Alzheimer’s disease


Alzheimer’s disease (AD) is a neurodegenerative disorder and it is usually prevalent in individuals over 65 years. The development of AD are influenced by age and genetic factors. Genome-wide association studies (GWASs) has identified 20 loci that increases the risk for AD. (add more)
The aim of this study was to identify rare and low frequency coding variants in BIN1, CLU, CR1, PICALM, MS4A6A, ABCA7, EPHA1, CD33, and CD2AP and analyze their single independent and combined effect on AD susceptibility using exome and genome sequencing data. This was done in a cohort of 332 sporadic cases and 676 elderly controls from the United kingdom and North America. They performed gene based analysis (SNP-set Sequence Kernel Association Test SKAT and c-alpha tests) and single variant association analysis.
There were 289 single nucleotide variants identified. ABCA7 was identified as a coding variability associated with AD risk. It was the only significant hit in the C-alpha test and low frequency coding variant.