dc.contributor.author | Scholz, Markus | |
dc.contributor.author | Horn, Katrin | |
dc.contributor.author | pott, janne | |
dc.contributor.author | Wuttke, Matthias | |
dc.contributor.author | Hallan, Stein Ivar | |
dc.contributor.author | Schlosser, Pascal | |
dc.contributor.author | Pattaro, Cristian | |
dc.contributor.author | Åsvold, Bjørn Olav | |
dc.contributor.author | Brumpton, Ben Michael | |
dc.contributor.author | Hveem, Kristian | |
dc.contributor.author | Thomas, Laurent Francois | |
dc.contributor.author | Rasheed, Humaira | |
dc.date.accessioned | 2024-02-22T10:26:22Z | |
dc.date.available | 2024-02-22T10:26:22Z | |
dc.date.created | 2024-01-24T08:07:44Z | |
dc.date.issued | 2024 | |
dc.identifier.citation | Nature Communications. 2024, 15:586 (1), 1-17. | en_US |
dc.identifier.issn | 2041-1723 | |
dc.identifier.uri | https://hdl.handle.net/11250/3119274 | |
dc.description.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. | en_US |
dc.language.iso | eng | en_US |
dc.publisher | Nature | en_US |
dc.rights | Navngivelse 4.0 Internasjonal | * |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/deed.no | * |
dc.title | 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 | en_US |
dc.title.alternative | 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 | en_US |
dc.type | Peer reviewed | en_US |
dc.type | Journal article | en_US |
dc.description.version | publishedVersion | en_US |
dc.source.pagenumber | 1-17 | en_US |
dc.source.volume | 15:586 | en_US |
dc.source.journal | Nature Communications | en_US |
dc.source.issue | 1 | en_US |
dc.identifier.doi | 10.1038/s41467-024-44709-1 | |
dc.identifier.cristin | 2233352 | |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 2 | |