Work

Monitoring diversity in genome-wide association studies requires measuring and reporting on immigration-related factors

Year: 2026

Type: article

Abstract: Genome-wide association studies (GWAS) have made remarkable progress to date in deciphering the genetic foundations of complex traits, yet persistent gaps remain in how sample heterogeneity is measured and reported. Current practices typically emphasize diversity by broad ancestry categories or stratification by country of recruitment, but these dimensions alone fail to capture the immigration-related factors that contribute to the genetic or environmental origins of heterogeneity. We argue that incorporating variables, such as country of origin, in descriptions and analyses provides essential context for interpreting genetic associations, particularly in increasingly multi-population and trans-national GWAS samples. We highlight how neglected these variables are in the literature using the GWAS Catalog. We provide suggestions for reporting on these data in future studies. By advocating for a more comprehensive view of diversity in GWAS, we aim to address the under-representation of immigrants in GWAS and thereby strengthen the validity and interpretability of future genomic studies.

Source: Frontiers in Genetics

DOI: 10.3389/fgene.2025.1725866

Authors: Yao Tu, Lindsay Fernandez-Rhodes

Institutions: Pennsylvania State University, University of North Carolina at Chapel Hill

Language: English

Topic: Genetic Associations and Epidemiology

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Reduced inequalities

Open Access status: gold

Estimated APC paid: $3,801