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Genetic architecture and adaptations of Nunavik Inuit.

Authors :
Zhou S
Xie P
Quoibion A
Ambalavanan A
Dionne-Laporte A
Spiegelman D
Bourassa CV
Xiong L
Dion PA
Rouleau GA
Source :
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2019 Aug 06; Vol. 116 (32), pp. 16012-16017. Date of Electronic Publication: 2019 Jul 22.
Publication Year :
2019

Abstract

The Canadian Inuit have a distinct population background that may entail particular implications for the health of its individuals. However, the number of genetic studies examining this Inuit population is limited, and much remains to be discovered in regard to its genetic characteristics. In this study, we generated whole-exome sequences and genomewide genotypes for 170 Nunavik Inuit, a small and isolated founder population of Canadian Arctic indigenous people. Our study revealed the genetic background of Nunavik Inuit to be distinct from any known present-day population. The majority of Nunavik Inuit show little evidence of gene flow from European or present-day Native American peoples, and Inuit living around Hudson Bay are genetically distinct from those around Ungava Bay. We also inferred that Nunavik Inuit have a small effective population size of 3,000 and likely split from Greenlandic Inuit ∼10.5 kya. Nunavik Inuit went through a bottleneck at approximately the same time and might have admixed with a population related to the Paleo-Eskimos. Our study highlights population-specific genomic signatures in coding regions that show adaptations unique to Nunavik Inuit, particularly in pathways involving fatty acid metabolism and cellular adhesion ( CPNE7 , ICAM5 , STAT2 , and RAF1 ). Subsequent analyses in selection footprints and the risk of intracranial aneurysms (IAs) in Nunavik Inuit revealed an exonic variant under weak negative selection to be significantly associated with IA (rs77470587; P = 4.6 × 10 <superscript>-8</superscript> ).<br />Competing Interests: The authors declare no conflict of interest.

Details

Language :
English
ISSN :
1091-6490
Volume :
116
Issue :
32
Database :
MEDLINE
Journal :
Proceedings of the National Academy of Sciences of the United States of America
Publication Type :
Academic Journal
Accession number :
31332017
Full Text :
https://doi.org/10.1073/pnas.1810388116