Pereira, Vania6; Tomas Mas, Carmen6; Sanchez, Juan J3; Syndercombe-Court, Denise4; Amorim, António5; Gusmão, Leonor5; Prata, Maria João5; Morling, Niels7
1 Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, Københavns Universitet2 RI ledelse, Department of Forensic Medicine, Faculty of Health and Medical Sciences, Københavns Universitet3 Instituto Nacional de Toxicología y Ciencias Forenses, Delegación de Canarias, La Cuesta, Tenerife, Spain.4 Academic Haematology, Blizard Institute, Barts and the London School of Medicine and Dentistry, London, UK.5 Instituto de Patologia e Imunologia Molecular da Universidade do Porto6 Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, Københavns Universitet7 RI ledelse, Department of Forensic Medicine, Faculty of Health and Medical Sciences, Københavns Universitet
further insights from the analysis of genetic diversity using autosomal and X-chromosomal markers
The peopling of Greenland has a complex history shaped by population migrations, isolation and genetic drift. The Greenlanders present a genetic heritage with components of European and Inuit groups; previous studies using uniparentally inherited markers in Greenlanders have reported evidence of a sex-biased, admixed genetic background. This work further explores the genetics of the Greenlanders by analysing autosomal and X-chromosomal data to obtain deeper insights into the factors that shaped the genetic diversity in Greenlanders. Fourteen Greenlandic subsamples from multiple geographical settlements were compared to assess the level of genetic substructure in the Greenlandic population. The results showed low levels of genetic diversity in all sets of the genetic markers studied, together with an increased number of X-chromosomal loci in linkage disequilibrium in relation to the Danish population. In the broader context of worldwide populations, Greenlanders are remarkably different from most populations, but they are genetically closer to some Inuit groups from Alaska. Admixture analyses identified an Inuit component in the Greenlandic population of approximately 80%. The sub-populations of Ammassalik and Nanortalik are the least diverse, presenting the lowest levels of European admixture. Isolation-by-distance analyses showed that only 16% of the genetic substructure of Greenlanders is most likely to be explained by geographic barriers. We suggest that genetic drift and a differentiated settlement history around the island explain most of the genetic substructure of the population in Greenland.European Journal of Human Genetics advance online publication, 7 May 2014; doi:10.1038/ejhg.2014.90.