MAPT rs242557 variant: a driver from early to late mild cognitive impairment

This study comprehensively evaluated the effects of the rs242557 variant on AD as well as other stages. 856 human subjects were identified from the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort. The effect of the rs242557 variant on cognitive impairment was first assessed.

Subjects with the variant had more severe cognitive impairment than subjects without the variant in early mild cognitive impairment (EMCI). We then analyzed neuronal loss and tau aggregation by comparing hippocampal volume and standardised uptake value ratios (SUVRs) of the tau PET tracer 18F-AV1451 in the hippocampus between rs242557 variant carriers and non‐carriers. The results suggest that rs242557 variant accelerates the progression of EMCI (hippocampal volume: left β: -0.107, p = 0.218; right β: -0.121, p = 0.145) (hippocampal 18F-AV1451: left β: 0.186, p = 0.036; right β: 0.198, p = 0.022) to late mild cognitive impairment (LMCI) (hippocampal volume: left β: -0.296, p = 0.002; right β: -0.264, p = 0.004) (hippocampal 18F-AV1451: left β: 0.358, p = 0.000; right β: 0.343, p = 0.000).