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Role of the X Chromosome in Alzheimer Disease Genetics.

Role of the X Chromosome in Alzheimer Disease Genetics. JAMA neurology Belloy, M. E., Le Guen, Y., Stewart, I., Williams, K., Herz, J., Sherva, R., Zhang, R., Merritt, V., Panizzon, M. S., Hauger, R. L., Gaziano, J. M., Logue, M., Napolioni, V., Greicius, M. D. 2024

Abstract

The X chromosome has remained enigmatic in Alzheimer disease (AD), yet it makes up 5% of the genome and carries a high proportion of genes expressed in the brain, making it particularly appealing as a potential source of unexplored genetic variation in AD.To perform the first large-scale X chromosome-wide association study (XWAS) of AD.This was a meta-analysis of genetic association studies in case-control, family-based, population-based, and longitudinal AD-related cohorts from the US Alzheimer's Disease Genetics Consortium, the Alzheimer's Disease Sequencing Project, the UK Biobank, the Finnish health registry, and the US Million Veterans Program. Risk of AD was evaluated through case-control logistic regression analyses. Data were analyzed between January 2023 and March 2024. Genetic data available from high-density single-nucleotide variant microarrays and whole-genome sequencing and summary statistics for multitissue expression and protein quantitative trait loci available from published studies were included, enabling follow-up genetic colocalization analyses. A total of 1?629?863 eligible participants were selected from referred and volunteer samples, 477?596 of whom were excluded for analysis exclusion criteria. The number of participants who declined to participate in original studies was not available.Risk of AD, reported as odds ratios (ORs) with 95% CIs. Associations were considered at X chromosome-wide (P?

View details for DOI 10.1001/jamaneurol.2024.2843

View details for PubMedID 39250132