A loss of function variant in CASP7 protects against Alzheimer's disease in homozygous APOE ε4 allele carriers.

ABSTRACT:

Background

Alzheimer's disease (AD) represents the most common form of dementia in elder populations with approximately 30 million cases worldwide. Genome wide genotyping and sequencing studies have identified many genetic variants associated with late-onset Alzheimer's disease (LOAD). While most of these variants are associated with increased risk of developing LOAD, only limited number of reports focused on variants that are protective against the disease.

Methods

Here we applied a novel approach to uncover protective alleles against AD by analyzing genetic and phenotypic data in Mount Sinai Biobank and Electronic Medical Record (EMR) databases.

Results

We discovered a likely loss-of-function small deletion variant in the caspase 7 (CASP7) gene associated with signi

SUBMITTER: Ayers KL 

PROVIDER: S-EPMC4928152 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature