Hyun-Sik Yang

Sep 20, 2024 | nature.com | Shannon L. Risacher |Paula J Bice |Jared Brosch |Kelley Faber |Martin R Farlow |Tatiana Foroud | +29 more

AbstractDetermining the genetic architecture of Alzheimer’s disease pathologies can enhance mechanistic understanding and inform precision medicine strategies. Here, we perform a genome-wide association study of cortical tau quantified by positron emission tomography in 3046 participants from 12 independent studies. The CYP1B1-RMDN2 locus is associated with tau deposition.

Nov 30, 2023 | nature.com | Hyun-Sik Yang |Vilas Menon |Hilary Finucane |Hans-Ulrich Klein |Lori B. Chibnik |Julie Schneider | +1 more

AbstractMany of the Alzheimer’s disease (AD) risk genes are specifically expressed in microglia and astrocytes, but how and when the genetic risk localizing to these cell types contributes to AD pathophysiology remains unclear. Here, we derive cell-type-specific AD polygenic risk scores (ADPRS) from two extensively characterized datasets and uncover the impact of cell-type-specific genetic risk on AD endophenotypes.

Jun 19, 2023 | nature.com | Dylan Lee |Feng Zhang |Esti Yeger-Lotem |Hyun-Sik Yang |Aviv Regev |Vilas Menon | +1 more

AbstractThe role of different cell types and their interactions in Alzheimer’s disease (AD) is a complex and open question. Here, we pursued this question by assembling a high-resolution cellular map of the aging frontal cortex using single-nucleus RNA sequencing of 24 individuals with a range of clinicopathologic characteristics.

Apr 5, 2023 | nature.com | Hyun-Sik Yang |Kaj Blennow |Oskar Hansson |Henrik Zetterberg |Maxime Van Egroo |Joost M. Riphagen

AbstractAutopsy data indicate that the locus coeruleus (LC) is one of the first sites in the brain to accumulate hyperphosphorylated tau pathology, with the rostral part possibly being more vulnerable in the earlier stages of the disease.