Genome-wide association and functional follow-up reveals new loci for kidney function

Cristian Pattaro; Anna Köttgen; Alexander Teumer; Maija Garnaas; Carsten A. Boeger; Christian Fuchsberger; Matthias Olden; Ming-Huei Chen; Adrienne Tin; Daniel Taliun; Man Li; Xiaoyi Gao; Mathias Gorski; Qiong Yang; Claudia Hundertmark; Meredith C. Foster; Conall M. O'Seaghdha; Nicole Glazer; Aaron Isaacs; Ching-Ti Liu; Albert V. Smith; Jeffrey R. O'Connell; Maksim Struchalin; Toshiko Tanaka; Guo Li; Andrew D. Johnson; Hinco J. Gierman; Mary Feitosa; Shih-Jen Hwang; Elizabeth J. Atkinson; Kurt Lohman; Marilyn C. Cornelis; Asa Johansson; Anke Toenjes; Abbas Dehghan; Vincent Chouraki; Elizabeth G. Holliday; Rossella Sorice; Zoltan Kutalik; Terho Lehtimaeki; Tonu Esko; Harshal Deshmukh; Sheila Ulivi; Audrey Y. Chu; Federico Murgia; Stella Trompet; Medea Imboden; Helen Colhoun; Alex Doney; Colin Palmer; WTCCC2, CARDIoGRAM Consortium, CARe Consortium, ICBP Consortium

doi:10.1371/journal.pgen.1002584

Genome-wide association and functional follow-up reveals new loci for kidney function

Cristian Pattaro, Anna Köttgen, Alexander Teumer, Maija Garnaas, Carsten A. Boeger, Christian Fuchsberger, Matthias Olden, Ming-Huei Chen, Adrienne Tin, Daniel Taliun, Man Li, Xiaoyi Gao, Mathias Gorski, Qiong Yang, Claudia Hundertmark, Meredith C. Foster, Conall M. O'Seaghdha, Nicole Glazer, Aaron Isaacs, Ching-Ti LiuAlbert V. Smith, Jeffrey R. O'Connell, Maksim Struchalin, Toshiko Tanaka, Guo Li, Andrew D. Johnson, Hinco J. Gierman, Mary Feitosa, Shih-Jen Hwang, Elizabeth J. Atkinson, Kurt Lohman, Marilyn C. Cornelis, Asa Johansson, Anke Toenjes, Abbas Dehghan, Vincent Chouraki, Elizabeth G. Holliday, Rossella Sorice, Zoltan Kutalik, Terho Lehtimaeki, Tonu Esko, Harshal Deshmukh, Sheila Ulivi, Audrey Y. Chu, Federico Murgia, Stella Trompet, Medea Imboden, Helen Colhoun, Alex Doney, Colin Palmer, WTCCC2, CARDIoGRAM Consortium, CARe Consortium, ICBP Consortium

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Abstract

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.

Original language	English
Article number	e1002584
Pages (from-to)	-
Number of pages	15
Journal	PLoS Genetics
Volume	8
Issue number	3
DOIs	https://doi.org/10.1371/journal.pgen.1002584
Publication status	Published - 2012

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Pattaro, C., Köttgen, A., Teumer, A., Garnaas, M., Boeger, C. A., Fuchsberger, C., Olden, M., Chen, M.-H., Tin, A., Taliun, D., Li, M., Gao, X., Gorski, M., Yang, Q., Hundertmark, C., Foster, M. C., O'Seaghdha, C. M., Glazer, N., Isaacs, A., ... WTCCC2, CARDIoGRAM Consortium, CARe Consortium, ICBP Consortium (2012). Genome-wide association and functional follow-up reveals new loci for kidney function. PLoS Genetics, 8(3), -. Article e1002584. https://doi.org/10.1371/journal.pgen.1002584

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title = "Genome-wide association and functional follow-up reveals new loci for kidney function",

abstract = "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.",

author = "Cristian Pattaro and Anna K{\"o}ttgen and Alexander Teumer and Maija Garnaas and Boeger, {Carsten A.} and Christian Fuchsberger and Matthias Olden and Ming-Huei Chen and Adrienne Tin and Daniel Taliun and Man Li and Xiaoyi Gao and Mathias Gorski and Qiong Yang and Claudia Hundertmark and Foster, {Meredith C.} and O'Seaghdha, {Conall M.} and Nicole Glazer and Aaron Isaacs and Ching-Ti Liu and Smith, {Albert V.} and O'Connell, {Jeffrey R.} and Maksim Struchalin and Toshiko Tanaka and Guo Li and Johnson, {Andrew D.} and Gierman, {Hinco J.} and Mary Feitosa and Shih-Jen Hwang and Atkinson, {Elizabeth J.} and Kurt Lohman and Cornelis, {Marilyn C.} and Asa Johansson and Anke Toenjes and Abbas Dehghan and Vincent Chouraki and Holliday, {Elizabeth G.} and Rossella Sorice and Zoltan Kutalik and Terho Lehtimaeki and Tonu Esko and Harshal Deshmukh and Sheila Ulivi and Chu, {Audrey Y.} and Federico Murgia and Stella Trompet and Medea Imboden and Helen Colhoun and Alex Doney and Colin Palmer and {WTCCC2, CARDIoGRAM Consortium, CARe Consortium, ICBP Consortium}",

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Pattaro, C, Köttgen, A, Teumer, A, Garnaas, M, Boeger, CA, Fuchsberger, C, Olden, M, Chen, M-H, Tin, A, Taliun, D, Li, M, Gao, X, Gorski, M, Yang, Q, Hundertmark, C, Foster, MC, O'Seaghdha, CM, Glazer, N, Isaacs, A, Liu, C-T, Smith, AV, O'Connell, JR, Struchalin, M, Tanaka, T, Li, G, Johnson, AD, Gierman, HJ, Feitosa, M, Hwang, S-J, Atkinson, EJ, Lohman, K, Cornelis, MC, Johansson, A, Toenjes, A, Dehghan, A, Chouraki, V, Holliday, EG, Sorice, R, Kutalik, Z, Lehtimaeki, T, Esko, T, Deshmukh, H, Ulivi, S, Chu, AY, Murgia, F, Trompet, S, Imboden, M, Colhoun, H, Doney, A , Palmer, C & WTCCC2, CARDIoGRAM Consortium, CARe Consortium, ICBP Consortium 2012, 'Genome-wide association and functional follow-up reveals new loci for kidney function', PLoS Genetics, vol. 8, no. 3, e1002584, pp. -. https://doi.org/10.1371/journal.pgen.1002584

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T1 - Genome-wide association and functional follow-up reveals new loci for kidney function

AU - Pattaro, Cristian

AU - Köttgen, Anna

AU - Teumer, Alexander

AU - Garnaas, Maija

AU - Boeger, Carsten A.

AU - Fuchsberger, Christian

AU - Olden, Matthias

AU - Chen, Ming-Huei

AU - Tin, Adrienne

AU - Taliun, Daniel

AU - Li, Man

AU - Gao, Xiaoyi

AU - Gorski, Mathias

AU - Yang, Qiong

AU - Hundertmark, Claudia

AU - Foster, Meredith C.

AU - O'Seaghdha, Conall M.

AU - Glazer, Nicole

AU - Isaacs, Aaron

AU - Liu, Ching-Ti

AU - Smith, Albert V.

AU - O'Connell, Jeffrey R.

AU - Struchalin, Maksim

AU - Tanaka, Toshiko

AU - Li, Guo

AU - Johnson, Andrew D.

AU - Gierman, Hinco J.

AU - Feitosa, Mary

AU - Hwang, Shih-Jen

AU - Atkinson, Elizabeth J.

AU - Lohman, Kurt

AU - Cornelis, Marilyn C.

AU - Johansson, Asa

AU - Toenjes, Anke

AU - Dehghan, Abbas

AU - Chouraki, Vincent

AU - Holliday, Elizabeth G.

AU - Sorice, Rossella

AU - Kutalik, Zoltan

AU - Lehtimaeki, Terho

AU - Esko, Tonu

AU - Deshmukh, Harshal

AU - Ulivi, Sheila

AU - Chu, Audrey Y.

AU - Murgia, Federico

AU - Trompet, Stella

AU - Imboden, Medea

AU - Colhoun, Helen

AU - Doney, Alex

AU - Palmer, Colin

AU - WTCCC2, CARDIoGRAM Consortium, CARe Consortium, ICBP Consortium

PY - 2012

Y1 - 2012

N2 - 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.

AB - 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.

U2 - 10.1371/journal.pgen.1002584

DO - 10.1371/journal.pgen.1002584

M3 - Article

C2 - 22479191

SN - 1553-7390

VL - 8

SP - -

JO - PLoS Genetics

JF - PLoS Genetics

IS - 3

M1 - e1002584

ER -

Genome-wide association and functional follow-up reveals new loci for kidney function

Abstract

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