Accès ouvert déclaré
2024
article
Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies
Anny H. Xiang, A. Mahajan, Esteban Juan Parra, Jeffrey J. Damman, Cecilia M. Lindgren, Johan Ärnlöv, G.J. Papanicolaou, Elena Sánchez, Charles L Kooperberg, Harold Snieder, J.B. Whitfield, Holger Stark, Jacqualyn F. Eales, Benjamin D. Humphreys, Susan Halloran Blanton, Nicole Dueker, Y. Kamatani, S.S. Rich, A P Morris, Ralph L. Sacco, A.M. Stilp, Jianwen Cai, Xiuqing Guo, Pauling Chu, G.W. Montgomery, Thomas A. Buchanan, Eli Ipp, Thu H. Le, Martin H. de Borst, Ali G. Gharavi, Y.-D.I. Chen, J.P. Cook, Aleksandra Živković, G.N. Nadkarni, Artur Akbarov, K.J. Gaulton, C.C. Laurie, Hao Wu, N.G. Martin, Yohei Okada, Krzysztof Kiryluk, Johan Sundström, Vilmantas Giedraitis, Tatjana Rundek, Nora Franceschini, Sylvia Cechova, K. Matsuda, Maciej Tomaszewski, Holly Kramer, Gibran Hemani, Miguel Cruz, Adán Valladares‐Salgado, Yanqin Lu, Peter J. van der Most, Michiaki Kubo, Lars Lind, Josyf C. Mychaleckyj, K.D. Taylor, R.J.F. Loos, Pamela AF Madden, Leslie J. Raffel, George Davey Smith, Y. Hai, Niels H. Wacher-Rodarte, Andrew C. Heath, Fadi Joseph Charchar, E.P. Bottinger, Gu Zhu, J.I. Rotter, J. Haessler, Anders Olof Larsson, E. Ingelsson
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Le résumé fourni par la source
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.
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Les sujets associés
Birth, Development, and Health