Publication

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

COGENT Consortium, Morris, A. P., Le, T. H., Wu, H., Akbarov, A., van der Most, P. J., Hemani, G., Smith, G. D., Mahajan, A., Gaulton, K. J., Nadkarni, G. N., Valladares-Salgado, A., Wacher-Rodarte, N., Mychaleckyj, J. C., Dueker, N. D., Guo, X., Hai, Y., Haessler, J., Kamatani, Y., Stilp, A. M., Zhu, G., Cook, J. P., Arnlov, J., Blanton, S. H., de Borst, M. H., Bottinger, E. P., Buchanan, T. A., Cechova, S., Charchar, F. J., Chu, P-L., Damman, J., Eales, J., Gharavi, A. G., Giedraitis, V., Heath, A. C., Ipp, E., Kiryluk, K., Kramer, H. J., Kubo, M., Larsson, A., Lindgren, C. M., Lu, Y., Madden, P. A. F., Montgomery, G. W., Papanicolaou, G. J., Raffel, L. J., Sacco, R. L., Sanchez, E., Stark, H., Sundstrom, J. & Snieder, H., 3-Jan-2019, In : Nature Communications. 10, 1, 14 p., 29.

Research output: Contribution to journalArticleAcademicpeer-review

APA

COGENT Consortium, Morris, A. P., Le, T. H., Wu, H., Akbarov, A., van der Most, P. J., ... Snieder, H. (2019). Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. Nature Communications, 10(1), [29]. https://doi.org/10.1038/s41467-018-07867-7

Author

COGENT Consortium ; Morris, Andrew P. ; Le, Thu H. ; Wu, Haojia ; Akbarov, Artur ; van der Most, Peter J. ; Hemani, Gibran ; Smith, George Davey ; Mahajan, Anubha ; Gaulton, Kyle J. ; Nadkarni, Girish N. ; Valladares-Salgado, Adan ; Wacher-Rodarte, Niels ; Mychaleckyj, Josyf C. ; Dueker, Nicole D. ; Guo, Xiuqing ; Hai, Yang ; Haessler, Jeffrey ; Kamatani, Yoichiro ; Stilp, Adrienne M. ; Zhu, Gu ; Cook, James P. ; Arnlov, Johan ; Blanton, Susan H. ; de Borst, Martin H. ; Bottinger, Erwin P. ; Buchanan, Thomas A. ; Cechova, Sylvia ; Charchar, Fadi J. ; Chu, Pei-Lun ; Damman, Jeffrey ; Eales, James ; Gharavi, Ali G. ; Giedraitis, Vilmantas ; Heath, Andrew C. ; Ipp, Eli ; Kiryluk, Krzysztof ; Kramer, Holly J. ; Kubo, Michiaki ; Larsson, Anders ; Lindgren, Cecilia M. ; Lu, Yingchang ; Madden, Pamela A. F. ; Montgomery, Grant W. ; Papanicolaou, George J. ; Raffel, Leslie J. ; Sacco, Ralph L. ; Sanchez, Elena ; Stark, Holger ; Sundstrom, Johan ; Snieder, Harold. / Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. In: Nature Communications. 2019 ; Vol. 10, No. 1.

Harvard

COGENT Consortium, Morris, AP, Le, TH, Wu, H, Akbarov, A, van der Most, PJ, Hemani, G, Smith, GD, Mahajan, A, Gaulton, KJ, Nadkarni, GN, Valladares-Salgado, A, Wacher-Rodarte, N, Mychaleckyj, JC, Dueker, ND, Guo, X, Hai, Y, Haessler, J, Kamatani, Y, Stilp, AM, Zhu, G, Cook, JP, Arnlov, J, Blanton, SH, de Borst, MH, Bottinger, EP, Buchanan, TA, Cechova, S, Charchar, FJ, Chu, P-L, Damman, J, Eales, J, Gharavi, AG, Giedraitis, V, Heath, AC, Ipp, E, Kiryluk, K, Kramer, HJ, Kubo, M, Larsson, A, Lindgren, CM, Lu, Y, Madden, PAF, Montgomery, GW, Papanicolaou, GJ, Raffel, LJ, Sacco, RL, Sanchez, E, Stark, H, Sundstrom, J & Snieder, H 2019, 'Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies' Nature Communications, vol. 10, no. 1, 29. https://doi.org/10.1038/s41467-018-07867-7

Standard

Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. / COGENT Consortium; Morris, Andrew P.; Le, Thu H.; Wu, Haojia; Akbarov, Artur; van der Most, Peter J.; Hemani, Gibran; Smith, George Davey; Mahajan, Anubha; Gaulton, Kyle J.; Nadkarni, Girish N.; Valladares-Salgado, Adan; Wacher-Rodarte, Niels; Mychaleckyj, Josyf C.; Dueker, Nicole D.; Guo, Xiuqing; Hai, Yang; Haessler, Jeffrey; Kamatani, Yoichiro; Stilp, Adrienne M.; Zhu, Gu; Cook, James P.; Arnlov, Johan; Blanton, Susan H.; de Borst, Martin H.; Bottinger, Erwin P.; Buchanan, Thomas A.; Cechova, Sylvia; Charchar, Fadi J.; Chu, Pei-Lun; Damman, Jeffrey; Eales, James; Gharavi, Ali G.; Giedraitis, Vilmantas; Heath, Andrew C.; Ipp, Eli; Kiryluk, Krzysztof; Kramer, Holly J.; Kubo, Michiaki; Larsson, Anders; Lindgren, Cecilia M.; Lu, Yingchang; Madden, Pamela A. F.; Montgomery, Grant W.; Papanicolaou, George J.; Raffel, Leslie J.; Sacco, Ralph L.; Sanchez, Elena; Stark, Holger; Sundstrom, Johan; Snieder, Harold.

In: Nature Communications, Vol. 10, No. 1, 29, 03.01.2019.

Research output: Contribution to journalArticleAcademicpeer-review

Vancouver

COGENT Consortium, Morris AP, Le TH, Wu H, Akbarov A, van der Most PJ et al. Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. Nature Communications. 2019 Jan 3;10(1). 29. https://doi.org/10.1038/s41467-018-07867-7


BibTeX

@article{5fae8407deda48869cd49806934ce83b,
title = "Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies",
abstract = "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.",
keywords = "GENOME-WIDE ASSOCIATION, GLOMERULAR-FILTRATION-RATE, MENDELIAN RANDOMIZATION, GENOTYPE IMPUTATION, SERUM CREATININE, BLOOD-PRESSURE, CELL-TYPES, EXPRESSION, VARIANTS, LOCI",
author = "{COGENT Consortium} and Morris, {Andrew P.} and Le, {Thu H.} and Haojia Wu and Artur Akbarov and {van der Most}, {Peter J.} and Gibran Hemani and Smith, {George Davey} and Anubha Mahajan and Gaulton, {Kyle J.} and Nadkarni, {Girish N.} and Adan Valladares-Salgado and Niels Wacher-Rodarte and Mychaleckyj, {Josyf C.} and Dueker, {Nicole D.} and Xiuqing Guo and Yang Hai and Jeffrey Haessler and Yoichiro Kamatani and Stilp, {Adrienne M.} and Gu Zhu and Cook, {James P.} and Johan Arnlov and Blanton, {Susan H.} and {de Borst}, {Martin H.} and Bottinger, {Erwin P.} and Buchanan, {Thomas A.} and Sylvia Cechova and Charchar, {Fadi J.} and Pei-Lun Chu and Jeffrey Damman and James Eales and Gharavi, {Ali G.} and Vilmantas Giedraitis and Heath, {Andrew C.} and Eli Ipp and Krzysztof Kiryluk and Kramer, {Holly J.} and Michiaki Kubo and Anders Larsson and Lindgren, {Cecilia M.} and Yingchang Lu and Madden, {Pamela A. F.} and Montgomery, {Grant W.} and Papanicolaou, {George J.} and Raffel, {Leslie J.} and Sacco, {Ralph L.} and Elena Sanchez and Holger Stark and Johan Sundstrom and Harold Snieder",
year = "2019",
month = "1",
day = "3",
doi = "10.1038/s41467-018-07867-7",
language = "English",
volume = "10",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "Nature Publishing Group",
number = "1",

}

RIS

TY - JOUR

T1 - Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies

AU - COGENT Consortium

AU - Morris, Andrew P.

AU - Le, Thu H.

AU - Wu, Haojia

AU - Akbarov, Artur

AU - van der Most, Peter J.

AU - Hemani, Gibran

AU - Smith, George Davey

AU - Mahajan, Anubha

AU - Gaulton, Kyle J.

AU - Nadkarni, Girish N.

AU - Valladares-Salgado, Adan

AU - Wacher-Rodarte, Niels

AU - Mychaleckyj, Josyf C.

AU - Dueker, Nicole D.

AU - Guo, Xiuqing

AU - Hai, Yang

AU - Haessler, Jeffrey

AU - Kamatani, Yoichiro

AU - Stilp, Adrienne M.

AU - Zhu, Gu

AU - Cook, James P.

AU - Arnlov, Johan

AU - Blanton, Susan H.

AU - de Borst, Martin H.

AU - Bottinger, Erwin P.

AU - Buchanan, Thomas A.

AU - Cechova, Sylvia

AU - Charchar, Fadi J.

AU - Chu, Pei-Lun

AU - Damman, Jeffrey

AU - Eales, James

AU - Gharavi, Ali G.

AU - Giedraitis, Vilmantas

AU - Heath, Andrew C.

AU - Ipp, Eli

AU - Kiryluk, Krzysztof

AU - Kramer, Holly J.

AU - Kubo, Michiaki

AU - Larsson, Anders

AU - Lindgren, Cecilia M.

AU - Lu, Yingchang

AU - Madden, Pamela A. F.

AU - Montgomery, Grant W.

AU - Papanicolaou, George J.

AU - Raffel, Leslie J.

AU - Sacco, Ralph L.

AU - Sanchez, Elena

AU - Stark, Holger

AU - Sundstrom, Johan

AU - Snieder, Harold

PY - 2019/1/3

Y1 - 2019/1/3

N2 - 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.

AB - 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.

KW - GENOME-WIDE ASSOCIATION

KW - GLOMERULAR-FILTRATION-RATE

KW - MENDELIAN RANDOMIZATION

KW - GENOTYPE IMPUTATION

KW - SERUM CREATININE

KW - BLOOD-PRESSURE

KW - CELL-TYPES

KW - EXPRESSION

KW - VARIANTS

KW - LOCI

U2 - 10.1038/s41467-018-07867-7

DO - 10.1038/s41467-018-07867-7

M3 - Article

VL - 10

JO - Nature Communications

JF - Nature Communications

SN - 2041-1723

IS - 1

M1 - 29

ER -

ID: 73567303