Large new atrial fibrillation dataset now in the CVDKP

With today's publication of a new large-scale genetic association study (Roselli et al., Multi-ethnic genome-wide association study for atrial fibrillation, Nature Genetics (2018) doi:10.1038/s41588-018-0133-9), the corresponding dataset has been incorporated into the Cardiovascular Disease Knowledge Portal (CVDKP).

The new dataset, named 2018 AF HRC GWAS in the CVDKP, surveys more than 500,000 individuals, including over 65,000 with atrial fibrillation. With the majority of samples imputed to the Haplotype Reference Consortium (HRC) reference panel, the study analyzed associations for a total of more than 8 million common variants, nearly 3 million low-frequency variants, and almost 1 million rare variants. Individuals in the study represented a wide range of ancestries, including African American, East Asian, Hispanic, and Brazilian in addition to European.

With such a large sample size, the study had the power to detect many new associations. While about 30 loci associated with AF at genome-side significance had been identified prior to this work, the combined-ancestry meta-analysis described in this paper now reveals 67 novel genome-wide significant loci as well as confirming 27 previously known loci. Check out a press release from the Broad Institute that describes the study in more detail.

You can now explore the summary results from this study in the CVDKP, in several different ways. The dataset is described on our Data page, and summary results may be seen:

• On Gene pages (see an example) on the Common variants and High-impact variants tabs

• On Variant pages (see an example) in the Associations at a glance section and the Association statistics across traits table

• Via the Variant Finder search

• View a Manhattan plot of associations across the genome by selecting "Atrial fibrillation" in the View full genetic association results for a phenotype menu on the home page.


As you explore these data in the CVDKP, there are two things to keep in mind:

• For technical reasons, currently the minimum p-value that can be represented in the CVDKP is 1e-300. Until we can display lower p-values, please check Roselli et al. to see exact values for these extremely significant associations.

• Because the sample set for the previous "AFGen GWAS" dataset is largely overlapping with the sample set for this study, the AFGen GWAS set has been made a subset of 2018 AF HRC GWAS. It has been re-named "2017 AFGen GWAS" for clarity. Find full details about the sample overlap on the Data page.

Your feedback about this dataset or any other aspect of the CVDKP is welcome; please contact us!

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