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000278795 0247_ $$2ISSN$$a1476-5578
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000278795 1001_ $$aLe Borgne, Julie$$b0
000278795 245__ $$aX-chromosome-wide association study for Alzheimer's disease.
000278795 260__ $$a[London]$$bSpringer Nature$$c2025
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000278795 520__ $$aDue to methodological reasons, the X-chromosome has not been featured in the major genome-wide association studies on Alzheimer's Disease (AD). To address this and better characterize the genetic landscape of AD, we performed an in-depth X-Chromosome-Wide Association Study (XWAS) in 115,841 AD cases or AD proxy cases, including 52,214 clinically-diagnosed AD cases, and 613,671 controls. We considered three approaches to account for the different X-chromosome inactivation (XCI) states in females, i.e. random XCI, skewed XCI, and escape XCI. We did not detect any genome-wide significant signals (P ≤ 5 × 10-8) but identified seven X-chromosome-wide significant loci (P ≤ 1.6 × 10-6). The index variants were common for the Xp22.32, FRMPD4, DMD and Xq25 loci, and rare for the WNK3, PJA1, and DACH2 loci. Overall, this well-powered XWAS found no genetic risk factors for AD on the non-pseudoautosomal region of the X-chromosome, but it identified suggestive signals warranting further investigations.
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000278795 650_2 $$2MeSH$$aHumans
000278795 650_2 $$2MeSH$$aAlzheimer Disease: genetics
000278795 650_2 $$2MeSH$$aGenome-Wide Association Study: methods
000278795 650_2 $$2MeSH$$aFemale
000278795 650_2 $$2MeSH$$aChromosomes, Human, X: genetics
000278795 650_2 $$2MeSH$$aMale
000278795 650_2 $$2MeSH$$aGenetic Predisposition to Disease: genetics
000278795 650_2 $$2MeSH$$aPolymorphism, Single Nucleotide: genetics
000278795 650_2 $$2MeSH$$aAged
000278795 650_2 $$2MeSH$$aX Chromosome Inactivation: genetics
000278795 650_2 $$2MeSH$$aAged, 80 and over
000278795 650_2 $$2MeSH$$aCase-Control Studies
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