On the prevalence of population groups in the human-genetics research literature

BACKGROUND. Population-specific human-genetics research has become commonplace but remains controversial, as its results can affect public and personal perceptions of the ethnic, national, and racial groups studied. Choice of populations for study has generally seemed a function of scientific, logistical, or economic factors. RESEARCH QUESTION. Has the identity of populations studied in the human-genetics research literature varied systematically, and, if it has, in what ways? METHODS. I searched the PubMed database for population-genetics reports, calculating for each a population score, a genetics score, and a mutation score. RESULTS. Some populations had been studied far more intensively than others. Many of the most frequently studied groups were ethnically defined and politically marginal in their home countries; some of these groups were involved in self-determination struggles. In the mutation-research literature, state-defined Muslim and Mediterranean populations prevailed. CONCLUSION. Study-population selection may in some cases be explained by, or may complicate, political predicament.