Many AD pQTLs in CSF were enriched in neuroimmune activation, suggesting a genetic basis for neuroimmune dysregulation in AD, and how genetic variation shapes protein expression in the central nervous system is highlighted.
L. Reus, Chen-Yang Jiang, N. Vilor-Tejedor et al.· Molecular Neurodegeneration...· 0 citations
Understanding of the genetic architecture of AD in the context of its main genetic driver is improved, and APOE-stratified insights may help understand and overcome side effects, inform clinical trial enrollment strategies, and create the scientific basis for targeted, mechanism-driven therapies in neurodegenerative di...
J. Thomassen, H. Leonard, Brittany Ulms et al.· Nature Genetics· 0 citations
It is concluded that rare coding CNVs in a proportion of AD-associated genes and 22q11.21 duplication as a strong AD-risk-decreasing factor increase AD risk and Conversely, 22q11.21 duplication as a strong AD-risk-decreasing factor is identified.
O. Quenez, Catherine Schramm, K. Cassinari et al.· American Journal of Human Ge...· 1 citation
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