Genome-wide association study of brain biochemical phenotypes reveals distinct genetic architecture of Alzheimer's disease related proteins.
Stephanie R OatmanJoseph S ReddyZachary QuicksallMinerva M CarrasquilloXue WangChia-Chen LiuYu YamazakiThuy T NguyenKimberly MalphrusMichael HeckmanKristi BiswasKwangsik NhoMatthew BakerYuka A MartensNa ZhaoJun Pyo KimShannon L RisacherRosa RademakersAndrew J SaykinMichael DeTureMelissa E MurrayTakahisa Kanekiyonull nullDennis W DicksonGuojun BuMariet AllenNilüfer Ertekin-TanerPublished in: Molecular neurodegeneration (2023)
Although all biochemical measures tested reflect proteins core to AD pathology, our results strongly suggest that each have unique genetic architecture and biological pathways that influence their specific biochemical states in the brain. Our novel approach of deep brain biochemical endophenotype GWAS has implications for pathophysiology of proteostasis in AD that can guide therapeutic discovery efforts focused on these proteins.