Li, Man ORCID: 0000-0002-3839-0281, Li, Yong ORCID: 0000-0003-2651-8791, Weeks, Olivia, Mijatovic, Vladan, Teumer, Alexander ORCID: 0000-0002-8309-094X, Huffman, Jennifer E., Tromp, Gerard ORCID: 0000-0002-7761-0806, Fuchsberger, Christian, Gorski, Mathias, Lyytikainen, Leo-Pekka, Nutile, Teresa, Sedaghat, Sanaz, Sorice, Rossella, Tin, Adrienne, Yang, Qiong, Ahluwalia, Tarunveer S., Arking, Dan E., Bihlmeyer, Nathan A., Boeger, Carsten A., Carroll, Robert J., Chasman, Daniel I., Comelis, Marilyn C., Dehghan, Abbas, Faul, Jessica D., Feitosa, Mary F., Gambaro, Giovanni, Gasparini, Paolo ORCID: 0000-0002-0859-0856, Giulianini, Franco, Heid, Iris, Huang, Jinyan, Imboden, Medea, Jackson, Anne U., Jeff, Janina, Jhun, Min A., Katz, Ronit, Kifley, Annette, Kilpelainen, Tuomas ORCID: 0000-0002-8349-3028, Kumar, Ashish, Laakso, Markku, Li-Gao, Ruifang ORCID: 0000-0003-0650-1351, Lohman, Kurt, Lu, Yingchang, Maegi, Reedik, Malerba, Giovanni, Mihailov, Evelin, Mohlke, Karen L., Mook-Kanamori, Dennis O., Robino, Antonietta ORCID: 0000-0003-2152-2353, Ruderfer, Douglas, Salvi, Erika ORCID: 0000-0002-2724-2291, Schick, Ursula M., Schulz, Christina-Alexandra, Smith, Albert V., Smith, Jennifer A., Traglia, Michela, Yerges-Armstrong, Laura M., Zhao, Wei, Goodarzi, Mark O., Kraja, Aldi T., Liu, Chunyu, Wessel, Jennifer ORCID: 0000-0002-7031-0085, Boerwinkle, Eric, Borecki, Ingrid B., Bork-Jensen, Jette, Bottinger, Erwin P., Braga, Daniele ORCID: 0000-0003-2168-8425, Brandslund, Ivan ORCID: 0000-0002-4203-5442, Brody, Jennifer A., Campbell, Archie, Carey, David J., Christensen, Cramer, Coresh, Josef, Crook, Errol, Curhan, Gary C., Cusi, Daniele, de Boer, Ian H., de Vries, Aiko P. J., Denny, Joshua C., Devuyst, Olivier, Dreisbach, Albert W., Endlich, Karlhans ORCID: 0000-0001-6052-6061, Esko, Tonu, Franco, Oscar H., Fulop, Tibor ORCID: 0000-0002-3346-7040, Gerhard, Glenn S., Gluemer, Charlotte, Gottesman, Omri, Grarup, Niels ORCID: 0000-0001-5526-1070, Gudnason, Vilmundur ORCID: 0000-0001-5696-0084, Hansen, Torben, Harris, Tamara B., Hayward, Caroline, Hocking, Lynne, Hofman, Albert, Hu, Frank B., Husemoen, Lise Lotte N., Jackson, Rebecca D., Jorgensen, Torben ORCID: 0000-0001-9453-2830, Jorgensen, Marit E., Kaehoenen, Mika, Kardia, Sharon L. R., Koenig, Wolfgang, Kooperberg, Charles, Kriebel, Jennifer ORCID: 0000-0003-4270-018X, Launer, Lenore J., Lauritzen, Torsten, Lehtimaki, Terho, Levy, Daniel ORCID: 0000-0003-1843-8724, Linksted, Pamela, Linneberg, Allan ORCID: 0000-0002-0994-0184, Liu, Yongmei, Loos, Ruth J. F., Lupo, Antonio, Meisinger, Christine, Melander, Olle, Metspalu, Andres, Mitchell, Paul, Nauck, Matthias, Nuernberg, Peter, Orho-Melander, Marju, Parsa, Afshin, Pedersen, Oluf ORCID: 0000-0002-3321-3972, Peters, Annette ORCID: 0000-0001-6645-0985, Peters, Ulrike, Polasek, Ozren ORCID: 0000-0002-5765-1862, Porteous, David, Probst-Hensch, Nicole M., Psaty, Bruce M., Qi, Lu, Raitakari, Olli T., Reiner, Alex P., Rettig, Rainer, Ridker, Paul M., Rivadeneira, Fernando ORCID: 0000-0001-9435-9441, Rossouw, Jacques E., Schmidt, Frank, Siscovick, David, Soranzo, Nicole, Strauch, Konstantin, Toniolo, Daniela ORCID: 0000-0001-9545-6032, Turner, Stephen T., Uitterlinden, Andre G., Ulivi, Sheila, Velayutham, Dinesh ORCID: 0000-0002-9425-7266, Voelker, Uwe, Volzke, Henry, Waldenberger, Melanie ORCID: 0000-0003-0583-5093, Wang, Jie Jin ORCID: 0000-0001-9491-4898, Weir, David R., Witte, Daniel ORCID: 0000-0002-0769-2922, Kuivaniemi, Helena ORCID: 0000-0001-5753-8766, Fox, Caroline S., Franceschini, Nora, Goessling, Wolfram, Koettgen, Anna and Chu, Audrey Y.
(2017).
SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function.
J. Am. Soc. Nephrol., 28 (3).
S. 981 - 995.
WASHINGTON:
AMER SOC NEPHROLOGY.
ISSN 1533-3450
Full text not available from this repository.
Abstract
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 (n(stage1);111,666;n(stage2): 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; P-stage1<3.7 x10(-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=5.4x 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.
Item Type: |
Journal Article
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Creators: |
Creators | Email | ORCID | ORCID Put Code |
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Li, Man | UNSPECIFIED | orcid.org/0000-0002-3839-0281 | UNSPECIFIED | Li, Yong | UNSPECIFIED | orcid.org/0000-0003-2651-8791 | UNSPECIFIED | Weeks, Olivia | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mijatovic, Vladan | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Teumer, Alexander | UNSPECIFIED | orcid.org/0000-0002-8309-094X | UNSPECIFIED | Huffman, Jennifer E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tromp, Gerard | UNSPECIFIED | orcid.org/0000-0002-7761-0806 | UNSPECIFIED | Fuchsberger, Christian | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gorski, Mathias | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lyytikainen, Leo-Pekka | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Nutile, Teresa | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sedaghat, Sanaz | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sorice, Rossella | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tin, Adrienne | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Yang, Qiong | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ahluwalia, Tarunveer S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Arking, Dan E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bihlmeyer, Nathan A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Boeger, Carsten A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Carroll, Robert J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Chasman, Daniel I. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Comelis, Marilyn C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dehghan, Abbas | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Faul, Jessica D. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Feitosa, Mary F. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gambaro, Giovanni | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gasparini, Paolo | UNSPECIFIED | orcid.org/0000-0002-0859-0856 | UNSPECIFIED | Giulianini, Franco | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Heid, Iris | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Huang, Jinyan | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Imboden, Medea | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Jackson, Anne U. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Jeff, Janina | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Jhun, Min A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Katz, Ronit | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kifley, Annette | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kilpelainen, Tuomas | UNSPECIFIED | orcid.org/0000-0002-8349-3028 | UNSPECIFIED | Kumar, Ashish | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Laakso, Markku | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Li-Gao, Ruifang | UNSPECIFIED | orcid.org/0000-0003-0650-1351 | UNSPECIFIED | Lohman, Kurt | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lu, Yingchang | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Maegi, Reedik | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Malerba, Giovanni | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mihailov, Evelin | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mohlke, Karen L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mook-Kanamori, Dennis O. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Robino, Antonietta | UNSPECIFIED | orcid.org/0000-0003-2152-2353 | UNSPECIFIED | Ruderfer, Douglas | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Salvi, Erika | UNSPECIFIED | orcid.org/0000-0002-2724-2291 | UNSPECIFIED | Schick, Ursula M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schulz, Christina-Alexandra | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Smith, Albert V. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Smith, Jennifer A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Traglia, Michela | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Yerges-Armstrong, Laura M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Zhao, Wei | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Goodarzi, Mark O. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kraja, Aldi T. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Liu, Chunyu | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wessel, Jennifer | UNSPECIFIED | orcid.org/0000-0002-7031-0085 | UNSPECIFIED | Boerwinkle, Eric | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Borecki, Ingrid B. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bork-Jensen, Jette | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bottinger, Erwin P. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Braga, Daniele | UNSPECIFIED | orcid.org/0000-0003-2168-8425 | UNSPECIFIED | Brandslund, Ivan | UNSPECIFIED | orcid.org/0000-0002-4203-5442 | UNSPECIFIED | Brody, Jennifer A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Campbell, Archie | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Carey, David J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Christensen, Cramer | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Coresh, Josef | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Crook, Errol | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Curhan, Gary C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Cusi, Daniele | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | de Boer, Ian H. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | de Vries, Aiko P. J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Denny, Joshua C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Devuyst, Olivier | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dreisbach, Albert W. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Endlich, Karlhans | UNSPECIFIED | orcid.org/0000-0001-6052-6061 | UNSPECIFIED | Esko, Tonu | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Franco, Oscar H. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Fulop, Tibor | UNSPECIFIED | orcid.org/0000-0002-3346-7040 | UNSPECIFIED | Gerhard, Glenn S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gluemer, Charlotte | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gottesman, Omri | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Grarup, Niels | UNSPECIFIED | orcid.org/0000-0001-5526-1070 | UNSPECIFIED | Gudnason, Vilmundur | UNSPECIFIED | orcid.org/0000-0001-5696-0084 | UNSPECIFIED | Hansen, Torben | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Harris, Tamara B. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hayward, Caroline | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hocking, Lynne | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hofman, Albert | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hu, Frank B. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Husemoen, Lise Lotte N. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Jackson, Rebecca D. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Jorgensen, Torben | UNSPECIFIED | orcid.org/0000-0001-9453-2830 | UNSPECIFIED | Jorgensen, Marit E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kaehoenen, Mika | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kardia, Sharon L. R. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Koenig, Wolfgang | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kooperberg, Charles | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kriebel, Jennifer | UNSPECIFIED | orcid.org/0000-0003-4270-018X | UNSPECIFIED | Launer, Lenore J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lauritzen, Torsten | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lehtimaki, Terho | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Levy, Daniel | UNSPECIFIED | orcid.org/0000-0003-1843-8724 | UNSPECIFIED | Linksted, Pamela | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Linneberg, Allan | UNSPECIFIED | orcid.org/0000-0002-0994-0184 | UNSPECIFIED | Liu, Yongmei | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Loos, Ruth J. F. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lupo, Antonio | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Meisinger, Christine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Melander, Olle | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Metspalu, Andres | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mitchell, Paul | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Nauck, Matthias | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Nuernberg, Peter | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Orho-Melander, Marju | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Parsa, Afshin | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Pedersen, Oluf | UNSPECIFIED | orcid.org/0000-0002-3321-3972 | UNSPECIFIED | Peters, Annette | UNSPECIFIED | orcid.org/0000-0001-6645-0985 | UNSPECIFIED | Peters, Ulrike | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Polasek, Ozren | UNSPECIFIED | orcid.org/0000-0002-5765-1862 | UNSPECIFIED | Porteous, David | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Probst-Hensch, Nicole M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Psaty, Bruce M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Qi, Lu | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Raitakari, Olli T. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Reiner, Alex P. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rettig, Rainer | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ridker, Paul M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rivadeneira, Fernando | UNSPECIFIED | orcid.org/0000-0001-9435-9441 | UNSPECIFIED | Rossouw, Jacques E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schmidt, Frank | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Siscovick, David | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Soranzo, Nicole | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Strauch, Konstantin | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Toniolo, Daniela | UNSPECIFIED | orcid.org/0000-0001-9545-6032 | UNSPECIFIED | Turner, Stephen T. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Uitterlinden, Andre G. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ulivi, Sheila | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Velayutham, Dinesh | UNSPECIFIED | orcid.org/0000-0002-9425-7266 | UNSPECIFIED | Voelker, Uwe | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Volzke, Henry | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Waldenberger, Melanie | UNSPECIFIED | orcid.org/0000-0003-0583-5093 | UNSPECIFIED | Wang, Jie Jin | UNSPECIFIED | orcid.org/0000-0001-9491-4898 | UNSPECIFIED | Weir, David R. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Witte, Daniel | UNSPECIFIED | orcid.org/0000-0002-0769-2922 | UNSPECIFIED | Kuivaniemi, Helena | UNSPECIFIED | orcid.org/0000-0001-5753-8766 | UNSPECIFIED | Fox, Caroline S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Franceschini, Nora | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Goessling, Wolfram | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Koettgen, Anna | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Chu, Audrey Y. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED |
|
URN: |
urn:nbn:de:hbz:38-239201 |
DOI: |
10.1681/ASN.2016020131 |
Journal or Publication Title: |
J. Am. Soc. Nephrol. |
Volume: |
28 |
Number: |
3 |
Page Range: |
S. 981 - 995 |
Date: |
2017 |
Publisher: |
AMER SOC NEPHROLOGY |
Place of Publication: |
WASHINGTON |
ISSN: |
1533-3450 |
Language: |
English |
Faculty: |
Unspecified |
Divisions: |
Unspecified |
Subjects: |
no entry |
Uncontrolled Keywords: |
Keywords | Language |
---|
LOW-FREQUENCY; RARE VARIANTS; SEQUENCE VARIANTS; NOONAN SYNDROME; ASSOCIATION; METAANALYSIS; COMMON; DISEASE | Multiple languages | Urology & Nephrology | Multiple languages |
|
Refereed: |
Yes |
URI: |
http://kups.ub.uni-koeln.de/id/eprint/23920 |
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