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Genome-wide association study of diabetic kidney disease highlights biology involved in renal basement membrane collagen
By
Rany M. Salem,
Jennifer N Todd,
Niina Sandholm,
Joanne B. Cole,
Wei-Min Chen,
Darrel Andrews,
Marcus G Pezzolesi,
Paul M. McKeigue,
Linda T Hiraki,
Chengxiang Qiu,
Viji Nair,
Chen Di Liao,
Jing Jing Cao,
Erkka Valo,
Suna Onengut-Gumuscu,
Adam M Smiles,
Stuart J. McGurnaghan,
Jani K Haukka,
Valma Harjutsalo,
Eoin P Brennan,
Natalie van Zuydam,
Emma Ahlqvist,
Ross Doyle,
Tarunveer S. Ahluwalia,
Maria Lajer,
Maria F Hughes,
Jihwan Park,
Jan Skupien,
Athina Spiliopoulou,
Andrew Liu,
Rajasree Menon,
Carine M Boustany-Kari,
Hyun M Kang,
Robert G Nelson,
Ronald Klein,
Barbara E Klein,
Kristine E Lee,
Xiaoyu Gao,
Michael Mauer,
Silvia Maeastroni,
Maria Luiza Caramori,
Ian H. de Boer,
Rachel G Miller,
Jingchuan Guo,
Andrew P Boright,
David Tregouet,
Beata Gyorgy,
Janet K Snell-Bergeon,
David M Maahs,
Shelley B Bull,
Angelo J. Canty,
Colin N.A. Palmer,
Lars Stechemesser,
Bernhard Paulweber,
Raimund Weitgasser,
Jelizaveta Sokolovska,
Vita Rovīte,
Valdis Pīrāgs,
Edita Prakapiene,
Lina Radzeviciene,
Rasa Verkauskiene,
Nicolae Mircea Panduru,
Leif C Groop,
Mark I McCarthy,
Harvest F Gu,
Anna Möllsten,
Henrik Falhammar,
Kerstin Brismar,
GENIE Consortium,
DCCT/EDIC Research Group,
SUMMIT Consortium,
Finian Martin,
Peter Rossing,
Tina Costacou,
Gianpaolo Zerbini,
Michel Marre,
Samy Hadjadj,
Amy J McKnight,
Carol Forsblom,
Gareth McKay,
Catherine Godson,
A. Peter Maxwell,
Matthias Kretzler,
Katalin Susztak,
Helen M. Colhoun,
Andrzej Krolewski,
Andrew D. Paterson,
Per-Henrik Groop,
Stephen S. Rich,
Joel N. Hirschhorn,
Jose C Florez
Posted 19 Dec 2018
bioRxiv DOI: 10.1101/499616
Diabetic kidney disease (DKD) is a heritable but poorly understood complication of diabetes. To identify genetic variants predisposing to DKD, we performed genome-wide association analyses in 19,406 individuals with type 1 diabetes (T1D) using a spectrum of DKD definitions based on albuminuria and renal function. We identified 16 genome-wide significant loci. The variant with the strongest association (rs55703767) is a common missense mutation in the collagen type IV alpha 3 chain (COL4A3) gene, which encodes a major structural component of the glomerular basement membrane (GBM) implicated in heritable nephropathies. The rs55703767 minor allele (Asp326Tyr) is protective against several definitions of DKD, including albuminuria and end-stage renal disease. Three other loci are in or near genes with known or suggestive involvement in DKD (BMP7) or renal biology (COLEC11 and DDR1). The 16 DKD-associated loci provide novel insights into the pathogenesis of DKD, identifying potential biological targets for prevention and treatment.
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