How well-different ancestry groups have been represented in the first decade of polygenic scoring research (2008–2017, inclusive) is shown in Fig. 1a, which presents cumulative distributions of numbers of studies for specific ancestry groups across time. The field has been dominated by European ancestry studies. Across the 733 studies examined (see Methods for inclusion criteria and Supplementary Data 1 for a list of studies), 67% included exclusively European ancestry participants. There have also been 140 studies conducted in exclusively Asian populations (19%), most commonly in East Asian countries (e.g., China and Japan). Only 3.8% of the polygenic studies from the first decade of polygenic scoring research concerned populations of African, Latino/Hispanic, or Indigenous peoples combined. (Note that we retain population names from the original reports (e.g., Native American and Middle Eastern) in Fig. 1 in order to maintain consistency in terminology. Combined denotes that more than one ancestry group was included in the study (e.g., European ancestry and Asian ancestry participants)). These results are similar to those reported by Popejoy and Fullerton3, who noted that non-European ancestry representation in GWASs was almost exclusively in Asian populations, and East Asian populations in particular.
