Genetics of posterior cortical atrophy
This study investigated the association of genetic risk factors for late-onset Alzheimer's disease with risk of posterior cortical atrophy. Posterior cortical atrophy is a syndrome of visual impairment with predominant Alzheimer's disease pathology in posterior cortical regions with risk of posterior Alzheimer's disease neuropathology.
Our lab assessed participants with posterior cortical atrophy diagnosed clinically (antemortem) or with neuropathologic diagnosis of posterior Alzheimer's disease (postmortem neuropathologic diagnosis of posterior cortical atrophy) versus controls for association with single nucleotide polymorphisms from published late-onset Alzheimer's disease risk genome-wide association studies.
The lab identified a significant effect for apolipoprotein E and nominated CLU, BIN1 and ABCA7 as additional risk loci for posterior cortical atrophy and posterior Alzheimer's disease. These findings suggest that at least some of the genetic risk factors for late-onset Alzheimer's disease are shared with these atypical conditions and provide effect-size estimates for their future genetic studies.
Our lab is analyzing the effect on posterior cortical atrophy and posterior Alzheimer's disease of variants at additional Alzheimer's disease risk loci identified by large-scale, late-onset Alzheimer's disease genome-wide association studies.
Related publications
- Carrasquillo MM, Crook JE, Pedraza O, Thomas CS, Pankratz VS, Allen M, Nguyen T, Malphrus K, Li M, Bisceglio G, Roberts RO, Lucas JA, Smith GE, Ivnik RJ, Machulda MM, Graff-Radford NR, Petersen RC, Younkin SG, Ertekin-Taner N. Late-onset Alzheimer's risk variants in memory decline, incident mild cognitive impairment, and Alzheimer's disease. Neurobiology. 2015.
- Carrasquillo MM, ul Ain Khan Q, Murray ME, Krishnan S, Aakre J, Pankratz V, Nguyen T, Li M, Bisceglio G, Petersen RC, Younkin SG, Dickson DW, Boeve BF, Graff-Radford NR, Ertekin-Taner N. Late-onset Alzheimer disease genetic variants in posterior cortical atrophy and posterior AD. Neurology. 2014.