Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease.

ABSTRACT:

Objective

To identify genetic variation influencing late-onset Alzheimer disease (LOAD), we used a large data set of non-Hispanic white (NHW) extended families multiply-affected by LOAD by performing whole genome sequencing (WGS).

Methods

As part of the Alzheimer Disease Sequencing Project, WGS data were generated for 197 NHW participants from 42 families (affected individuals and unaffected, elderly relatives). A two-pronged approach was taken. First, variants were prioritized using heterogeneity logarithm of the odds (HLOD) and family-specific LOD scores as well as annotations based on function, frequency, and segregation with disease. Second, known Alzheimer disease (AD) candidate genes were assessed for rare variation using a family-based association test.

Results

SUBMITTER: Beecham GW 

PROVIDER: S-EPMC6278241 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature