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| 001 | 278795 | ||
| 005 | 20250604100730.0 | ||
| 024 | 7 | _ | |a 10.1038/s41380-024-02838-5 |2 doi |
| 024 | 7 | _ | |a pmid:39633006 |2 pmid |
| 024 | 7 | _ | |a pmc:PMC12092188 |2 pmc |
| 024 | 7 | _ | |a 1359-4184 |2 ISSN |
| 024 | 7 | _ | |a 1476-5578 |2 ISSN |
| 037 | _ | _ | |a DZNE-2025-00631 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Le Borgne, Julie |b 0 |
| 245 | _ | _ | |a X-chromosome-wide association study for Alzheimer's disease. |
| 260 | _ | _ | |a [London] |c 2025 |b Springer Nature |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1748946634_16670 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a 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. |
| 536 | _ | _ | |a 353 - Clinical and Health Care Research (POF4-353) |0 G:(DE-HGF)POF4-353 |c POF4-353 |f POF IV |x 0 |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, , Journals: pub.dzne.de |
| 650 | _ | 2 | |a Humans |2 MeSH |
| 650 | _ | 2 | |a Alzheimer Disease: genetics |2 MeSH |
| 650 | _ | 2 | |a Genome-Wide Association Study: methods |2 MeSH |
| 650 | _ | 2 | |a Female |2 MeSH |
| 650 | _ | 2 | |a Chromosomes, Human, X: genetics |2 MeSH |
| 650 | _ | 2 | |a Male |2 MeSH |
| 650 | _ | 2 | |a Genetic Predisposition to Disease: genetics |2 MeSH |
| 650 | _ | 2 | |a Polymorphism, Single Nucleotide: genetics |2 MeSH |
| 650 | _ | 2 | |a Aged |2 MeSH |
| 650 | _ | 2 | |a X Chromosome Inactivation: genetics |2 MeSH |
| 650 | _ | 2 | |a Aged, 80 and over |2 MeSH |
| 650 | _ | 2 | |a Case-Control Studies |2 MeSH |
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| 700 | 1 | _ | |a Choi, Seung Hoan |b 5 |
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| 700 | 1 | _ | |a Grenier-Boley, Benjamin |b 7 |
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| 773 | _ | _ | |a 10.1038/s41380-024-02838-5 |g Vol. 30, no. 6, p. 2335 - 2346 |0 PERI:(DE-600)1502531-7 |n 6 |p 2335 - 2346 |t Molecular psychiatry |v 30 |y 2025 |x 1359-4184 |
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| Library | Collection | CLSMajor | CLSMinor | Language | Author |
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