The GWAS Catalog

The GWAS Catalog provides an archival and search service for detailed and richly-annotated data from human genome-wide association studies (GWAS). These data can be searched, browsed, visualised and downloaded on the website (https://www.ebi.ac.uk/gwas/). The Catalog includes searchable lead associations per locus, and also makes full genome-wide datasets (known as “summary statistics”) available for download in a standardised format, which can be used for meta-analysis between studies, as well as other downstream applications such as polygenic score generation and Mendelian randomisation.

Exposures in the GWAS Catalog

The GWAS Catalog includes data from gene-by-environment (GxE) association studies that investigate interactions between genetics and environmental exposures such as diet, social inequalities, pollution and infectious agents. As of October 2024, the Catalog contains data from 880 GxE interaction studies, including >11,000 curated variant-trait associations and 148 full summary statistics datasets. Frequently-studied exposures include diet, smoking, alcohol consumption and psychosocial stress, among many others.

This year, we have been supported by  the Human Ecosystems theme at EMBL to make  GxE data more visible and accessible. We anticipate that the volume of GxE data will grow as the scale of exposome data expands.These improvements to the GWAS Catalog website will make it easier for researchers to re-use and integrate GxE data in their own work.

GxE study flag

Pages for individual studies include a flag to indicate if it is a GxE study (e.g. https://www.ebi.ac.uk/gwas/studies/GCST90428859).

This flag is also included in the downloadable spreadsheet of all studies in the Catalog: https://www.ebi.ac.uk/gwas/docs/file-downloads.

All studies table with GxE filter

In a new page (https://www.ebi.ac.uk/gwas/studies), users can view a filtered list showing all GxE interaction studies:

Future work will include outreach activities to increase the proportion of studies with full genome-wide summary statistics and improvements to trait representation. 

Find out more in our latest paper in Nucleic Acids Research: The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity, Cerezo et al. Nucleic Acids Research, gkae1070, https://doi.org/10.1093/nar/gkae1070