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- Fitipaldi, Hugo, et al.
(author)
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Ethnic, gender and other sociodemographic biases in genome-wide association studies for the most burdensome non-communicable diseases : 2005-2022
- 2023
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In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 32:3, s. 520-532
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Journal article (peer-reviewed)abstract
- INTRODUCTION: Since 2005, disease-related human genetic diversity has been intensively characterized using genome-wide association studies (GWAS). Understanding how and by whom this work was performed may yield valuable insights into the generalizability of GWAS discoveries to global populations and how high-impact genetics research can be equitably sustained in the future.MATERIALS AND METHODS: We mined the NHGRI-EBI GWAS Catalog (2005-2022) for the most burdensome non-communicable causes of death worldwide. We then compared: i) the geographic, ethnic, and socioeconomic characteristics of study populations, ii) the geographic and socioeconomic characteristics of the regions within which researchers were located, and iii) the extent to which male and female investigators undertook and led the research.RESULTS: The research institutions leading the work are often US-based (37%), while the origin of samples is more diverse, with the Nordic countries having contributed as much data to GWAS as the USA (~17% of data). The majority of first (60%), senior (75%) and all (66%) authors are male; although proportions vary by disease and leadership level, male coauthors are the ubiquitous majority. The vast majority (92%) of complex trait GWAS has been performed in European ancestry populations, with cohorts and scientists predominantly located in medium-to-high socioeconomically ranked countries; apart from East Asians (~5%), other ethnicities rarely feature in published GWAS.CONCLUSION: Most GWAS cohorts are of European ancestry residing outside the US, with a smaller yet meaningful proportion of East Asian ancestry. Papers describing GWAS research are predominantly authored by male scientists based in medium-to-high income countries.
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