Admixture Has Shaped Romani Genetic Diversity in Clinically Relevant Variants.

ABSTRACT: Genetic patterns of inter-population variation are a result of different demographic and adaptive histories, which gradually shape the frequency distribution of the variants. However, the study of clinically relevant mutations has a Eurocentric bias. The Romani, the largest transnational minority ethnic group in Europe, originated in South Asia and received extensive gene flow from West Eurasia. Most medical genetic studies have only explored founder mutations related to Mendelian disorders in this population. Here we analyze exome sequences and genome-wide array data of 89 healthy Spanish Roma individuals to study complex traits and disease. We apply a different framework and focus on variants with both increased and decreased allele frequencies, taking into account their local ancestry.

SUBMITTER: Font-Porterias N 

PROVIDER: S-EPMC8244592 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature