Exome-chip association analysis of intracranial aneurysms.

ABSTRACT:

Objective

To investigate to what extent low-frequency genetic variants (with minor allele frequencies <5%) affect the risk of intracranial aneurysms (IAs).

Methods

One thousand fifty-six patients with IA and 2,097 population-based controls from the Netherlands were genotyped with the Illumina HumanExome BeadChip. After quality control (QC) of samples and single nucleotide variants (SNVs), we conducted a single variant analysis using the Fisher exact test. We also performed the variable threshold (VT) test and the sequence kernel association test (SKAT) at different minor allele count (MAC) thresholds of >5 and >0 to test the hypothesis that multiple variants within the same gene are associated with IA risk. Significant results were tested in a replication cohort of 425 patie

SUBMITTER: van 't Hof FNG 

PROVIDER: S-EPMC7080288 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature