@article{10902/37460,
year = {2025},
url = {https://hdl.handle.net/10902/37460},
abstract = {Due to methodological reasons, the X-chromosome has not been featured in the major genome-wide association studies on Alzheimer’s Disease (AD). To address this and better characterize the genetic landscape of AD, we performed an in-depth XChromosome-Wide Association Study (XWAS) in 115,841 AD cases or AD proxy cases, including 52,214 clinically-diagnosed AD cases, and 613,671 controls. We considered three approaches to account for the different X-chromosome inactivation (XCI) states in females, i.e. random XCI, skewed XCI, and escape XCI. We did not detect any genome-wide significant signals (P ≤ 5 × 10−8) but identified seven X-chromosome-wide significant loci (P ≤ 1.6 × 10−6). The index variants were common for the Xp22.32, FRMPD4, DMD and Xq25 loci, and rare for the WNK3, PJA1, and DACH2 loci. Overall, this well-powered XWAS found no genetic risk factors for AD on the non pseudoautosomal region of the X-chromosome, but it identified suggestive signals warranting further investigations.},
publisher = {Nature Publishing Group},
publisher = {Molecular Psychiatry, 2025, 30(6), 2335-2346},
title = {X-chromosome-wide association study for Alzheimer's disease},
author = {Le Borgne, Julie and Gomez, Lissette and Heikkinen, Sami and Amin, Najaf and Ahmad, Shahzad and Choi, Seung Hoan and Bis, Joshua and Grenier-Boley, Benjamin and Rodriguez, Omar Garcia and Kleineidam, Luca and Young, Juan and Tripathi, Kumar Parijat and Wang, Lily and Varma, Achintya and Campos-Martin, Rafael and Van der Lee, Sven and Damotte, Vincent and De Rojas, Itziar and Palmal, Sagnik and Rodríguez Rodríguez, Eloy Manuel},
}