Showing posts from December, 2018

Atrial fibrillation associations from whole-genome sequence data now available in the CVDKP

We are pleased to present in the Cardiovascular Disease Knowledge Portal the results of a new study, published today in the Journal of the American Medical Association, that used deep-coverage whole-genome sequencing to uncover genetic variants contributing to early-onset atrial fibrillation. As part of the NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium and the DiscovEHR study, first author Seung Hoan Choi and colleagues analyzed genetic associations with early-onset atrial fibrillation (AF) in 2,781 cases and 4,959 controls.

The study found multiple associations of common variants with AF, many of which supported previous reports. One particularly interesting association was found for a variant in an intron of the NAV2 gene. Since NAV2 is involved in nervous system development, this association may suggest a link between AF and development of the autonomic nervous system.

The researchers also took advantage of the whole-genome sequence data to assess the contribution of…