Genetic architecture and adaptations of Nunavik Inuit Article Swipe
Sirui Zhou
,
Pingxing Xie
,
Amélie Quoibion
,
Amirthagowri Ambalavanan
,
Alexandre Dionne‐Laporte
,
Dan Spiegelman
,
Cynthia V. Bourassa
,
Lan Xiong
,
Patrick A. Dion
,
Guy A. Rouleau
·
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1073/pnas.1810388116
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1073/pnas.1810388116
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 −8 ).
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1073/pnas.1810388116
- https://www.pnas.org/content/pnas/116/32/16012.full.pdf
- OA Status
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- Cited By
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- Related Works
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- OpenAlex ID
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All OpenAlex metadata
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https://openalex.org/W2964209702Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1073/pnas.1810388116Digital Object Identifier
- Title
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Genetic architecture and adaptations of Nunavik InuitWork title
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articleOpenAlex work type
- Language
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enPrimary language
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2019Year of publication
- Publication date
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2019-07-22Full publication date if available
- Authors
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Sirui Zhou, Pingxing Xie, Amélie Quoibion, Amirthagowri Ambalavanan, Alexandre Dionne‐Laporte, Dan Spiegelman, Cynthia V. Bourassa, Lan Xiong, Patrick A. Dion, Guy A. RouleauList of authors in order
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https://doi.org/10.1073/pnas.1810388116Publisher landing page
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https://www.pnas.org/content/pnas/116/32/16012.full.pdfDirect link to full text PDF
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YesWhether a free full text is available
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bronzeOpen access status per OpenAlex
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https://www.pnas.org/content/pnas/116/32/16012.full.pdfDirect OA link when available
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2025: 4, 2024: 3, 2023: 2, 2022: 5, 2021: 5Per-year citation counts (last 5 years)
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47Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.Nunavik | 55, 75, 88, 121, 139, 175, 210 |
| abstract_inverted_index.admixed | 153 |
| abstract_inverted_index.founder | 61 |
| abstract_inverted_index.genetic | 23, 41, 72 |
| abstract_inverted_index.genomic | 165 |
| abstract_inverted_index.people. | 67 |
| abstract_inverted_index.regions | 169 |
| abstract_inverted_index.related | 157 |
| abstract_inverted_index.remains | 33 |
| abstract_inverted_index.studies | 24 |
| abstract_inverted_index.through | 142 |
| abstract_inverted_index.variant | 215 |
| abstract_inverted_index.∼10.5 | 137 |
| abstract_inverted_index.American | 101 |
| abstract_inverted_index.Canadian | 1, 64 |
| abstract_inverted_index.European | 97 |
| abstract_inverted_index.However, | 19 |
| abstract_inverted_index.adhesion | 186 |
| abstract_inverted_index.analyses | 198 |
| abstract_inverted_index.cellular | 185 |
| abstract_inverted_index.distinct | 5, 79, 111 |
| abstract_inverted_index.evidence | 92 |
| abstract_inverted_index.inferred | 119 |
| abstract_inverted_index.isolated | 60 |
| abstract_inverted_index.limited, | 30 |
| abstract_inverted_index.majority | 86 |
| abstract_inverted_index.negative | 218 |
| abstract_inverted_index.pathways | 179 |
| abstract_inverted_index.peoples, | 102 |
| abstract_inverted_index.revealed | 70, 212 |
| abstract_inverted_index.aneurysms | 207 |
| abstract_inverted_index.effective | 126 |
| abstract_inverted_index.examining | 25 |
| abstract_inverted_index.generated | 47 |
| abstract_inverted_index.genotypes | 52 |
| abstract_inverted_index.involving | 180 |
| abstract_inverted_index.selection | 200, 219 |
| abstract_inverted_index.sequences | 49 |
| abstract_inverted_index.Subsequent | 197 |
| abstract_inverted_index.associated | 223 |
| abstract_inverted_index.background | 7, 73 |
| abstract_inverted_index.bottleneck | 144 |
| abstract_inverted_index.discovered | 36 |
| abstract_inverted_index.footprints | 201 |
| abstract_inverted_index.genomewide | 51 |
| abstract_inverted_index.highlights | 163 |
| abstract_inverted_index.indigenous | 66 |
| abstract_inverted_index.metabolism | 183 |
| abstract_inverted_index.particular | 11 |
| abstract_inverted_index.population | 6, 28, 62, 127, 156 |
| abstract_inverted_index.signatures | 166 |
| abstract_inverted_index.Greenlandic | 135 |
| abstract_inverted_index.adaptations | 172 |
| abstract_inverted_index.genetically | 110 |
| abstract_inverted_index.population. | 84 |
| abstract_inverted_index.present-day | 83, 99 |
| abstract_inverted_index.whole-exome | 48 |
| abstract_inverted_index.(rs77470587; | 226 |
| abstract_inverted_index.implications | 12 |
| abstract_inverted_index.individuals. | 18 |
| abstract_inverted_index.intracranial | 206 |
| abstract_inverted_index.particularly | 177 |
| abstract_inverted_index.approximately | 146 |
| abstract_inverted_index.significantly | 222 |
| abstract_inverted_index.Paleo-Eskimos. | 160 |
| abstract_inverted_index.characteristics. | 42 |
| abstract_inverted_index.population-specific | 164 |
| cited_by_percentile_year.max | 98 |
| cited_by_percentile_year.min | 90 |
| corresponding_author_ids | https://openalex.org/A5002628021 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 10 |
| corresponding_institution_ids | https://openalex.org/I1292859797, https://openalex.org/I5023651 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/14 |
| sustainable_development_goals[0].score | 0.8399999737739563 |
| sustainable_development_goals[0].display_name | Life below water |
| citation_normalized_percentile.value | 0.95006864 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |