, A; Pramstaller, PP; Rettig, R; Prokopenko, I; Witteman, JCM; Hayward, C; Ridker, P; Parsa, A; Bochud, M; Heid, IM; Goessling, W; Chasman, DI; Kao, WHL; Fox, CS
Source: Pattaro, C, Kottgen, A, Teumer, A, Garnaas, M, Boger, CA, Fuchsberger, C, Olden, M, Chen, MH, Tin, A, Taliun, D, Li, M, Gao, XY, Gorski, M, Yang, Q, Hundertmark, C, Foster, MC, O'Seaghdha, CM, Glazer, N, Isaacs, A, Liu, CT, Smith, AV, O'Connell, JR, Struchalin, M, Tanaka, T, Li, G, Johnson, AD, Gierman, HJ, Feitosa, M, Hwang, SJ, Atkinson, EJ, Lohman, K, Cornelis, MC, Johansson, A, Tonjes, A, Dehghan, A, Chouraki, V, Holliday, EG, Sorice, R, Kutalik, Z, Lehtimaki, T, Esko, T, Deshmukh, H, Ulivi, S, Chu, AY, Murgia, F, Trompet, S, Imboden, M, Kollerits, B, Pistis, G, Harris, ....
Publication Year: 2012
Subject Terms: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601; name=EMC MGC-02-96-01; /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM013909A; name=EMC MM-01-39-09-A; /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES016401; name=EMC NIHES-01-64-01; /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES016402; name=EMC NIHES-01-64-02; /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being; name=SDG 3 - Good Health and Well-being
Description: Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genomewide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new loci in association with estimated glomerular filtration rate (eGFR), the primary clinical measure of CKD, in or near MPPED2, DDX1, SLC47A1, CDK12, CASP9, and INO80. Morpholino knockdown of mpped2 and casp9 in zebrafish embryos revealed podocyte and tubular abnormalities with altered dextran clearance, suggesting a role for these genes in renal function. By providing new insights into genes that regulate renal function, these results could further our understanding of the pathogenesis of CKD.
Document Type: article in journal/newspaper
File Description: application/pdf
Language: unknown
ISSN: 1553-7390; 1553-7404
Relation: info:eu-repo/semantics/altIdentifier/pmid/22479191; info:eu-repo/semantics/altIdentifier/pissn/1553-7390; info:eu-repo/semantics/altIdentifier/eissn/1553-7404
DOI: 10.1371/journal.pgen.1002584
Availability: https://pure.eur.nl/en/publications/3195e94f-5568-47d0-b866-53b792c7a4f2; https://doi.org/10.1371/journal.pgen.1002584; https://pure.eur.nl/ws/files/47439361/metis_180795_VOR.pdf; https://hdl.handle.net/1765/37913
Rights: info:eu-repo/semantics/openAccess
Accession Number: edsbas.CFCBDE28
Database: BASE