Genetic architecture in Greenland is shaped by demography, structure and selection.

ABSTRACT: Greenlandic Inuit and other indigenous populations are underrepresented in genetic research^1,2, leading to inequity in healthcare opportunities. To address this, we performed analyses of sequenced or imputed genomes of 5,996 Greenlanders with extensive phenotypes. We quantified their historical population bottleneck and how it has shaped their genetic architecture to have fewer, but more common, variable sites. Consequently, we find twice as many high-impact genome-wide associations to metabolic traits in Greenland compared with Europe. We infer that the high-impact variants arose after the population split from Native Americans and thus are Arctic-specific, and show that some of them are common due to not only genetic drift but also selection. We also find that European-derived

SUBMITTER: Stæger FF 

PROVIDER: S-EPMC11903302 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature