dc.date.accessioned | 2024-03-23T17:54:27Z | |
dc.date.available | 2024-03-23T17:54:27Z | |
dc.date.created | 2024-01-24T08:07:44Z | |
dc.date.issued | 2024 | |
dc.identifier.citation | Scholz, Markus Horn, Katrin pott, janne Wuttke, Matthias Hallan, Stein Ivar Schlosser, Pascal Pattaro, Cristian Åsvold, Bjørn Olav Brumpton, Ben Michael Hveem, Kristian Thomas, Laurent Francois Rasheed, Humaira . 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, 15:586(1), 1-17 | |
dc.identifier.uri | http://hdl.handle.net/10852/110082 | |
dc.description.abstract | 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. | |
dc.language | EN | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | |
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 | |
dc.title.alternative | ENEngelskEnglishX-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 | |
dc.type | Journal article | |
dc.creator.author | Scholz, Markus | |
dc.creator.author | Horn, Katrin | |
dc.creator.author | pott, janne | |
dc.creator.author | Wuttke, Matthias | |
dc.creator.author | Hallan, Stein Ivar | |
dc.creator.author | Schlosser, Pascal | |
dc.creator.author | Pattaro, Cristian | |
dc.creator.author | Åsvold, Bjørn Olav | |
dc.creator.author | Brumpton, Ben Michael | |
dc.creator.author | Hveem, Kristian | |
dc.creator.author | Thomas, Laurent Francois | |
dc.creator.author | Rasheed, Humaira | |
cristin.unitcode | 185,53,18,0 | |
cristin.unitname | Klinikk for laboratoriemedisin | |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 2 | |
dc.identifier.cristin | 2233352 | |
dc.identifier.bibliographiccitation | info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Nature Communications&rft.volume=15:586&rft.spage=1&rft.date=2024 | |
dc.identifier.jtitle | Nature Communications | |
dc.identifier.volume | 15 | |
dc.identifier.issue | 1 | |
dc.identifier.doi | https://doi.org/10.1038/s41467-024-44709-1 | |
dc.type.document | Tidsskriftartikkel | |
dc.type.peerreviewed | Peer reviewed | |
dc.source.issn | 2041-1723 | |
dc.type.version | PublishedVersion | |
cristin.articleid | 586 | |