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(2024):
X‐chromosome-wide association study for Alzheimer’s disease.
In: Molecular Psychiatry [Forthcoming]
[PDF, 4MB]
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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 X-Chromosome-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.
| Dokumententyp: | Zeitschriftenartikel |
|---|---|
| Fakultät: | Medizin > Munich Cluster for Systems Neurology (SyNergy)
Medizin > Institut für Schlaganfall- und Demenzforschung (ISD) Medizin > Klinikum der LMU München > Neurochirurgische Klinik und Poliklinik |
| Themengebiete: | 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit |
| URN: | urn:nbn:de:bvb:19-epub-123291-8 |
| ISSN: | 1359-4184 |
| Bemerkung: | Published online: 04 December 2024 |
| Sprache: | Englisch |
| Dokumenten ID: | 123291 |
| Datum der Veröffentlichung auf Open Access LMU: | 23. Dez. 2024 12:20 |
| Letzte Änderungen: | 23. Dez. 2024 12:20 |
| DFG: | Gefördert durch die Deutsche Forschungsgemeinschaft (DFG) - 390857198 |
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