Scholz, Markus and Horn, Katrin and Pott, Janne and Wuttke, Matthias and Kuehnapfel, Andreas and Nasr, M. Kamal and Kirsten, Holger and Li, Yong and Hoppmann, Anselm and Gorski, Mathias and Ghasemi, Sahar and Li, Man and Tin, Adrienne and Chai, Jin-Fang and Cocca, Massimiliano and Wang, Judy and Nutile, Teresa and Akiyama, Masato and Asvold, Bjorn Olav and Bansal, Nisha and Biggs, Mary L. and Boutin, Thibaud and Brenner, Hermann and Brumpton, Ben and Burkhardt, Ralph and Cai, Jianwen and Campbell, Archie and Campbell, Harry and Chalmers, John and Chasman, Daniel and Chee, Miao Ling and Li Chee, Miao and Chen, Xu and Cheng, Ching-Yu and Cifkova, Renata and Daviglus, Martha and Delgado, Graciela and Dittrich, Katalin and Edwards, Todd L. and Endlich, Karlhans and Gaziano, J. Michael and Giri, Ayush and Giulianini, Franco and Gordon, Scott D. and Gudbjartsson, Daniel F. and Hallan, Stein and Hamet, Pavel and Hartman, Catharina A. and Hayward, Caroline and Heid, Iris M. and Hellwege, Jacklyn N. and Holleczek, Bernd and Holm, Hilma and Hutri-Kahonen, Nina and Hveem, Kristian and Isermann, Berend and Jonas, Jost B. and Joshi, Peter K. and Kamatani, Yoichiro and Kanai, Masahiro and Kastarinen, Mika and Khor, Chiea Chuen and Kiess, Wieland and Kleber, Marcus E. and Koerner, Antje and Kovacs, Peter and Krajcoviechova, Alena and Kramer, Holly and Kraemer, Bernhard K. and Kuokkanen, Mikko and Kahonen, Mika and Lange, Leslie A. and Lash, James P. and Lehtimaki, Terho and Li, Hengtong and Lin, Bridget M. and Liu, Jianjun and Loeffler, Markus and Lyytikainen, Leo-Pekka and Magnusson, Patrik K. E. and Martin, Nicholas G. and Matsuda, Koichi and Milaneschi, Yuri and Mishra, Pashupati P. and Mononen, Nina and Montgomery, Grant W. and Mook-Kanamori, Dennis O. and Mychaleckyj, Josyf C. and Marz, Winfried and Nauck, Matthias and Nikus, Kjell and Nolte, Ilja M. and Noordam, Raymond and Okada, Yukinori and Olafsson, Isleifur and Oldehinkel, Albertine J. and Penninx, Brenda W. J. H. and Perola, Markus and Pirastu, Nicola and Polasek, Ozren and Porteous, David J. and Poulain, Tanja and Psaty, Bruce M. and Rabelink, Ton J. and Raffield, Laura M. and Raitakari, Olli T. and Rasheed, Humaira and Reilly, Dermot F. and Rice, Kenneth M. and Richmond, Anne and Ridker, Paul M. and Rotter, Jerome and Rudan, Igor and Sabanayagam, Charumathi and Salomaa, Veikko and Schneiderman, Neil and Schottker, Ben and Sims, Mario and Snieder, Harold and Stark, Klaus J. and Stefansson, Kari and Stocker, Hannah and Stumvoll, Michael and Sulem, Patrick and Sveinbjornsson, Gardar and Svensson, Per O. and Tai, E-Shyong and Taylor, Kent D. and Tayo, Bamidele O. and Teren, Andrej and Tham, Yih-Chung and Thiery, Joachim and Thio, Chris H. L. and Thomas, Laurent F. and Tremblay, Johanne and Toenjes, Anke and van der Most, Peter J. and Vitart, Veronique and Voelker, Uwe and Wang, Ya Xing and Wang, Chaolong and Wei, Wen Bin and Whitfield, John B. and Wild, Sarah H. and Wilson, James F. and Winkler, Thomas W. and Wong, Tien-Yin and Woodward, Mark and Sim, Xueling and Chu, Audrey Y. and Feitosa, Mary F. and Thorsteinsdottir, Unnur and Hung, Adriana M. and Teumer, Alexander and Franceschini, Nora and Parsa, Afshin and Kottgen, Anna and Schlosser, Pascal and Pattaro, Cristian (2024) 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, 15 (1). ISSN , 2041-1723
Full text not available from this repository. (Request a copy)Abstract
X-chromosomal genetic variants are understudied but can yield valuable insights into sexually dimorphic human traits and diseases. We performed a sex-stratified cross-ancestry X-chromosome-wide association meta-analysis of seven kidney-related traits (n= 908,697), identifying 23 loci genome-wide significantly associated with two of the traits: 7 for uric acid and 16 for estimated glomerular filtration rate (eGFR), including four novel eGFR loci containing the functionally plausible prioritized genes ACSL4, CLDN2, TSPAN6 and the female-specific DRP2. Further, we identified five novel sex-interactions, comprising male-specific effects at FAM9B and AR/EDA2R, and three sex-differential findings with larger genetic effect sizes in males at DCAF12L1 and MST4 and larger effect sizes in females at HPRT1. All prioritized genes in loci showing significant sex-interactions were located next to androgen response elements (ARE). Five ARE genes showed sex-differential expressions. This study contributes new insights into sex-dimorphisms of kidney traits along with new prioritized gene targets for further molecular research.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | GENOME-WIDE ASSOCIATION; DISEASE; MEN; TESTOSTERONE; DISCOVERY; BINDING; ISSUES; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin Medicine > Institut für Epidemiologie und Präventivmedizin > Lehrstuhl für Genetische Epidemiologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 24 Jul 2025 09:36 |
| Last Modified: | 24 Jul 2025 09:36 |
| URI: | https://pred.uni-regensburg.de/id/eprint/65729 |
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