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New genetic variants for chronic kidney disease identified

February 7, 2024
Universität Leipzig
Scientists have identified new genes that may play a role in chronic kidney disease. They analyzed data from more than 900,000 people and found effects that in some cases differed between men and women.

Approximately ten per cent of the world's population currently suffers from chronic kidney disease (CKD). This puts people at increased risk of kidney failure, cardiovascular disease and hospitalisation -- and places a heavy burden on the healthcare system. Due to the demographic changes of an ageing population, it is predicted that CKD could become one of the five leading causes of death worldwide by 2040.

In a large-scale study, scientists from Leipzig University, in collaboration with other international study groups, investigated genetic associations between variants of the X chromosome and seven selected parameters of kidney function in men and women. The study was based on blood samples and genetic information from a total of more than 900,000 people, 80 per cent of whom were of European descent.

"We identified a total of 23 associations: 16 relate to the estimated glomerular filtration rate of the kidney and seven to uric acid," explains study leader Professor Markus Scholz from the Institute for Medical Informatics, Statistics and Epidemiology (IMISE) at Leipzig University. Along with uric acid, glomerular filtration rate is a key measure of kidney health. It shows how much blood the glomeruli -- small vessels in the kidney tissue -- can filter per unit of time.

The researchers found different effects in men and women at six positions in the genome. The scientists were able to assign functionally plausible candidate genes to the newly discovered genetic effects. "The sex-specific differences could be explained by hormonal regulation of the associated genes," reports study analyst Katrin Horn from IMISE. "This finding helps us to better understand possible mechanisms of disease development and progression," says Professor Markus Scholz: "For example, we already know that the disease is more common in women, but progresses faster in men. We now have suitable mechanisms to investigate these phenomena further."

In their analysis of X-chromosomal variants, the Leipzig scientists looked at mutations at around 270,000 positions on the chromosome and correlated these with the clinical kidney parameters. They also used tissue data to check whether and how the genetic information was actually used. A targeted search for differences between the sexes was carried out.

"We deliberately chose to analyse the more complicated X chromosome, which has not yet been sufficiently investigated in terms of genetic associations despite being very promising with regard to sex-specific differences in diseases," says bioinformatics researcher Professor Scholz. "The reason for this is that women have two of these chromosomes, but the genetic information is only partially utilised and it is not exactly understood in what way and to what extent this happens."

The method that Professor Scholz and his team have developed for this study to analyse the X chromosome in detail and identify sex-specific differences can also be used by other research teams in the future to contribute to sex-sensitive medicine for other diseases.

The study was part of the international CKDGen consortium for research into the genetics of kidney disease, which is led by Professor Anna Köttgen of the University of Freiburg, with Leipzig University as a key partner. It included data from the Leipzig studies LIFE Heart, LIFE Adult, LIFE Child and the Sorb Study, from a total of approximately 14,000 data records. The bulk of the analysis and interpretation of the data was carried out by Professor Scholz's research group.

Story Source:

Materials provided by Universität Leipzig. Original written by Birgit Pfeiffer. Note: Content may be edited for style and length.

Journal Reference:

  1. Markus Scholz, Katrin Horn, Janne Pott, Matthias Wuttke, Andreas Kühnapfel, M. Kamal Nasr, Holger Kirsten, Yong Li, Anselm Hoppmann, Mathias Gorski, Sahar Ghasemi, Man Li, Adrienne Tin, Jin-Fang Chai, Massimiliano Cocca, Judy Wang, Teresa Nutile, Masato Akiyama, Bjørn Olav Åsvold, Nisha Bansal, Mary L. Biggs, Thibaud Boutin, Hermann Brenner, Ben Brumpton, Ralph Burkhardt, Jianwen Cai, Archie Campbell, Harry Campbell, John Chalmers, Daniel I. Chasman, Miao Ling Chee, Miao Li Chee, Xu Chen, Ching-Yu Cheng, Renata Cifkova, Martha Daviglus, Graciela Delgado, Katalin Dittrich, Todd L. Edwards, Karlhans Endlich, J. Michael Gaziano, Ayush Giri, Franco Giulianini, Scott D. Gordon, Daniel F. Gudbjartsson, Stein Hallan, Pavel Hamet, Catharina A. Hartman, Caroline Hayward, Iris M. Heid, Jacklyn N. Hellwege, Bernd Holleczek, Hilma Holm, Nina Hutri-Kähönen, Kristian Hveem, Berend Isermann, Jost B. Jonas, Peter K. Joshi, Yoichiro Kamatani, Masahiro Kanai, Mika Kastarinen, Chiea Chuen Khor, Wieland Kiess, Marcus E. Kleber, Antje Körner, Peter Kovacs, Alena Krajcoviechova, Holly Kramer, Bernhard K. Krämer, Mikko Kuokkanen, Mika Kähönen, Leslie A. Lange, James P. Lash, Terho Lehtimäki, Hengtong Li, Bridget M. Lin, Jianjun Liu, Markus Loeffler, Leo-Pekka Lyytikäinen, Patrik K. E. Magnusson, Nicholas G. Martin, Koichi Matsuda, Yuri Milaneschi, Pashupati P. Mishra, Nina Mononen, Grant W. Montgomery, Dennis O. Mook-Kanamori, Josyf C. Mychaleckyj, Winfried März, Matthias Nauck, Kjell Nikus, Ilja M. Nolte, Raymond Noordam, Yukinori Okada, Isleifur Olafsson, Albertine J. Oldehinkel, Brenda W. J. H. Penninx, Markus Perola, Nicola Pirastu, Ozren Polasek, David J. Porteous, Tanja Poulain, Bruce M. Psaty, Ton J. Rabelink, Laura M. Raffield, Olli T. Raitakari, Humaira Rasheed, Dermot F. Reilly, Kenneth M. Rice, Anne Richmond, Paul M. Ridker, Jerome I. Rotter, Igor Rudan, Charumathi Sabanayagam, Veikko Salomaa, Neil Schneiderman, Ben Schöttker, Mario Sims, Harold Snieder, Klaus J. Stark, Kari Stefansson, Hannah Stocker, Michael Stumvoll, Patrick Sulem, Gardar Sveinbjornsson, Per O. Svensson, E-Shyong Tai, Kent D. Taylor, Bamidele O. Tayo, Andrej Teren, Yih-Chung Tham, Joachim Thiery, Chris H. L. Thio, Laurent F. Thomas, Johanne Tremblay, Anke Tönjes, Peter J. van der Most, Veronique Vitart, Uwe Völker, Ya Xing Wang, Chaolong Wang, Wen Bin Wei, John B. Whitfield, Sarah H. Wild, James F. Wilson, Thomas W. Winkler, Tien-Yin Wong, Mark Woodward, Xueling Sim, Audrey Y. Chu, Mary F. Feitosa, Unnur Thorsteinsdottir, Adriana M. Hung, Alexander Teumer, Nora Franceschini, Afshin Parsa, Anna Köttgen, Pascal Schlosser, Cristian Pattaro. X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements. Nature Communications, 2024; 15 (1) DOI: 10.1038/s41467-024-44709-1

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Universität Leipzig. "New genetic variants for chronic kidney disease identified." ScienceDaily. ScienceDaily, 7 February 2024. <>.
Universität Leipzig. (2024, February 7). New genetic variants for chronic kidney disease identified. ScienceDaily. Retrieved February 25, 2024 from
Universität Leipzig. "New genetic variants for chronic kidney disease identified." ScienceDaily. (accessed February 25, 2024).

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