A rare variant in MLKL confers susceptibility to ApoE ɛ4-negative Alzheimer’s disease in Hong Kong Chinese population

Alzheimer ’s disease (AD) is the most common neurodegenerative disorders in the elderly. To identify rare genetic factors other than ApoE ɛ4 contributing to the pathogenesis of late-onset AD (LOAD), we conducted a whole-exome analysis of 246 ApoE ɛ4-negative LOAD cases and 172 matched controls in Hong Kon g Chinese population. LOAD patients showed a significantly higher burden of rare loss-of-function variants in genes related to immune function than healthy controls. Among the genes involved in immune function, we identified a rare stop-gain variant (p.Q48X) in MLKL gene present exclusively in 6 LOA D cases.

Source: Neurobiology of Aging - March 9, 2018 Category: Neuroscience Authors: Binbin Wang, Suying Bao, Zhigang Zhang, Xueya Zhou, Jing Wang, Yanhui Fan, Yan Zhang, Yan Li, Luhua Chen, Yizhen Jia, Jiang Li, Miaoxin Li, Wenhua Zheng, Nan Mu, Liqiu Wang, Zhe Yu, Dana SM. Wong, Yalun Zhang, Joseph Kwan, Henry Ka-Fung Mak, Amirthagowri Source Type: research