A catalog of genetic loci associated with kidney function from analyses of a million individuals

File Description SizeFormat 
eGFR_CKDGen_R4_manuscript_REV3_20190304_final.docxFile embargoed until 30 November 2019418.48 kBMicrosoft Word    Request a copy
eGFR_CKDGen_R4_figures_REV_20181126.pdfFile embargoed until 30 November 20194.17 MBAdobe PDF    Request a copy
eGFR_CKDGen_R4_supplementary_materials_REV_20181126.pdfFile embargoed until 30 November 20194.08 MBAdobe PDF    Request a copy
eGFR_CKDGen_R4_supplementary_tables_REV_20181127_coauthors.xlsxFile embargoed until 30 November 2019853.22 kBMicrosoft Excel XML    Request a copy
Title: A catalog of genetic loci associated with kidney function from analyses of a million individuals
Authors: Wuttke, M
Li, Y
Li, M
Sieber, KB
Feitosa, MF
Gorski, M
Tin, A
Wang, L
Chu, AY
Hoppmann, A
Kirsten, H
Giri, A
Chai, J-F
Sveinbjornsson, G
Tayo, BO
Nutile, T
Fuchsberger, C
Marten, J
Cocca, M
Ghasemi, S
Xu, Y
Horn, K
Noce, D
Van der Most, PJ
Sedaghat, S
Yu, Z
Akiyama, M
Afaq, S
Ahluwalia, TS
Almgren, P
Amin, N
Arnlov, J
Bakker, SJL
Bansal, N
Baptista, D
Bergmann, S
Biggs, ML
Biino, G
Boehnke, M
Boerwinkle, E
Boissel, M
Bottinger, EP
Boutin, TS
Brenner, H
Brumat, M
Burkhardt, R
Butterworth, AS
Campana, E
Campbell, A
Campbell, H
Canouil, M
Carroll, RJ
Catamo, E
Chambers, JC
Chee, M-L
Chee, M-L
Chen, X
Cheng, C-Y
Cheng, Y
Christensen, K
Cifkova, R
Ciullo, M
Concas, MP
Cook, JP
Coresh, J
Corre, T
Sala, CF
Cusi, D
Danesh, J
Daw, EW
De Borst, MH
De Grandi, A
De Mutsert, R
De Vries, APJ
Degenhardt, F
Delgado, G
Demirkan, A
Di Angelantonio, E
Dittrich, K
Divers, J
Dorajoo, R
Eckardt, K-U
Ehret, G
Elliott, P
Endlich, K
Evans, MK
Felix, JF
Foo, VHX
Franco, OH
Franke, A
Freedman, BI
Freitag-Wolf, S
Friedlander, Y
Froguel, P
Gansevoort, RT
Gao, H
Gasparini, P
Gaziano, JM
Giedraitis, V
Gieger, C
Girotto, G
Giulianini, F
Gogele, M
Gordon, SD
Gudbjartsson, DF
Gudnason, V
Haller, T
Hamet, P
Harris, TB
Hartman, CA
Hayward, C
Hellwege, JN
Heng, C-K
Hicks, AA
Hofer, E
Huang, W
Hutri-Kahonen, N
Hwang, S-J
Ikram, MA
Indridason, OS
Ingelsson, E
Ising, M
Jaddoe, VWV
Jakobsdottir, J
Jonas, JB
Joshi, PK
Josyula, NS
Jung, B
Kahonen, M
Kamatani, Y
Kammerer, CM
Kanai, M
Kastarinen, M
Kerr, SM
Khor, C-C
Kiess, W
Kleber, ME
Koenig, W
Kooner, JS
Korner, A
Kovacs, P
Kraja, AT
Krajcoviechova, A
Kramer, H
Kramer, BK
Kronenberg, F
Kubo, M
Kuhnel, B
Kuokkanen, M
Kuusisto, J
La Bianca, M
Laakso, M
Lange, LA
Langefeld, CD
Lee, JJ-M
Lehne, B
Lehtimaki, T
Lieb, W
Lim, S-C
Lind, L
Lindgren, CM
Liu, J
Liu, J
Loeffler, M
Loos, RJF
Lucae, S
Lukas, MA
Lyytikainen, L-P
Magi, R
Magnusson, PKE
Mahajan, A
Martin, NG
Martins, J
Marz, W
Mascalzoni, D
Matsuda, K
Meisinger, C
Meitinger, T
Melander, O
Metspalu, A
Mikaelsdottir, EK
Milaneschi, Y
Miliku, K
Mishra, PP
Program, VAMV
Mohlke, KL
Mononen, N
Montgomery, GW
Mook-Kanamori, DO
Mychaleckyj, JC
Nadkarni, GN
Nalls, MA
Nauck, M
Nikus, K
Ning, B
Nolte, IM
Noordam, R
O'Connell, J
O'Donoghue, ML
Olafsson, I
Oldehinkel, AJ
Orho-Melander, M
Ouwehand, WH
Padmanabhan, S
Palmer, ND
Palsson, R
Penninx, BWJH
Perls, T
Perola, M
Pirastu, M
Pirastu, N
Pistis, G
Podgornaia, AI
Polasek, O
Ponte, B
Porteous, DJ
Poulain, T
Pramstaller, PP
Preuss, MH
Prins, BP
Province, MA
Rabelink, TJ
Raffield, LM
Raitakari, OT
Reilly, DF
Rettig, R
Rheinberger, M
Rice, KM
Ridker, PM
Rivadeneira, F
Rizzi, F
Roberts, DJ
Robino, A
Rossing, P
Rudan, I
Rueedi, R
Ruggiero, D
Ryan, KA
Saba, Y
Sabanayagam, C
Salomaa, V
Salvi, E
Saum, K-U
Schmidt, H
Schmidt, R
Ben, S
Schulz, C-A
Schupf, N
Shaffer, CM
Shi, Y
Smith, AV
Smith, BH
Soranzo, N
Spracklen, CN
Strauch, K
Stringham, HM
Stumvoll, M
Svensson, PO
Szymczak, S
Tai, E-S
Tajuddin, SM
Tan, NYQ
Taylor, KD
Teren, A
Tham, Y-C
Thiery, J
Thio, CHL
Thomsen, H
Thorleifsson, G
Toniolo, D
Tonjes, A
Tremblay, J
Tzoulaki, I
Uitterlinden, AG
Vaccargiu, S
Van Dam, RM
Van der Harst, P
Van Duijn, CM
Edward, DRV
Verweij, N
Vogelezang, S
Volker, U
Vollenweider, P
Waeber, G
Waldenberger, M
Wallentin, L
Wang, YX
Wang, C
Waterworth, DM
Bin Wei, W
White, H
Whitfield, JB
Wild, SH
Wilson, JF
Wojczynski, MK
Wong, C
Wong, T-Y
Xu, L
Yang, Q
Yasuda, M
Yerges-Armstrong, LM
Zhang, W
Zonderman, AB
Rotter, JI
Bochud, M
Psaty, BM
Vitart, V
Wilson, JG
Dehghan, A
Parsa, A
Chasman, DI
Ho, K
Morris, AP
Devuyst, O
Akilesh, S
Pendergrass, SA
Sim, X
Boger, CA
Okada, Y
Edwards, TL
Snieder, H
Stefansson, K
Hung, AM
Heid, IM
Scholz, M
Teumer, A
Kottgen, A
Pattaro, C
Item Type: Journal Article
Abstract: Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through trans-ancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these, 147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.
Issue Date: 31-May-2019
Date of Acceptance: 29-Mar-2019
URI: http://hdl.handle.net/10044/1/70965
DOI: https://doi.org/10.1038/s41588-019-0407-x
ISSN: 1061-4036
Publisher: Nature Research
Start Page: 957
End Page: 972
Journal / Book Title: Nature Genetics
Volume: 51
Issue: 6
Copyright Statement: © 2019 Springer-Verlag. The final publication is available at Springer via https://doi.org/10.1038/s41588-019-0407-x.
Keywords: Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
GENOME-WIDE ASSOCIATION
COMMON VARIANTS
RENAL-FUNCTION
TRANS-EQTLS
DISEASE
METAANALYSIS
TRANSPORTER
CLASSIFICATION
HERITABILITY
INTEGRATION
Lifelines Cohort Study
V. A. Million Veteran Program
Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
GENOME-WIDE ASSOCIATION
COMMON VARIANTS
RENAL-FUNCTION
TRANS-EQTLS
DISEASE
METAANALYSIS
TRANSPORTER
CLASSIFICATION
HERITABILITY
INTEGRATION
Developmental Biology
11 Medical and Health Sciences
06 Biological Sciences
Publication Status: Published
Embargo Date: 2019-11-30
Online Publication Date: 2019-05-31
Appears in Collections:Faculty of Medicine
Epidemiology, Public Health and Primary Care



Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Creative Commonsx